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Miocardiopatia hipertrófica não sarcomérica : casos clínicos
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A miocardiopatia hipertrófica é uma patologia em que há hipertrofia miocárdica não causada por patologia hipertensiva, valvular ou outras situações que decorrem com aumento de pós-carga. A miocardiopatia hipertrófica não sarcomérica, tratada neste trabalho, não é causada por mutações em proteínas do sarcómero.
Uma das causas da miocardiopatia hipertrófica é a doença de Fabry, doença genética multissistémica com hereditariedade ligada ao cromossoma X, que resulta de uma mutação no gene que codifica a enzima α–galactosidase, originando uma acumulação intracelular de globotriaosilceramida. A nível cardíaco, este fenómeno leva a aumento da espessura miocárdica, com consequente disfunção diastólica, arritmias e perturbações da condução. É apresentado o caso clínico de um doente assintomático do ponto de vista cardiovascular, referindo apenas hipohidrose e uma ligeira proteinúria, a quem foi detectado num ecocardiograma uma hipertrofia do septo interventricular de novo aos 65 anos. Após realização de vários exames auxiliares de diagnóstico, foi-lhe detectada uma mutação genética associada à variante cardíaca da doença de Fabry.
Outra causa para este fenótipo é a amiloidose, cujas manifestações resultam da deposição de proteínas insolúveis resistentes à proteólise. Trata-se de uma doença multissistémica que, quando atinge o coração, leva ao aumento da espessura miocárdica, a perturbações da condução e a fibrose. É apresentado o caso clínico de um doente que foi diagnosticado com amiloidose, associada a uma mutação no gene da transtirretina, após início de seguimento por palpitações. O ecocardiograma mostrou hipertrofia miocárdica, com ventrículos de dimensões normais, dilatação auricular e hipertensão pulmonar e na ressonância magnética cardíaca foi detectada fibrose extensa do miocárdio.
Hypertrophic cardiomyopathy is a disease in which there is myocardial hypertrophy, not caused by hypertensive, valvular or other conditions associated with increased overload. Non-sarcomeric hypertrophic cardiomyopathy, which is the subject of this work, is not caused by mutations in sarcomeric proteins. Fabry’s disease is one possible cause of hypertrophic cardiomyopathy. It is a multisystemic genetic disease with X-linked inheritance, that is a result of a mutation in the gene coding for the α-galactosidase enzyme, originating an intracelular accumulation of globotriaosylceramide. On a cardiac level, this phenomenon increases the myocardial thickness, with a consequent diastolic dysfunction, arrythmias and conduction disturbances. It is presented a case report of a patient with no cardiovascular symptoms, only stating hypohidrosis and mild proteinuria, in whom it was detected a de novo asymetric interventricular septal hypertrophy at 65 years of age. Following several diagnostic investigations, a genetic mutation associated to a cardiac variant of Fabry’s disease was detected. Another cause is amyloidosis, in which the manifestations are a result of the deposition of insoluble proteins, resistant to proteolysis. It is a multisystem disease, which, when targets the heart, increases the myocardial thickness, causes conduction disturbances and fibrosis. It is presented a case report of a patient that was diagnosed with amyloidosis associated with a mutation in the transthyrretin gene, after starting follow-up for palpitations. The echocardiogram showed myocardial hypertrophy, with normal-sized ventricles, atrial enlargement and pulmonary hypertension and in the cardiac magnetic ressonance extensive myocardial fibrosis was detected.
Hypertrophic cardiomyopathy is a disease in which there is myocardial hypertrophy, not caused by hypertensive, valvular or other conditions associated with increased overload. Non-sarcomeric hypertrophic cardiomyopathy, which is the subject of this work, is not caused by mutations in sarcomeric proteins. Fabry’s disease is one possible cause of hypertrophic cardiomyopathy. It is a multisystemic genetic disease with X-linked inheritance, that is a result of a mutation in the gene coding for the α-galactosidase enzyme, originating an intracelular accumulation of globotriaosylceramide. On a cardiac level, this phenomenon increases the myocardial thickness, with a consequent diastolic dysfunction, arrythmias and conduction disturbances. It is presented a case report of a patient with no cardiovascular symptoms, only stating hypohidrosis and mild proteinuria, in whom it was detected a de novo asymetric interventricular septal hypertrophy at 65 years of age. Following several diagnostic investigations, a genetic mutation associated to a cardiac variant of Fabry’s disease was detected. Another cause is amyloidosis, in which the manifestations are a result of the deposition of insoluble proteins, resistant to proteolysis. It is a multisystem disease, which, when targets the heart, increases the myocardial thickness, causes conduction disturbances and fibrosis. It is presented a case report of a patient that was diagnosed with amyloidosis associated with a mutation in the transthyrretin gene, after starting follow-up for palpitations. The echocardiogram showed myocardial hypertrophy, with normal-sized ventricles, atrial enlargement and pulmonary hypertension and in the cardiac magnetic ressonance extensive myocardial fibrosis was detected.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2017
Palavras-chave
Miocardiopatia hipertrófica Doença de Fabry Amiloidose Transtirretina Globotriaosilceramida Cardiologia