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Miocardiopatia hipertrófica : pertinência dos testes genéticos e acompanhamento de portadores assintomáticos (genótipo +/fenótipo -)
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A Miocardiopatia Hipertrófica (MH) é a doença cardíaca de transmissão genética mais frequente no mundo, com uma prevalência de 0,2%. Apesar da sua frequência, a MH está mal documentada, havendo poucos estudos randomizados e controlados sobre a mesma. Existem actualmente várias estratégias terapêuticas a aplicar nos doentes com fenótipo de MH. Neste trabalho, apresenta-se um caso clínico familiar paradigmático desta doença.
Os testes genéticos são aconselhados nos casos de MH confirmada ou suspeita e nos familiares de 1º grau dos doentes, sendo auxiliares no diagnóstico e aconselhamento familiar. Porém, estes testes são apenas preditivos, e sem relação estabelecida entre a mutação detectada e o prognóstico. Como tal, não há consenso sobre como lidar com os portadores assintomáticos (genótipo +, fenótipo -) quanto à prática de desporto e implantação de cardioversor desfibrilhador implantável (CDI). A decisão continua a basear-se no parecer clínico e nos factores de risco presentes.
Hypertrophic Cardiomyopathy (HCM) is the most common cardiac disease of genetic transmission, at a 0,2% prevalence. Despite its frequency, it is poorly documented, with few randomized and controlled studies published about the subject. Nowadays, there are many therapies available for patients with a positive HCM phenotype. In this thesis, a typical familial case of this disease is presented. Genetic testing is recommended in confirmed or suspected cases of HCM and patients' first degree relatives, being a helpful tool in the diagnosis and familial counseling. However, the tests are merely predictive and there hasn't been made a connection between the mutations found and the prognosis. Therefore, there is no agreement on how to handle asymptomatic carriers (genotype +, phenotype -) on sports performance and implantation of cardioverter-defribillators (ICD). The decision is still made upon clinical judgment and presence or absence of risk factors.
Hypertrophic Cardiomyopathy (HCM) is the most common cardiac disease of genetic transmission, at a 0,2% prevalence. Despite its frequency, it is poorly documented, with few randomized and controlled studies published about the subject. Nowadays, there are many therapies available for patients with a positive HCM phenotype. In this thesis, a typical familial case of this disease is presented. Genetic testing is recommended in confirmed or suspected cases of HCM and patients' first degree relatives, being a helpful tool in the diagnosis and familial counseling. However, the tests are merely predictive and there hasn't been made a connection between the mutations found and the prognosis. Therefore, there is no agreement on how to handle asymptomatic carriers (genotype +, phenotype -) on sports performance and implantation of cardioverter-defribillators (ICD). The decision is still made upon clinical judgment and presence or absence of risk factors.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2015
Palavras-chave
Cardiomiopatia hipertrófica Testes genéticos Portador assintomático Genótipo Fenótipo