A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients
| Autor: | Hiroshi Mabuchi, Masami Shimizu, Hidenobu Terai, Hidekazu Ino, Masato Yamaguchi, Tomohito Mabuchi, Tatsumi Hayashi, Toru Matsuyama, Kenji Sakata, Tetsuo Konno, Masaru Kiyama, Kenshi Hayashi, Masaru Inoue, Tomoya Kaneda |
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| Rok vydání: | 2003 |
| Předmět: |
Proband
Adult Cardiomyopathy Dilated Male medicine.medical_specialty Heart disease Adolescent Mutation Missense Comorbidity Gene mutation Polymerase Chain Reaction Risk Assessment Severity of Illness Index Cohort Studies Electrocardiography Ventricular Dysfunction Left Age Distribution Japan Internal medicine Prevalence Medicine Missense mutation Humans Genetic Predisposition to Disease cardiovascular diseases Genetic Testing Aged Polymorphism Genetic business.industry Hypertrophic cardiomyopathy Dilated cardiomyopathy Cardiomyopathy Hypertrophic Middle Aged medicine.disease Penetrance Pedigree Survival Rate Echocardiography Myosin binding Cardiology cardiovascular system Female business Carrier Proteins Cardiology and Cardiovascular Medicine |
| Zdroj: | Journal of the American College of Cardiology. 41(5):781-786 |
| ISSN: | 0735-1097 |
| DOI: | 10.1016/s0735-1097(02)02957-1 |
| Popis: | ObjectivesWe studied the clinical features of hypertrophic cardiomyopathy (HCM) caused by a novel mutation in the myosin binding protein-C (MyBP-C) gene in patients and family members of Japanese descent.BackgroundPrevious reports have demonstrated that the clinical features of HCM associated with mutations in the MyBP-C gene include late onset and a favorable clinical course. Recently, some mutations in genes encoding sarcomeric proteins have been reported to be a cause of dilated cardiomyopathy (DCM), as well as HCM. However, mutations of the MyBP-C gene have not been reported as a cause of DCM up to now.MethodsWe analyzed MyBP-C gene mutations in 250 unrelated probands with HCM and in 90 with DCM. We used electrocardiography (ECG) and echocardiography to determine clinical phenotypes.ResultsWe identified 17 individuals in 8 families (7 HCM, 1 DCM) with an Arg820Gln mutation in the MyBP-C gene. Overall, 2 (40%) of 5 carriers age >70 years displayed “burnt-out” phase HCM, and one of them had been diagnosed as having DCM before genetic identification. The disease penetrance in subjects age >50 years was 70% by echocardiography and 100% by ECG, and that in those age |
| Databáze: | OpenAIRE |
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