Pesquisa de marcadores para os genes da cadeia pesada da beta-miosina cardíaca e da proteína C de ligação à miosina em familiares de pacientes com cardiomiopatia hipertrófica

Abstract

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.

Avaliação diagnóstica da cardiomiopatia hipertrófica em fase clínica e pré-clínica

“…Early studies based on large pedigrees relate certain phenotypes to the mutant genes and discriminate between mutations with good and poor prognosis 7,10,11 . More recent studies provided new data on HCM clinical and genetic profile, revealing less specific phenotypes and lower prevalence of malignant mutations 31,70,71 . For the purpose of prognostic evaluation, it is necessary to expand the analysis of genotype-phenotype relationships, including larger, unrelated families with a higher number of affected members 7,20 .…”

Estratificação de risco para morte súbita na cardiomiopatia hipertrófica: bases genéticas e clínicas

“…Mutations of the cardiac beta-myosin heavy chain affect 15% to 35% of the people with HCM 29,[32][33][34] . Most are distinct and designated as missense in which the substitution of a single DNA basis results in the replacement of the coded aminoacid 32 .…”