familial hypertrophic cardiomyopathy, type 4

Pathology

• ventricular hypertrophy
  • usually asymmetric
  • often involves the interventricular septum

Genetics

• associated with defects in MYBPC3
• inter- & intrafamilial variability

Clinical manifestations

• dyspnea
• palpitations
• chest pain
• syncope
• symptoms provoked by exercise

Laboratory

• MYBPC3 gene mutation

Complications

• sudden cardiac death

Management

• investigational
  • MYBPC3 gene mutation successfully repaired in human embryos using CRISPR technology

More general terms

• familial hypertrophic cardiomyopathy

Database

• OMIM: https://mirror.omim.org/entry/115197
• OMIM: https://mirror.omim.org/entry/600958