Method to diagnose or determine the genetic predisposition to develop hypertrophic myocardiary. (Machine-translation by Google Translate, not legally binding)

摘要

Method to diagnose or determine the genetic predisposition to develop hypertrophic cardiomyopathy. The method to diagnose or determine the genetic predisposition of a subject to develop hypertrophic cardiomyopathy (hcm), both familial and sporadic, is based on the identification of point mutations in the myh7 gene, which codes for the heavy chain of human cardiac myosin beta, associated with the development of mch. This method is a useful diagnostic tool that is particularly important when studying asymptomatic subjects with suspected disease. Symptomatic subjects can be diagnosed by a doctor. Asymptomatic subjects from families with a history of hcm can be selectively studied using this method, which allows a diagnosis to be made before the onset of the disease. Individuals with the mutation associated with the disease may be advised to adopt appropriate behavior guidelines. (Machine-translation by Google Translate, not legally binding)