134 Mutations in the sarcomere protein gene MYH7 in Ebstein's anomaly
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چکیده
منابع مشابه
Mutations in the sarcomere gene MYH7 in Ebstein anomaly.
BACKGROUND Ebstein anomaly is a rare congenital heart malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7 encoding β-myosin heavy chain has been shown; in this report, we have screened for MYH7 mutations in a cohort...
متن کاملEbstein’s anomaly may be caused by mutations in the sarcomere protein gene MYH7
Ebstein's anomaly is a rare congenital heart malformation characterised by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. Associated abnormalities of left ventricular morphology and function including left ventricular noncompaction (LVNC) have been observed. An association between Ebstein's anomaly with LVNC and mutations in the sarcomeric pr...
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BACKGROUND Hypertrophic cardiomyopathy, a familial myocardial condition caused by sarcomere protein mutations, is usually recognized by early adulthood. Hypertrophic cardiomyopathy of the elderly has similar clinical features but, notably, a later age of onset and noncontributory family history. Causes of elderly-onset hypertrophic cardiomyopathy are unknown. METHODS AND RESULTS Eighteen wome...
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BACKGROUND Apical hypertrophic cardiomyopathy (HCM) is a unique form of HCM with left ventricular hypertrophy confined to the cardiac apex. The purpose of our study was to report genetic findings in a large series of unrelated patients with apical HCM and compare them with a nonapical HCM cohort. METHODS AND RESULTS Overall, 429 patients with HCM underwent genetic testing. The panel included ...
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A 49-year-old man with bicuspid aortic valve (BAV) and mild-to-moderate aortic valvular stenosis was referred for investigation of a dilated cardiomyopathy. At the time of presentation, he was physically active, New York Heart Association class I. Physical examination revealed a grade III/ VI harsh crescendo-decrescendo murmur at right upper sternal border radiating to both carotids. His 12-lea...
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ژورنال
عنوان ژورنال: Heart
سال: 2011
ISSN: 1355-6037
DOI: 10.1136/heartjnl-2011-300198.134