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2004, Number s2

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Arch Cardiol Mex 2004; 74 (s2)

Molecular diagnosis in cardiology. Hypertrophic miocardiopathy in mexicans

Jay D, Buendía A, Medina MA, Cervantes G, García T, García EJ, Ibarra ML, Meave A, Arquímedes E, Azuara H

Language: Spanish
References: 21
Page: 344-348
PDF size: 74.13 Kb.


ABSTRACT

Hypertrophic cardiomyopathy (HCM) is one of the most frequently occurring inherited cardiac disorders, affecting up to 1 in 500 of the population. Molecular genetic analysis has shown that HCM is a disease of the sarcomere, caused by more than a hundred mutations in cardiac contractile protein genes. To date nine disease-associated genes have been identified. This genetic heterogeneity is associated with a wide range of clinical features, such as a variable degree of left ventricular hypertrophy, a variable age of onset, and a variable degree of risk for sudden cardiac death. This diversity explains why molecular genetic studies in this regard are of paramount importance. Knowledge of the set of mutations will provide insights into the mechanisms by which these alterations cause cardiac disease as well as provide useful tools for the genetic diagnoses of these conditions. Genetic testing will also allow to better stratify the prognosis of a given HCM patient. Despite this knowledge, there is no available information associate with the incidence of genetic alterations causing HCM in populations in the south hemisphere. The purpose of the present communication is to briefly describe some of the alterations in the genetic material that can lead to HCM. We also show the first allelic variant (14136 T›C; Leu950Pro) identified in Mexico as the cause of HCM.


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