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Gene: Tnnt2 MGI:104597

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
troponin T2, cardiac
Synonyms:
cTnT,  cardiac TnT,  Tnt

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Tnnt2 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 Tnnt2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... OMIM:115195
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... ORPHA:75249

The table below shows human diseases predicted to be associated to Tnnt2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... OMIM:607482
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... OMIM:612124
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... OMIM:606685
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, 1Dd
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... OMIM:613172
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e... OMIM:611880
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:613286
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... OMIM:605362
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613252
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... OMIM:601493
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... OMIM:615184
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... OMIM:615373
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... OMIM:604765
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure ORPHA:217622
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... OMIM:613694
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Cardiomyopathy, Familial Hypertrophic, 27
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... OMIM:618052
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... OMIM:615396
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy, Congestive heart failure OMIM:605676
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... OMIM:613873
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... OMIM:610476
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... OMIM:609040
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... OMIM:613697
Long Qt Syndrome 16
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... OMIM:618782
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:302045
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Right ventricular dilatation, Left ... OMIM:615616
Cardiomyopathy, Dilated, 1Y
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... OMIM:611878
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611615
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Bicuspid aortic valve, Ventricular escape rhythm, Mitral regurgitation, Left a... OMIM:616201
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... ORPHA:34217
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... ORPHA:563
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Cardiomyocyte hy... OMIM:613507
Atrial Septal Defect 6
Atrial septal defect, Bradycardia, Atrial fibrillation OMIM:613087
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Right bundle branch block, T-wave inversion, Ventricular septal hypertro... ORPHA:263297
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... OMIM:600858
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... OMIM:614954
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri... OMIM:615770
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Atrial Standstill 1
Endocardial fibroelastosis, Atrial standstill, Premature atrial contractions, Atrial cardiomyopat... OMIM:108770
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Arrhythmogenic right ventricular dysplasia, familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Dilatation ... OMIM:600996
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy, EEG abnormality OMIM:618815
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 28
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... OMIM:619402
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... OMIM:613255
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy OMIM:600649
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o... OMIM:601005
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Interstitial cardiac fibrosis, Reduced left ventricular ejection fraction, ... OMIM:181350
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616276
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... OMIM:611705
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Ventricular tachycardia, Syncope, Dilated cardiomyopathy OMIM:615821
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Cardiac arrest, Premature ventricular contraction, Ventricu... OMIM:212138
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... ORPHA:216694
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... OMIM:613690
Ethanolaminosis
Cardiomegaly OMIM:227150
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Myofibrillar Myopathy 10
Increased QRS voltage, Left ventricular hypertrophy, Prolonged QTc interval OMIM:619040
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Hemochromatosis, Type 2A
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:602390
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Patent foramen ovale, Bradycardia, Sick sinus syndrome OMIM:617182
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... OMIM:115210
Atrial Standstill 2
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... OMIM:615745
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopa... OMIM:610198
Dk1-Cdg
Interstitial cardiac fibrosis, Hypsarrhythmia, Multifocal epileptiform discharges, Dilated cardio... ORPHA:91131
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Dilated cardiomyopathy, Congestive heart failure, Cardiomyopathy OMIM:608099
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Reduced systolic function, Dilated cardiomyopathy OMIM:616827
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy ORPHA:206546
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy OMIM:619903
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
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
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy OMIM:619492
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Left ventricular systolic dysfunction, Dilated cardiomyopathy ORPHA:206559
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Myocardial infarction, Abnormality of venous physiology, Abnormal c... ORPHA:90064
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Bradycardia, Congestive heart failure OMIM:619048
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy OMIM:604286
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... OMIM:613876
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... OMIM:614702
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... OMIM:255160
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon... ORPHA:398124
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Cardiogenic shock, Dilated cardiomyopathy, Myocard... OMIM:619424
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... ORPHA:2414
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... ORPHA:26793
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... ORPHA:1041
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy OMIM:300580
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy OMIM:300718
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy OMIM:612937
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Variegate Porphyria
Tachycardia OMIM:176200
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... ORPHA:85451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale, Hypsarrhythmia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interva... ORPHA:542306
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Ven... OMIM:300952
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... ORPHA:1686
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... ORPHA:37553
Dpm3-Cdg
Dilated cardiomyopathy ORPHA:263494
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm... ORPHA:1055
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... OMIM:613874
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... OMIM:614676
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT inte... ORPHA:251274
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy ORPHA:34515
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... ORPHA:90065
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy OMIM:611556
Nathalie Syndrome
Abnormal EKG OMIM:255990
Myopathy, Distal, 1
Left atrial enlargement, Dilated cardiomyopathy OMIM:160500
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Atrioventricular block, Arrhythmia ORPHA:85447
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy OMIM:602541
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:616198
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Congestive heart failure, Reduced left ventricular eje... OMIM:614096
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Cardiomyopathy ORPHA:320360
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy ORPHA:1349
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, Pericardial effusion, EEG with burst suppression, ST segment depre... OMIM:261740
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Ventricular tachycardia, Arrhythmia ORPHA:159
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia ORPHA:276556
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... ORPHA:439
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... OMIM:614473
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Wolff-Parkins... ORPHA:137675
Congenitally Uncorrected Transposition Of The Great Arteries
Dextrotransposition of the great arteries, Left ventricular outflow tract obstruction, Ventricula... ORPHA:860
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Cardiomyopathy OMIM:610100
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... ORPHA:1345
Congenital Aortic Valve Stenosis
Sudden cardiac death, Abnormal T-wave, Aortic valve atresia, Increased QRS voltage, Endocarditis,... ORPHA:3093
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Heart murmur, Congestive heart failure, Cardiac my... ORPHA:615
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia OMIM:615084
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... ORPHA:555874
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular tachycardia, Prolong... OMIM:616878
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia ORPHA:276575
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... OMIM:115195
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:252011
Triokinase And Fmn Cyclase Deficiency Syndrome
Reduced systolic function, Dilated cardiomyopathy OMIM:618805
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia ORPHA:276580
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... ORPHA:1329
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, EEG abnormality ORPHA:272
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, Premature ventricular contraction, Ventricular tachycardia, Cardiom... ORPHA:423
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Decreased nerve conduction velocity ORPHA:868
Polymyositis
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Congestive heart failure,... ORPHA:732
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Myopathy, Centronuclear, 5
Mitral regurgitation, Dilated cardiomyopathy OMIM:615959
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Mitral regurgitation, Dilated cardiomyopathy OMIM:212112
Hemochromatosis Type 2
Dilated cardiomyopathy ORPHA:79230
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:310200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Arrhythmia OMIM:609286
Congenital Myopathy 2A, Typical, Autosomal Dominant
Dilated cardiomyopathy OMIM:161800
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval, Pericardial effusion ORPHA:231111
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy ORPHA:171442
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... OMIM:620135
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... ORPHA:422
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy OMIM:145350
Eisenmenger Syndrome
Atrioventricular canal defect, Aortopulmonary window, Ventricular arrhythmia, Supraventricular ar... ORPHA:97214
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:248360
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... OMIM:614980
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Ischemic stroke, Cerebral hemorrhage, Dilated cardiomyopathy ORPHA:280679
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... ORPHA:99103
Barth Syndrome
Endocardial fibroelastosis, Congestive heart failure, Increased left ventricular end-diastolic vo... OMIM:302060
Congenital Disorder Of Glycosylation, Type Im
Hypsarrhythmia, Bradycardia, Dilated cardiomyopathy OMIM:610768
Cln3 Disease
T-wave inversion, Left ventricular hypertrophy, Bradycardia ORPHA:228346
Cantu Syndrome
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... OMIM:239850
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Illum Syndrome
Bradycardia OMIM:208155
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... OMIM:618775
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension, Atrial septal defect, Ventricular septal defect OMIM:613870
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy OMIM:618120
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
EEG with burst suppression, Bradycardia OMIM:614498
Acquired Methemoglobinemia
Syncope, Palpitations, Tachycardia, Arrhythmia ORPHA:464453
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Edema, Ascites, Abnormal cardiac septum morphology OMIM:608776
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... OMIM:619167
Craniofaciofrontodigital Syndrome
Patent ductus arteriosus, Polyhydramnios, Pulmonary arterial hypertension, Persistent fetal circu... ORPHA:363705
Congenital Myopathy 4A, Autosomal Dominant
Dilated cardiomyopathy OMIM:255310
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy OMIM:617713
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:611126
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... ORPHA:75565
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171420
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyo... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyo... ORPHA:98853
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Dilated cardiomyopathy, Muscular ventricular septal defect ORPHA:66634
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Palpitations, Tachycardia ORPHA:324575
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Ventricular escape rhy... ORPHA:98855
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... OMIM:224700
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy ORPHA:59135
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... OMIM:619313
Familial Cutaneous Collagenoma
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy ORPHA:53296
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... ORPHA:49827
Tetanus
Tachycardia, Bradycardia, Hypertension ORPHA:3299
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Abnormal left ventricle morphology, Dilated cardiomyopathy, Cerebral hemorrhage OMIM:300845
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Cardiomyopathy OMIM:606842
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Congestive heart failure, Dilated cardiomyopathy, Hy... ORPHA:99901
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Snakebite Envenomation
Hypotension, Cerebral ischemia, Cardiogenic shock, Intracranial hemorrhage, Epistaxis, Myocardial... ORPHA:449285
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Prolonged QT interval, Dilated cardiomyopathy ORPHA:71212
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Limb hypertonia, Short stature, Pericardial effusion, Atrial septal defect, Multi... OMIM:620070
Congenital Enterovirus Infection
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Pleural effusion, Fetal ascit... ORPHA:292
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:609015
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Abnormal EKG ORPHA:1177
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Prolonged QT interval, Palpitations, Bidirectional ventricular ectopy,... OMIM:170390
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Dilated cardiomyopathy OMIM:607155
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal heart morphology, Interictal EEG abnormality, Tachycardia ORPHA:79264
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... ORPHA:75249
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly OMIM:208000
Paragangliomas 3
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:605373
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Congestive heart failure, Hepatomegaly OMIM:269920
Gitelman Syndrome
Hypotension, Prolonged QT interval, Ventricular tachycardia, Palpitations OMIM:263800
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Necrotizing Enterocolitis
Hypotension, Abnormal heart morphology, Bradycardia, Shock ORPHA:391673
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Prolonged QT interval, Hepatomegaly, Bradycardia, Tachycardia, Atrial fibrillation OMIM:613327
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Pericardial effusion, Pleural effusion, Ascites, Angioedema, Abnormal he... ORPHA:36412
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Aorta Coarctation
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... ORPHA:1457
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... ORPHA:99106
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Dilated cardiomyopathy, Con... ORPHA:2326
Mcleod Syndrome
Dilated cardiomyopathy, Atrial fibrillation, Cardiomyopathy OMIM:300842
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly, Congestive heart failure, Arrhythmia OMIM:266500
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Congestive heart... ORPHA:324410
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal cardiomyocyte morphology, Dilated cardiomyopathy, Portal hypertension, Congestive heart ... ORPHA:367
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Hemochromatosis, Type 1
Telangiectasia, Congestive heart failure, Hepatomegaly, Arrhythmia, Cardiomegaly, Splenomegaly, C... OMIM:235200
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Chromosome 1P36 Deletion Syndrome, Proximal
Patent foramen ovale, Ventricular septal defect, Coronary artery fistula, Wolff-Parkinson-White s... OMIM:619343
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy, Tachycardia, Internal hemorrhage ORPHA:335
Gm1-Gangliosidosis, Type I
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Congestive heart failure, Dilated c... OMIM:230500
Cocaine Intoxication
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... ORPHA:90068
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Hypsarrhythmia, Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:618321
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega... OMIM:619051
Aicardi-Goutieres Syndrome 9
Pericardial effusion, Left ventricular hypertrophy, Hypertension, Pericarditis, Edema, Increased ... OMIM:619487
Combined Oxidative Phosphorylation Defect Type 39
Hypsarrhythmia, Decreased nerve conduction velocity, Bradycardia, EEG abnormality ORPHA:565624
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy OMIM:620089
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitation, Hepa... OMIM:212140
D-Glyceric Aciduria
Hypsarrhythmia, Bradycardia OMIM:220120
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Bradycardia, Cerebral hemorrhage OMIM:617397
Ethylene Glycol Poisoning
Hypotension, Hypertension, Congestive heart failure, Shock, Prolonged QT interval, Tachycardia, A... ORPHA:31826
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Pulmo... ORPHA:3426
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Ventricular septal defect, Dilated cardiom... OMIM:614921
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Glossopharyngeal Neuralgia
Jaw claudication, Syncope, Bradycardia ORPHA:221098
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia OMIM:619737
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tricuspid re... OMIM:618652
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Prolonged QT interval, Abnormal EKG ORPHA:480864
Collagenoma, Familial Cutaneous
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... OMIM:115250
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Imperforate tricuspid valve, Right bundle branch block, Cerebral ischemia, ... ORPHA:1880
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatomegaly, Cardiomegaly OMIM:253250
Gaucher Disease Type 1
Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Delayed puberty, Growth delay... ORPHA:77259
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Hydroxykynureninuria
Hypotension, Tachycardia ORPHA:79155
Primary Intestinal Lymphangiectasia
Pericardial effusion, Pleural effusion, Edema, Growth delay, Ascites, Generalized edema ORPHA:90362
Paragangliomas 1
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:168000
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio... ORPHA:199241
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Heart block, Capillary leak, Arrhythmia,... ORPHA:542323
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Bacterial endocarditis, Heart block ORPHA:1964
Leigh Syndrome With Cardiomyopathy
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitati... ORPHA:70474
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Ogden Syndrome
Pulmonary arterial hypertension, Torsade de pointes, Supraventricular tachycardia, Patent foramen... OMIM:300855
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema ORPHA:79126
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Joint contracture of the hand, Lymphedema, Pericardial effusion, Mild ... OMIM:235510
Myotonic Dystrophy 2
Premature ventricular contraction, Right bundle branch block, Palpitations, Tachycardia OMIM:602668
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Gitelman Syndrome
Abnormal T-wave, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-to-normal blood ... ORPHA:358
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
16P12.1P12.3 Triplication Syndrome
Abnormal heart morphology, Abnormal tricuspid valve morphology, Tachycardia, Atrial septal defect ORPHA:485405
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... ORPHA:980
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171300
Thyrotoxic Periodic Paralysis
Impaired myocardial contractility, Shortened PR interval, Prolonged QT interval, Palpitations, Se... ORPHA:79102
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Raynaud phenomenon, Pleural effusion, Edema, Myositis, Ascites ORPHA:93552
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Ventricular septal defect, Hypertension, Bradycardia, Tachycardia OMIM:614653
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Cardiomyopathy OMIM:249270
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly OMIM:252920
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Camptodactyly, Pleural effusion, Edema, Arthrogryposis multiplex congenita OMIM:617822
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem... ORPHA:99104
Hec Syndrome
Endocardial fibroelastosis, Cardiomyopathy, Arrhythmia ORPHA:2119
Melas
Pulmonary arterial hypertension, Concentric hypertrophic cardiomyopathy, EEG abnormality, Wolff-P... ORPHA:550
Arterial Tortuosity Syndrome
Cardiac arrest, Congestive heart failure, Hypertension, Dilated cardiomyopathy, Myocardial infarc... ORPHA:3342
Neuraminidase Deficiency
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:256550
Tularemia
Tachycardia ORPHA:3392
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function ORPHA:229
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, EEG abnormality, Cardiac arrest, Hypsarrhythmia, Dilated cardiomyopathy ORPHA:20
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Gaucher Disease Type 3
Pulmonary arterial hypertension, Hydrops fetalis, Pericardial effusion, Abnormal heart valve morp... ORPHA:77261
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Hypertrop... ORPHA:308552
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Pulmonary arterial hypertension, Prolonged QT interval OMIM:620029
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, He... OMIM:201475
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling ORPHA:92
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hematochezia, Congestive heart failure, Cardiomyopathy OMIM:615895
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Cardiomegaly... ORPHA:268
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Relapsing Fever
Hypotension, Epistaxis, Tachycardia ORPHA:91547
Alstrom Syndrome
Hypertension, Congestive heart failure, Dilated cardiomyopathy OMIM:203800
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites, Hematochezia OMIM:618183
Idiopathic Pulmonary Hemosiderosis
Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Poems Syndrome
Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion, Edema, Ascites ORPHA:2905
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Cardiomegaly, Dilated cardiomyopathy, Arrhythmia OMIM:608836
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Pericardial effusion ORPHA:73224
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy OMIM:105210
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy ORPHA:70595
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia ORPHA:42
Q Fever
Endocarditis, Pericardial effusion, Pericarditis, Pleural effusion, Abnormal left ventricular fun... ORPHA:781
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Pericardial effusion, Nonimmune hydrops fetalis, Pericarditis, Edema, Cardio... OMIM:212065
Encephalitis Lethargica