Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sodium channel, voltage-gated, type V, alpha
Synonyms:
Nav1.5c,  Nav1.5,  mH1,  SkM2

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 Scn5a 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 Scn5a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... OMIM:113900
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Atrial Standstill
Atrial standstill, Left ventricular noncompaction, Ventricular tachycardia, Arrhythmia, Congestiv... ORPHA:1344
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Left ventricular hypertr... OMIM:614022
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Sudden Infant Death Syndrome
OMIM:272120

The table below shows human diseases predicted to be associated to Scn5a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Endocardial fibroelasto... OMIM:108770
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... OMIM:113900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 28
Reduced ejection fraction, Apical hypertrophic cardiomyopathy, Sudden cardiac death, Systolic ant... OMIM:619402
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Impaired myocardial contractility, Endocardial fibroelastosis OMIM:607482
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Neoplasm of the heart, Junctional ectopic tachycardia ORPHA:3283
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular septal hypertrophy, Ventricular fibrillation, Ventricular tachycardia, T-wave inversi... OMIM:608758
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Nathalie Syndrome
Abnormal EKG OMIM:255990
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Abnormal left ventricular function, Congestive hear... OMIM:605362
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Biventricular hypertrophy, Hypertrophic... OMIM:613243
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Atrial Standstill
Atrial standstill, Left ventricular noncompaction, Ventricular tachycardia, Arrhythmia, Congestiv... ORPHA:1344
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Cardiomyopathy, Familial Hypertrophic, 7
Atrial fibrillation, Cardiomyopathy, Ventricular hypertrophy OMIM:613690
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Cardiomyopathy, Dilated, 1Kk
Ventricular septal hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic ca... OMIM:615248
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:604765
Cardiomyopathy, Dilated, 1U
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:606685
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Atrial fibrillation, Congestive heart failure OMIM:614672
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction, Arrhy... OMIM:615373
Nathalie Syndrome
Arrhythmia ORPHA:2663
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced ejection fraction OMIM:618189
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyop... OMIM:115197
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block OMIM:616812
Atrial Septal Defect 6
Bradycardia, Atrial septal defect, Atrial fibrillation OMIM:613087
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, ST segment elevation, Ventricular fibrillation, Foot dorsiflexor ... ORPHA:263297
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Left ventricular hypertr... OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Atrial fibrillation, Left atrial enlargement, Congestive heart failure OMIM:617047
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Atrial arrhythmia, Atrioventricular block OMIM:310300
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm ORPHA:542306
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Aortic valve stenosis, Left atrial enlargement OMIM:615377
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Desminopathy
Congestive heart failure, Sudden cardiac death, Atrioventricular block, Concentric hypertrophic c... ORPHA:98909
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Ebstein Anomaly
Ventricular preexcitation, Atrial standstill, Atrial septal defect, Sudden cardiac death, Right b... OMIM:224700
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter OMIM:615770
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Endocardial Fibroelastosis
Endocardial fibroelastosis, Cardiomyopathy, Congestive heart failure OMIM:226000
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Naxos Disease
Paroxysmal ventricular tachycardia, Arrhythmia, Congestive heart failure, Sudden cardiac death, C... ORPHA:34217
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular... OMIM:212138
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Right ventricular cardiomyopathy, Dilatation of the ventricular cavity, Effort-induced polymorphi... OMIM:600996
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Dilatation of the ventr... OMIM:615745
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Variegate Porphyria
Tachycardia OMIM:176200
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Arrhythmia, Congestive heart failure, Atrial septal defect, Sudd... ORPHA:1880
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Attrv122I Amyloidosis
Cardiomegaly, Reduced ejection fraction, Arrhythmia, Congestive heart failure, Abnormal EKG, Abno... ORPHA:85451
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy OMIM:615184
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... ORPHA:439232
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Pneumonia, Ventricular tachycardia, Arrhythmia,... ORPHA:26793
Pulmonary Hypertension, Primary, 4
Atrial flutter, First degree atrioventricular block, Increased pulmonary vascular resistance, Rig... OMIM:615344
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Left ventricular noncompaction, Reduced ej... OMIM:613426
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation OMIM:613980
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 11
Atrial fibrillation OMIM:614049
Atrial Fibrillation, Familial, 6
Atrial fibrillation OMIM:612201
Loeffler Endocarditis
T-wave inversion, Right bundle branch block, Abnormal cardiomyocyte morphology, Endocardial fibro... ORPHA:75566
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Cirrhotic Cardiomyopathy
Right atrial enlargement, Abnormal cardiac exercise stress test, Third heart sound, Cardiomegaly,... ORPHA:57777
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Ventricular tachycardia OMIM:600649
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Timothy Syndrome
Tetralogy of Fallot, Pneumonia, Patent foramen ovale, Prolonged QT interval, Ventricular septal d... OMIM:601005
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block ORPHA:206559
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Abnormal left ventricular function, Hype... ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Sudden cardiac death, Arrhythmia OMIM:181350
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Congestive heart ... OMIM:619048
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Congestive heart failure, Sudden cardia... OMIM:610198
Coronary Arterial Fistula
Cardiomegaly, Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, A... ORPHA:2041
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Myopathy,... OMIM:618234
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Reduced ejection... OMIM:619371
Salih Myopathy
Dilated cardiomyopathy, Arrhythmia OMIM:611705
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Cardiac Diverticulum
Premature ventricular contraction, Tricuspid atresia, Pulmonary artery hypoplasia, Diastasis rect... ORPHA:1686
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Cardiomyopathy, Abnormal left ventricular function ORPHA:98912
Familial Idiopathic Dilatation Of The Right Atrium
Midsystolic murmur, Right atrial enlargement, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Myofibrillar Myopathy 10
Increased circulating troponin I concentration, EMG: myopathic abnormalities, Ankle flexion contr... OMIM:619040
Combined Oxidative Phosphorylation Deficiency 17
Failure to thrive, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypert... ORPHA:1345
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Absent ankle pulse, Myocardial infarction, Abnormality of venous p... ORPHA:90064
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Increased variability in muscle fiber diameter, Abnormal Z disc morphol... OMIM:618654
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:602390
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Collagenoma, Familial Cutaneous
Congestive heart failure, Tricuspid regurgitation, Atrial fibrillation, Vasculitis, Cardiomyopath... OMIM:115250
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatic failure, Abnormality of the liver, Arrhythmia, Splenomegaly, Hepa... ORPHA:398124
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... OMIM:300257
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Cardiomegaly, Aortic regurgitation, Systolic heart murmur, Conges... ORPHA:3092
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Cardiomyopathy OMIM:310200
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Dilated cardiomyopathy, Decreased cervical spine flexion... ORPHA:98855
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Heart Block, Congenital
Myocardial calcification, Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atriov... OMIM:234700
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy OMIM:604286
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopathy, Bradycardia OMIM:261740
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Left ventricular hypertrophy, Congestive heart failure ORPHA:206546
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Myotonic Dystrophy 1
Atrial fibrillation, Atrial flutter, First degree atrioventricular block OMIM:160900
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Hypertrophic cardiomyopathy OMIM:618250
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Mitral valve prolapse OMIM:616166
Malignant Hyperthermia Of Anesthesia
Ventricular tachycardia, High-output congestive heart failure, Premature ventricular contraction,... ORPHA:423
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Barth Syndrome
Dilated cardiomyopathy, Arrhythmia, Endocardial fibroelastosis, Congestive heart failure, Hypertr... OMIM:302060
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Ca... ORPHA:860
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98853
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Reduced systolic function OMIM:616827
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy OMIM:610768
Dk1-Cdg
EEG with generalized slow activity, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Arrhyt... ORPHA:91131
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Abnormal atrioventricular conduction, Atrioventricular block OMIM:118230
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrial septal defect, First degree atrioventricular block, Hypopl... ORPHA:392
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98863
Histiocytoid Cardiomyopathy
Cardiomegaly, Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart fa... ORPHA:137675
Sandhoff Disease
Congestive heart failure, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Failure t... ORPHA:796
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Retinal telangiectasia, Arrhythmia ORPHA:104
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Congestive heart ... OMIM:540000
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:255160
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Reduced systolic function, Ebstein anomaly of the tricuspid valve OMIM:619492
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive heart failure ORPHA:2022
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy OMIM:300718
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Atrial flutter, Abnormal tricuspid valve morphology, Partial atrioventricula... ORPHA:1330
Dystonia 23
Arrhythmia OMIM:614860
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy OMIM:615895
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Ventricular arrhythmia, Syncope, Palp... OMIM:609040
Atrial Septal Defect 1
Second degree atrioventricular block, Atrial septal defect, Subvalvular aortic stenosis, Atrial s... OMIM:108800
Illum Syndrome
Bradycardia OMIM:208155
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia OMIM:300695
Atrioventricular Septal Defect 3
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... OMIM:600309
Atrophoderma Vermiculata
Heart block ORPHA:79100
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Rhabdomyol... OMIM:616878
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia OMIM:615084
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Abnormal atrioventricular conduction, Orthostatic hypotension, Atrioventricular block OMIM:118301
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Dpm3-Cdg
Dilated cardiomyopathy ORPHA:263494
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Ventricular septal defect, Paroxy... ORPHA:49827
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy OMIM:300580
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy OMIM:612937
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypertrophic cardiomyopathy, Hepatomegaly, Palpitations, Syncope, Tach... ORPHA:276556
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Congestive heart failure, Reduced muscle carnitine... OMIM:212140
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Hemochromatosis, Type 2B
Congestive heart failure, Splenomegaly, Hepatomegaly, Cardiomyopathy, Elevated hepatic transamina... OMIM:613313
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Arrhythmia, Skeletal muscle atrophy, Congestive heart failure, Myopathy, Cac... ORPHA:157973
Myopathy, Centronuclear, 5
Dilated cardiomyopathy OMIM:615959
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Tachycardia OMIM:615821
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Butyrylcholinesterase Deficiency
Abnormality of the liver, Myocardial infarction, Congestive heart failure ORPHA:132
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Systolic heart murmur, Patent foramen ovale, Congestive heart failure, ... ORPHA:439
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Congestive heart failure, Bacterial endocarditis, Jaundice, Heart mu... ORPHA:615
Myopathy, Distal, 1
Dilated cardiomyopathy OMIM:160500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypertrophic cardiomyopathy, Hepatomegaly, Palpitations, Syncope, Tach... ORPHA:276575
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Hepatic failure, Ventricular tachycardia, Arrhythmia, Hypotension, Hepatomegaly, ... ORPHA:159
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Ogden Syndrome
Ventricular tachycardia, Arrhythmia, Torsade de pointes, Premature ventricular contraction, Atria... OMIM:300855
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy ORPHA:34515
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy OMIM:602541
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Obesity, Ventricular septal defect, Wolff-Parkinson-White syndrome OMIM:614947
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Systolic heart m... ORPHA:99104
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Myocardial fibrosis, Left ventricular noncompac... OMIM:619424
Myopathy, Myofibrillar, 3
Cardiomyopathy OMIM:609200
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypertrophic cardiomyopathy, Hepatomegaly, Palpitations, Syncope, Tach... ORPHA:276580
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cardiomyopathy OMIM:225740
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Elevated jugular venous pressure, Abnormal cardiovascular system ph... ORPHA:422
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy OMIM:608099
Immune-Mediated Necrotizing Myopathy
Myositis, Congestive heart failure, Skeletal muscle atrophy, Proximal muscle weakness in lower li... ORPHA:206569
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epistaxis ORPHA:251274
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Polymyositis
Dilated cardiomyopathy, Weight loss, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart fa... ORPHA:732
Scorpion Envenomation
Increased circulating troponin I concentration, Acute pancreatitis, Rhabdomyolysis, Arrhythmia, P... ORPHA:466677
Mcleod Syndrome
Dilated cardiomyopathy, Atrial fibrillation, Cardiomyopathy OMIM:300842
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Congestive heart failure, Hypertrophic cardiomyopathy, Decreased liver functio... ORPHA:70472
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Wo... OMIM:619566
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased variability in muscle fiber diameter, Hypertension, Scapular winging, Centrally nucleat... ORPHA:437572
Hemochromatosis, Type 1
Cardiomegaly, Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Pleural effusion,... OMIM:235200
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Kearns-Sayre Syndrome
Third degree atrioventricular block, Cardiomyopathy, Arrhythmia OMIM:530000
Liddle Syndrome
Cerebral ischemia, Hypertension, Arrhythmia ORPHA:526
Absence Of The Pulmonary Artery
Cardiomegaly, Tetralogy of Fallot, Atrial flutter, Reduced ejection fraction, Systolic heart murm... ORPHA:980
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Ischemic stroke, Myocardial... ORPHA:90065
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Cardiomegaly OMIM:266500
Classic Multiminicore Myopathy
Multiple joint contractures, Congenital muscular dystrophy, Congestive heart failure, Muscle fibe... ORPHA:324604
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Wild Type Abeta2M Amyloidosis
Abnormal tendon morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, De... ORPHA:85446
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced ejection fraction, Hyp... ORPHA:444013
Infantile Sialic Acid Storage Disease
Congestive heart failure, Splenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly OMIM:269920
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Myocardial infarction, Hypertension, Ce... ORPHA:31825
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Flexion contracture, Muscular dystrophy, Splenomegaly, Hepatomegaly, Failure t... OMIM:613327
Acquired Methemoglobinemia
Syncope, Tachycardia, Arrhythmia, Palpitations ORPHA:464453
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Flexion contracture, Arrhythmia, Congestive heart failure, H... ORPHA:1194
Combined Oxidative Phosphorylation Deficiency 45
Cardiac arrest OMIM:618951
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Congestive heart failure, Obesity, Myocardial infarction, Hypertension OMIM:615703
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement OMIM:611556
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Heart murmur, Congestive heart failure ORPHA:3400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Arrhythmia OMIM:609286
Eisenmenger Syndrome
Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle branch block, Atrial f... ORPHA:97214
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Failure to thrive, Congestive heart failure OMIM:616045
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:614299
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
EEG abnormality, Arrhythmia, Decreased liver function, Hypertension, Ventricular septal defect OMIM:617021
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Ventricular fibrillation, Shortened PR interval, Rhabdomyol... ORPHA:79102
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Failure to thrive, Hypertrophic cardiomyopathy, Arrhythmia OMIM:614702
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Tachycardia, Hypertension, Ventricular septal defect OMIM:613870
Glycogen Storage Disease Ii
Shortened PR interval, Wolff-Parkinson-White syndrome OMIM:232300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Pulmonary arterial hypertension, Hypertension, Ventricular ... ORPHA:369929
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Prolonged QT interval, Abnormal left ventricular function ORPHA:36913
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Familial Cutaneous Collagenoma
Atrial septal defect, Angina pectoris, Cardiomyopathy, Congestive heart failure ORPHA:53296
Mahvash Disease
Palpitations OMIM:619290
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Splenomegaly, Pleural effusion, Pulmonic stenosis, Hepatomegaly, Pulmon... ORPHA:2414
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Interictal epileptiform activity, Facial hypotonia, Congestive heart failure, Atrial septal defec... ORPHA:500533
Friedreich Ataxia
Abnormal echocardiogram, Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:252011
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Gitelman Syndrome
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia OMIM:263800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Shortened PR interval, Hypertrophic cardiomyopathy, Heart murmur, Low-output congestive heart fai... ORPHA:308552
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Short chordae tendineae of the mitral valve, Congestive heart failure, Bicu... OMIM:314400
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Small for gestational age, Hepatomegaly, Palpitations, Syncope, Tachyc... ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 38
Failure to thrive, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:618378
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure OMIM:301021
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Bidirectional ventricular ectopy, Prolonged QT interval, Syncope, Scapular winging,... OMIM:170390
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Mitral regurgitation, Dilated cardiomyopathy OMIM:212112
Myopathy, Distal, 4
Cardiomyopathy OMIM:614065
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Persistent fetal circulation... OMIM:618775
Atransferrinemia
Abnormality of the liver, Congestive heart failure OMIM:209300
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Rhabdomyolysis, Arrhythmia, Congestive heart failure, Small for gestation... OMIM:609015
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Hemochromatosis Type 2
Dilated cardiomyopathy ORPHA:79230
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure ORPHA:141179
Nemaline Myopathy 11, Autosomal Recessive
Cardiomyopathy OMIM:617336
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypertension, Palpitations, Intracranial hemorrhage, Epistaxis ORPHA:231625
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Contracture... ORPHA:324410
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatic failure, Portal hypertension, Hepatosplenomegaly, Flexion contrac... ORPHA:367
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis ORPHA:231111
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy OMIM:618120
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Skeletal myopathy, Arrhythmia, Congestive heart failure, Lower limb muscle weakne... ORPHA:746
Tetanus
Bradycardia, Tachycardia, Hypertension ORPHA:3299
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Pulmonary arterial hypertensio... ORPHA:275766
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy ORPHA:171442
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Generalized amyotrophy, Muscular ventri... ORPHA:66634
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hypertrophic cardiomyopathy, Acute hepatic failure, Fa... ORPHA:71212
Myotonic Dystrophy 2
Palpitations, Tachycardia OMIM:602668
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Ventricular fibrillation, Palpitations, Prolonged QT inte... ORPHA:358
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Splenomegaly, Myocarditis, Hepatomegaly, Cardiomyopathy ORPHA:3386
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Double outlet right ventricle, Hypertension, Bicuspid aortic valve, Ventric... ORPHA:371428
Nemaline Myopathy 3
Dilated cardiomyopathy OMIM:161800
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Symptomatic Form Of Hemochromatosis Type 1
Elevated jugular venous pressure, Portal hypertension, Arrhythmia, Congestive heart failure, Chol... ORPHA:465508
Rett Syndrome
Abnormal T-wave, EEG abnormality, Skeletal muscle atrophy, Cachexia, Prolonged QTc interval OMIM:312750
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Heart block, Capillary leak, Tachycardia ORPHA:542323
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure ORPHA:141184
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:168000
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hepatomegaly, Recurrent lower respiratory tra... OMIM:253250
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy ORPHA:329336
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:611126
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy OMIM:610100
African Iron Overload
Viral hepatitis, Hepatic steatosis, Congestive heart failure, Hepatic bridging fibrosis, Peritoni... ORPHA:139507
Rigid Spine Syndrome
Cardiac conduction abnormality ORPHA:97244
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Right ventricular hypertrophy... ORPHA:268
Cednik Syndrome
Abnormality of peripheral nerve conduction, Congestive heart failure ORPHA:66631
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Aspiration pneumonia, Abnormal heart morphology, Interictal EEG abnormality ORPHA:79264
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Abnormal left ventricular function OMIM:618098
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke ORPHA:280679
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Gastrointestinal hemorrhage, Congestive heart failure, Atria... ORPHA:90308
Hemochromatosis, Type 4
Hepatic steatosis, Arrhythmia, Hepatomegaly, Cardiomyopathy, Cirrhosis OMIM:606069
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Atrial fibrillation, Hypertension, Palpitations ORPHA:525731
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Pericarditis, Congestive heart failure ORPHA:163596
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015