Features include always present findings: Myofiber disarray, Enlarged heart (cardiomegaly), Respiratory distress, and Thickened heart muscle (hypertrophic cardiomyopathy) and others; and common findings: Right atrial enlargement, Reduced left ventricular ejection fraction, Ascites, and First degree atrioventricular block and others. 27 total HPO annotations.

MYBPC3 encodes myosin binding protein C3 (1,274 aa). Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. Highest expression in Heart Left Ventricle (1,351 TPM) and Heart Atrial Appendage (991.7 TPM).

Hypertrophic cardiomyopathy 4 is associated with mutations in the MYBPC3 gene on chromosome 11.

MYBPC3 is classified as a druggable target (Kinase category) with score 6.5.

Genetic testing for MYBPC3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypertrophic cardiomyopathy 4 has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 8 common features.

No clinical trials have been registered for hypertrophic cardiomyopathy 4.

249 publications have been identified in PubMed for hypertrophic cardiomyopathy 4. Kisho has analyzed 144 by research type. Research spans Epidemiology / Natural History (28%), Clinical Trial Publication (27%), and Review / Meta-Analysis (18%).