Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.4/322
Título: Miocardiopatia Hipertrófica: Estado da Arte em 2007
Outros títulos: Hypertrophic cardiomyopathy: state of the art in 2007
Autor: Monteiro, S
Costa, S
Monteiro, P
Gonçalves, L
Providência, LA
Palavras-chave: Miocardiopatia Hipertrófica
Data: 2008
Editora: Sociedade Portuguesa de Cardiologia
Citação: Rev Port Cardiol. 2008 May;27(5):625-37
Resumo: Hypertrophic cardiomyopathy (HCM) is a primary disease of the sarcomere, with considerable genetic heterogeneity and variability in phenotypic expression, whose main complication is sudden cardiac death (SCD). Genetic aspects of HCM, its molecular pathophysiology and genotype-phenotype relationships are the subject of this review, which is aimed at better understanding of practical management in this patient population. As HCM is a genetic disease whose initial manifestation can be sudden death, it is essential to establish the diagnosis at an early stage, to proceed with risk stratification and implementation of SCD prevention strategies, and to promote genetic counseling of patients and screening of their families. Detection of pathological mutations through progressive sequencing of the genes most commonly involved is the most efficient way to diagnose HCM, even in the absence of clinical evidence of the disease. Identification of individuals at high risk of SCD is a major challenge in the management of this population, since SCD can be prevented by use of an implantable cardioverter-defibrillator. The selection of patients for prophylactic implantation of these devices, particularly those who have only one major risk factor, is currently the subject of controversy.
URI: http://hdl.handle.net/10400.4/322
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