Method to diagnose or determine the genetic predisposition to develop hypertrophic cardiomyopathy.

摘要

Method for diagnosing or determining genetic predisposition to developing hypertrophic cardiomyopathy.; The method for diagnosing or determining genetic predisposition of a subject to develop hypertrophic cardiomyopathy (HCM), both familial and sporadic, is based on the identification of point mutations in MYH7, encoding the heavy chain of human beta myosin heart, associated with the development of HCM. Said method is a useful diagnostic tool which is particularly important when asymptomatic subjects suspected of having the disease are studied. Symptomatic subjects can be diagnosed by a doctor. Asymptomatic subjects from families with a history of MCH can be studied using this method selectively allowing have a diagnosis before onset of the disease. Individuals who have the mutation associated with the disease can advise them of appropriate behavior guidelines.