【摘 要】
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Apical hypertrophic cardiomyopathy (AHCM) is a relatively rare form of hypertrophic cardiomyopathy (HCM).Moreover,apical hypertrophy is occasionally overlooked in clinical practice and usually involve
【机 构】
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ZheJiang Provincial People's Hospital, HangZhou
【出 处】
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2016年浙江省医学会心电生理与起搏学术年会
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Apical hypertrophic cardiomyopathy (AHCM) is a relatively rare form of hypertrophic cardiomyopathy (HCM).Moreover,apical hypertrophy is occasionally overlooked in clinical practice and usually involved with genetic variations encoding sarcomeric proteins.In this report,a 68-year-old male presented with exercise-induced angina and giant negative T-waves in the precordial leads was eventually diagnosed with severe AHCM by echocardiography and left ventriculogram.We further sequenced 11 exons of the most frequent HCM-causing genes,and a novel mutation of Ser 236 Gly in myosin-binding protein C (MYBPC3) gene was found.The patient did not suffer from malignant cardiovascular events during the three years follow-up,which may be associated with the patient without left ventricular outflow tract obstruction and Ser 236 Gly mutation in MYBPC3 gene as a relatively benign variation.
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