familial hypertrophic cardiomyopathy, type 1

Epidemiology

prevalence is 0.2%

Genetics

• caused by defects in MYLK2 gene
• caused by defects in MYH7 gene

Clinical manifestations

• ventricular hypertrophy
  • generally asymmetric
  • often involves the interventricular septum
• clinically heterogeneous
• symptoms may include:
  • dyspnea
  • syncope
  • palpitations
  • chest pain

Complications

• heart failure
• sudden cardiac death

More general terms

• familial hypertrophic cardiomyopathy

Additional terms

• myosin heavy chain 7; myosin-7; myosin heavy chain beta, cardiac muscle isoform; MyHC-beta; myosin heavy chain slow isoform; MyHC-slow (MYH7, MYHCB)
• myosin light chain kinase-2 (MLCK2, MYLK2, skeletal/cardiac muscle)

Database

• OMIM: https://mirror.omim.org/entry/192600
• OMIM: https://mirror.omim.org/entry/160760