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Nascer e Crescer

versão impressa ISSN 0872-0754

Nascer e Crescer vol.25  supl.1 Porto dez. 2016





Genetic counseling and family implications in hypertrophic cardiomyopathy



Oana Moldovan1

1Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria/CHLN, CAML, Lisboa




Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular diseases, with a prevalence of at least 1 in 500 in the general population. HCM is characterized by left ventricular hypertrophy, in the absence of other loading conditions, such as hypertension or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The characteristic feature of HCM is the substantial clinical and genetic heterogeneity in presentation, ranging from asymptomatic patients to progressive heart failure and sudden cardiac death (SCD). HCM can occur at any age, most often in young adults, although it may also develop late in life, or in childhood. HCM represents the most frequent cause of SCD in teenagers and young adults, especially in athletes.

Familial HCM caused by pathogenic variants in one of the genes that encodes different components of the sarcomere is inherited in an autosomal dominant pattern. In more than half of the HCM patients the disease-causing mutation is detected by the current genetic tests. After the detection of the causal mutation in the proband, the cascade screening by predictive DNA testing of relatives is possible. Prevention of SCD in patients with a high risk by means of an implantable cardioverter defibrillator is effective.

The benefits and limitations of the genetic testing and the categories of possible results (positive, variant of unknown significance and negative) will be discussed.

Genetic counseling before and after genetic testing, including discussion of risks, benefits, reproductive, professional, and sports advice, will increase understanding of the medical and familial implications of test results.

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