hypertrophic cardiomyopathy, familial, TCAP associated

Pathology

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

Genetics

• associated with defects in TCAP

Clinical manifestations

• dyspnea
• syncope
• collapse
• palpitations
• chest pain
• symptoms can be readily provoked by exercise
• risk of cardiac failure & sudden cardiac death

More general terms

• familial hypertrophic cardiomyopathy

Additional terms

• telethonin; titin cap protein (TCAP)

Database

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