dilated cardiomyopathy 1S
Findings
No curated finding names dilated cardiomyopathy 1S yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.
Definition from the Mondo Disease Ontology (MONDO:0013262), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Interstitial cardiac fibrosisHPOHP:0031329
- 1 of 1 reported patient
- Left ventricular noncompactionHPOHP:0030682
- 21 of 23 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 17 of 21 reported patients
- Tricuspid regurgitationHPOHP:0005180
- 3 of 4 reported patients
- Congestive heart failureHPOHP:0001635
- 16 of 42 reported patients
- Sudden cardiac deathHPOHP:0001645
- 6 of 23 reported patients
- Ebstein anomaly of the tricuspid valve
Show the remaining 3
- Pulmonary arterial hypertensionHPOHP:0002092
- 1 of 19 reported patients
- Ventricular arrhythmiaHPOHP:0004308
- 0 of 4 reported patients
- Dilated cardiomyopathyHPOHP:0001644
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MYH7HGNC:7577
- Definitive · ClinGen · Autosomal dominant · 2026
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Ambry Genetics · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1S
- Also called
- cardiomyopathy, dilated, type 1SCMD1Sdilated cardiomyopathy type 1Sfamilial isolated dilated cardiomyopathy caused by mutation in MYH7MYH7 familial isolated dilated cardiomyopathy