Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
myosin, heavy polypeptide 6, cardiac muscle, alpha
Synonyms:
alphaMHC,  alpha cardiac MHC,  alpha-MHC,  Myhc-a,  alpha myosin,  Myhca,  cardiomyopathy, hypertrophic 1,  A830009F23Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Myh6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Myh6 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Myh6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:613122
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e... OMIM:611880
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... OMIM:607482
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613252
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... OMIM:613172
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:613286
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... OMIM:606685
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... OMIM:604765
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... OMIM:613694
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... OMIM:605362
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Elevated left ventricul... OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... OMIM:613876
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... OMIM:615396
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure ORPHA:217622
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... OMIM:615248
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:302045
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... OMIM:615373
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... OMIM:614676
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... OMIM:613874
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... OMIM:613697
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... OMIM:611615
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle pseudohypert... OMIM:604286
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... OMIM:613255
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... OMIM:300257
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, Distal lower limb musc... OMIM:619903
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... OMIM:610476
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... ORPHA:34515
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... OMIM:613873
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... OMIM:160500
Cardiomyopathy, Familial Hypertrophic, 28
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... OMIM:619402
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Heart Block, Congenital
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... OMIM:234700
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... OMIM:615184
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... OMIM:613690
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Musc... OMIM:300718
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Myopathy, Limb-girdle mus... OMIM:612937
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Atrial Standstill 1
Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy... OMIM:108770
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... ORPHA:263494
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Left ven... ORPHA:206546
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo... OMIM:601419
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Myopathy, Frontalis ... OMIM:300580
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... OMIM:614022
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... OMIM:611705
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl... ORPHA:206559
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... OMIM:609200
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Macroglos... OMIM:616827
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... ORPHA:85451
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy OMIM:619492
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy OMIM:300376
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... ORPHA:171442
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Myopathy, Facial palsy OMIM:602541
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... OMIM:612124
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri... OMIM:615770
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... ORPHA:75565
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Limb-girdle muscle weakness, Right bundle branch block, Right axis deviation, Centrally nucleated... OMIM:255160
Myopathy, Distal, 4
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal... OMIM:614065
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... ORPHA:59135
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... ORPHA:603
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Cardiomyopathy, Dilated, 1Y
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... OMIM:611878
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... OMIM:619424
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Finger flexor weakness, Weakness of facial musculature, Intrinsic hand muscle atrophy, Foot dorsi... ORPHA:63273
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Ventricular tachycardia, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Congestive heart failure OMIM:605676
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... ORPHA:3092
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles OMIM:609500
Familial Dyskinesia And Facial Myokymia
Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia ORPHA:324588
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Myopathy, Distal, 7, Adult-Onset, X-Linked
Increased variability in muscle fiber diameter, Myofiber disarray, Fatty replacement of skeletal ... OMIM:301075
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Abnormal mitochondria in muscle tissue, Increased intramyocellular lipid dro... OMIM:252011
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Asymmetric septal hypertrophy, Conges... OMIM:600858
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Congenital Aortic Valve Stenosis
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... ORPHA:3093
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Hypertens... OMIM:540000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Nathalie Syndrome
Arrhythmia ORPHA:2663
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:612999
Congenital Myopathy 2A, Typical, Autosomal Dominant
Dilated cardiomyopathy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Nemaline ... OMIM:161800
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy OMIM:618815
Myofibrillar Myopathy 10
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... OMIM:619040
Hemochromatosis, Type 2A
Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... OMIM:609040
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Limb-girdle muscle weakness, Weakness of long finger extensor muscles, Wrist drop, Weakness of th... ORPHA:98912
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Congestive heart failure, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Hepatomegaly, Br... OMIM:619048
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Difficulty walking, Distal lower limb muscle weakness, Leg muscle st... ORPHA:320360
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Distal Nebulin Myopathy
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i... ORPHA:399103
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Abnormal EKG, Cardiomyopathy OMIM:309930
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... OMIM:614954
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... ORPHA:563
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Weakness of ... OMIM:615959
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... OMIM:300696
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Periarticular calcification, Pericardial effusion, Hepatic calcification... ORPHA:51608
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... ORPHA:1345
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... OMIM:608807
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, S... ORPHA:437572
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... OMIM:616201
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness, Arrhythmia OMIM:310095
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Distal Myotilinopathy
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal... ORPHA:98911
Myopathy, Distal, Tateyama Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:614321
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation, Atrial septal defect OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... OMIM:115195
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Dilated cardiomyopathy, Myopath... ORPHA:272
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragg... ORPHA:1349
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Right bundle branch block, T-wave inversion, Vent... ORPHA:263297
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Mitochondrial Dna Depletion Syndrome 11
Generalized amyotrophy, Dilated cardiomyopathy, Arrhythmia, Proximal amyotrophy, Ragged-red muscl... OMIM:615084
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia OMIM:606703
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Knee flexion contracture, Elbow flexion contracture, Achilles tendon contra... OMIM:310300
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:616198
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... OMIM:619167
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy OMIM:255100
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Propionic Acidemia
Cardiomyopathy, Propionyl-CoA carboxylase deficiency, Arrhythmia ORPHA:35
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Diaphragmatic eventration, Dilated cardiomyopathy, Noncompaction cardiomyop... OMIM:610198
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Arthrogryposis multip... OMIM:607598
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... ORPHA:98855
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... ORPHA:399086
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... ORPHA:399058
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture, Cardiomyopathy OMIM:609308
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon cont... ORPHA:98853
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormali... OMIM:615418
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy OMIM:600649
Hemochromatosis Type 2
Dilated cardiomyopathy ORPHA:79230
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Mitral regurgitation, Dilated cardiomyopathy OMIM:212112
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Type 1 muscle fi... OMIM:613507
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... ORPHA:75249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Long Qt Syndrome 16
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... OMIM:618782
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis, Ankle flexion contracture OMIM:618120
Muscular Dystrophy, Duchenne Type
Knee flexion contracture, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Abnor... OMIM:310200
Leber Hereditary Optic Neuropathy
Ataxia, Retinal telangiectasia, Myopathy, Arrhythmia, Ventricular preexcitation ORPHA:104
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric... ORPHA:444013
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Attrv30M Amyloidosis
Cardiomegaly, Arrhythmia, Atrioventricular block, Cardiomyopathy ORPHA:85447
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Myotonia Congenita, Autosomal Dominant
Myotonia, Handgrip myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... OMIM:160800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol... OMIM:619566
Congenital Gerbode Defect
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... ORPHA:99095
Familial Atrial Myxoma
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my... ORPHA:615
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Skeletal myopathy, Left ventricular hypertrophy, Noncompaction cardiomy... ORPHA:3208
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... ORPHA:439
Desminopathy
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... ORPHA:98909
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... ORPHA:422
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Generalized amyotrophy, Dilated cardiomyopathy, Weakness of facial musculature, Myopathy, Arrhyth... ORPHA:352447
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly, Endocardial fibrosis OMIM:607685
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Calf muscle hypertrophy, Achilles tendon contracture, Congenital muscular dystrophy, Macroglossia... OMIM:607155
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:248360
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Imperforate tricuspid valve, Right bundle branch block, Abnormal cardiac se... ORPHA:1880
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Hepatic necrosis, Dilated cardiomyopathy OMIM:231530
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... OMIM:614980
Dk1-Cdg
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hy... ORPHA:91131
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy OMIM:606842
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... OMIM:614473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Left ventricular hypertro... OMIM:613156
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... ORPHA:99106
Triokinase And Fmn Cyclase Deficiency Syndrome
Reduced systolic function, Dilated cardiomyopathy OMIM:618805
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... ORPHA:206549
Familial Cutaneous Collagenoma
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy ORPHA:53296
Aortic Arch Interruption
Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary window, Truncus... ORPHA:2299
Dystonia 23
Torticollis, Gait disturbance, Arrhythmia OMIM:614860
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy,... OMIM:609452
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Generalized amyotrophy, Muscular dystrophy, Elbow flexion contracture, Gait disturbance, Loss of ... OMIM:616516
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy OMIM:145350
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Left ventricular hypertrophy OMIM:614654
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom... OMIM:615352
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Ventricular septal defect, Hypertension, Arrhythmia OMIM:617021
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Hypertension OMIM:616733
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the face, Myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Percussion m... ORPHA:684
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Abnormal muscle glycogen content, Dilated cardiomyopathy, Congestive heart f... ORPHA:367
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... ORPHA:353
Shwachman-Diamond Syndrome 1
Myocardial necrosis OMIM:260400
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, First degree a... OMIM:617336
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... OMIM:224700
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... ORPHA:860
Maternally-Inherited Diabetes And Deafness
Hypertension, Congestive heart failure, Ataxia, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:225
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Ischemic stroke, Dilated cardiomyopathy, Cerebral hemorrhage ORPHA:280679
Polymyositis
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Abnormal muscle fiber mor... ORPHA:732
Noonan Syndrome 8
Ventricular septal defect, Left ventricular hypertrophy, Atrial septal defect, Hypertrophic cardi... OMIM:615355
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... ORPHA:1686
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Ventricular tachycardia, Syncope, Dilated cardiomyopathy OMIM:615821
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... OMIM:620135
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Ataxia, Arrhythmia ORPHA:3222
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, EMG: myopathic abno... OMIM:608358
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Cor... ORPHA:1330
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Distal Myopathy, Tateyama Type
Increased variability in muscle fiber diameter, Percussion-induced rapid rolling muscle contracti... ORPHA:488650
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... ORPHA:34217
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Abnormal left ventricle morphology, Dilated cardiomyopathy, Cerebral hemorrhage OMIM:300845
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... OMIM:615616
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Patent foramen ovale, Right ventricular outlet tract obstruct... ORPHA:99094
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Dilated cardiomyopathy, Congestive heart failure, EM... ORPHA:99901
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... OMIM:616812
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Left ventricular hypertrophy, C... ORPHA:90065
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr... ORPHA:216694
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Systolic heart murmur, Pulmonary insufficiency, Left ventricular dia... OMIM:620067
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... ORPHA:1329
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Left ventric... ORPHA:169186
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:611126
Refsum Disease, Classic
Congestive heart failure, Ataxia, Arrhythmia, Cardiomegaly, Limb muscle weakness, Decreased phyta... OMIM:266500
Tangier Disease
Left ventricular hypertrophy, Facial diplegia, Myocardial infarction, Hepatomegaly, Distal amyotr... OMIM:205400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia ORPHA:99944
Atrial Standstill 2
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... OMIM:615745
Barth Syndrome
Endocardial fibroelastosis, Skeletal myopathy, Dilated cardiomyopathy, Increased left ventricular... OMIM:302060
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula... OMIM:615474
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... ORPHA:555874
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... OMIM:616501
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonary insufficiency, Hepatomegaly, Pulmonic stenosis, Tricuspid r... OMIM:619433
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Syncope, Angina pectoris, Right ventricular failure, Right ventr... OMIM:265400
Amoebiasis Due To Free-Living Amoebae
Arrhythmia, Myocardial necrosis, Facial palsy ORPHA:68
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hepatic failure, Elevated hepatic transaminase, Hypertrophic cardiomyopathy... ORPHA:156
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Myopathy ORPHA:91130
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon... ORPHA:398124
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Macroglos... ORPHA:308552
Mcleod Syndrome
Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy OMIM:300842
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
Arrhythmogenic right ventricular dysplasia, familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Dilatation ... OMIM:600996
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Polyvalvular Heart Disease Syndrome
Mitral valve prolapse, Abnormal heart valve morphology, Arrhythmia, Aortic valve stenosis, Pulmon... ORPHA:228410
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... OMIM:253700
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT inte... ORPHA:251274
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Gait disturbance, Congestive heart failure, Myopathy, Skeletal muscle atroph... ORPHA:157973
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy OMIM:618236
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Intermediate Nemaline Myopathy
Cardiomyopathy, Flexion contracture, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodi... ORPHA:171433
Fabry Disease
Transient ischemic attack, Left ventricular hypertrophy, Angina pectoris, Ventricular septal hype... OMIM:301500
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, Unroofed co... ORPHA:99104
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Myopathy, Hepatomegaly, Cardiomyopathy OMIM:610717
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... OMIM:601005
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... ORPHA:99103
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... OMIM:619343
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616276
Myotonia Congenita, Autosomal Recessive
Myotonia, Myotonia with warm-up phenomenon, Percussion myotonia, EMG: myotonic runs OMIM:255700
Cln3 Disease
T-wave inversion, Bradycardia, Left ventricular hypertrophy ORPHA:228346
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Gait disturbance, Ataxia, Hypertrophic cardiomyopathy, Dysmetria, Skeletal mu... ORPHA:96
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Symmetrical Thalamic Calcifications
Ataxia, Arrhythmia ORPHA:1314
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... ORPHA:26793
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Cardiomyopathy OMIM:615119
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Left ventricular h... ORPHA:746
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Cardiomyopathy OMIM:613752
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Ventricular hypertrophy, Rhabdom... ORPHA:228305
Hemochromatosis, Type 2B
Splenomegaly, Congestive heart failure, Hepatomegaly, Cardiomyopathy OMIM:613313
Congenital Fibrinogen Deficiency
Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage ORPHA:335
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Ataxia, Situs inversus totalis, Arrhythmia, Card... OMIM:249270
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Hepatomegaly, Joint contracture, Splenomegaly, Cardiomyopathy OMIM:608540
Collagenoma, Familial Cutaneous
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... OMIM:115250
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Patent foramen ovale, Right ventricular hypertrophy, Right atria... OMIM:616028
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... OMIM:608810
Glycogen Storage Disease Iii
Ventricular hypertrophy, Myopathy, Hepatomegaly, Distal amyotrophy, Cardiomyopathy OMIM:232400
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Dilated cardiomyopathy, Congestive heart failure, Myopathy, Arrhythmia OMIM:609015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital musc... OMIM:613155
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly OMIM:208000
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Duchenne Muscular Dystrophy
Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy, Calf muscle hypertrophy ORPHA:98896
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:614302
Gm1-Gangliosidosis, Type I
Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal heart valve morphology, Dilated c... OMIM:230500
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Dilated cardiomyopathy ORPHA:70595
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... ORPHA:119
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... ORPHA:98863
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... ORPHA:49827
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... ORPHA:34516
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Splenomegaly, Hepatomegaly OMIM:269920
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Ven... OMIM:300952
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi... OMIM:212140
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT interval, Pro... ORPHA:71212
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Cardiomyopathy OMIM:619003
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Lower limb muscle weakness, Abnormal EKG, Generalized amyotrophy, Lower limb hype... ORPHA:1177
Thomsen And Becker Disease
Myotonia ORPHA:614
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega... OMIM:619051
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cardiomegaly, Elevated hepatic transaminase, Ataxia, Myopathy, Skeletal mu... ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, ... OMIM:618234
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618228
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Elevated hepatic transamina... OMIM:212138
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, ... ORPHA:555877
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Rhabdomyolysis, Ventricular septal defect,... OMIM:614921
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Dilated cardiomyopathy, Con... ORPHA:2326
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Left ventricular hypertrophy ORPHA:93952
Immune-Mediated Necrotizing Myopathy
Raynaud phenomenon, Congestive heart failure, EMG: myopathic abnormalities, Myositis, Muscle fibe... ORPHA:206569
Glycogen Storage Disease Due To Aldolase A Deficiency
Reduced circulating aldolase concentration, Decreased muscle mass, Skeletal myopathy, Muscle fibe... ORPHA:57
Paramyotonia Congenita Of Von Eulenburg
Paradoxical myotonia, Handgrip myotonia, Percussion myotonia OMIM:168300
Nephronophthisis 16
Enlarged kidney, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, Pulm... OMIM:615382
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, EMG: myopathic abnormalities, Ragged-red muscle fibers, Bradycardia, Arrhythmia... OMIM:609286
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... ORPHA:542306
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Camptodactyly of toe, Hypertrophic cardio... OMIM:300280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Calf muscle hypertrophy, Congenital muscular dystrophy, Dilated cardiomyopat... OMIM:253800
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Macr... OMIM:261740
Myopathy, Myofibrillar, 6
Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Generalized amyotrop... OMIM:612954
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Ele... ORPHA:330001
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... ORPHA:37553
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra... ORPHA:324410
Cantu Syndrome
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve OMIM:239850
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva... OMIM:255120
Zebra Body Myopathy
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... ORPHA:97240
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... OMIM:618619
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Rheumatic Fever
Endocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal mitral valve morphol... ORPHA:3099
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia OMIM:614702
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Mitral valve prolapse, Left ventricular hypertrophy, Atrial septal defec... ORPHA:230851
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Calf muscle ... ORPHA:268
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Generalized amyotrophy, Dilated cardiomyopathy, Prolonged QT interval,... ORPHA:66634
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Skeletal myopathy, Abnormality of the calf musculature, Abnormality of ... ORPHA:565612
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tricuspid re... OMIM:618652
Aorta Coarctation
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... ORPHA:1457
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Hemochromatosis, Type 1
Telangiectasia, Congestive heart failure, Hepatomegaly, Arrhythmia, Cardiomegaly, Splenomegaly, C... OMIM:235200
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Hurler-Scheie Syndrome
Splenomegaly, Abnormal heart valve morphology, Hepatomegaly, Cardiomyopathy ORPHA:93476
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Hec Syndrome
Endocardial fibroelastosis, Cardiomyopathy, Arrhythmia ORPHA:2119
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener... OMIM:607459
Oculopharyngodistal Myopathy 1
Increased variability in muscle fiber diameter, Paroxysmal atrial fibrillation, Autophagic vacuol... OMIM:164310
Hemochromatosis, Type 4
Arrhythmia, Hepatomegaly, Cardiomyopathy OMIM:606069
Atypical Juvenile Parkinsonism
Gait ataxia, Shuffling gait, Akinesia, Inability to walk, Short stepped shuffling gait, Hypomimic... ORPHA:391411
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Dilated cardiomyopathy OMIM:610768
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Cardiomyopathy ORPHA:26792
Mucopolysaccharidosis, Type X
Aortic regurgitation, Aortic valve stenosis, Thickened aortic valve cusp, Left ventricular hypert... OMIM:619698
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Sengers Syndrome
Hypertrophic cardiomyopathy, Myopathy OMIM:212350
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy ORPHA:262
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatomegaly, Cardiomegaly OMIM:253250
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Flexion contracture, Abnormal aortic valve morphology, Congestive heart ... ORPHA:1194
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... OMIM:619334
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Flexion contracture, Myopathy OMIM:618237
Noonan Syndrome 10
Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left ventricular hypertrophy, ... OMIM:616564
Mitochondrial Complex I Deficiency, Nuclear Type 7