Key result
Genetic analyses identify causal gene mutations across hypertrophic cardiomyopathy, long QT syndrome, and Marfan syndrome.
Why the study?
Complete understanding of the causes and pathogenesis of cardiovascular disease is imperative to develop specific therapeutic modalities tailored to underlying abnormalities.
Answers are grounded in this paper and cite their sources.
May inform precision approaches in inherited syndromes; leaves open translation to routine testing or therapies pending validation.
Cardiovascular disease is the one of the most important causes of morbidity and mortality throughout the world. Despite the advances in technology in the surgical or interventional therapies, complete understanding of the causes and pathogenesis of the disease is imperative to develop specific therapeutic modalities tailored to those underlying abnormalities. Recent progress in molecular biology has markedly expanded our knowledge of the pathophysiology of many cardiovascular diseases. Such an evolution of the basis science of cardiovascular medicine will allow the physician to treat the primary dysfunction rather than treating secondary manifestations. This review is designed to illustrate the impact of molecular biology on cardiovascular medicine with an emphasis on the pathogenesis of cardiac hypertrophy, and identification of the genes responsible for familial hypertrophic cardiomyopathy, long QT syndrome, and inherited vasculopathies such as Marfan syndrome.
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Kurabayashi et al. (1996) conducted a review in Cardiac hypertrophy, familial hypertrophic cardiomyopathy, long QT syndrome, and Marfan syndrome. Molecular biology and genetic analyses have identified specific gene mutations responsible for familial hypertrophic cardiomyopathy, long QT syndrome, and Marfan syndrome.
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