Objective: To study the molecular markers for the genes of the heavy chain of cardiac beta-myosin and the myosin binding protein C in relatives of carriers of hypertrophic cardiomyopathy.
Methods: Twelve families who had anamnesis, physical exam, electrocardiogram, echocardiogram and blood collection for the genetic study through the chain reaction of polymerase.
Results: From the 227 relatives, 25% were ill-taken, with 51% men, with an average age of 35+/-19 (2 to 95) years old. The genetic analysis showed a connection with the gene of the cardiac b-myosin in a family and, in another, a connection with the gene of the myosin-binding protein C. In five families, the connections with the two genes were excluded; in two, the connection with the gene of the myosin-binding protein C, but for the b-myosin gene the results were non-conclusive; in two families, the results were non-conclusive for both genes and in one the connection for the b-myosin gene was excluded. The results were non-conclusive for the gene of the myosin-binding protein C.
Conclusion: In our environment, other genes, different from those described in the literature, may prevail, or there are other genetic differences related to the origin of our population and/or environmental factors.