170 Ethnic differences in phenotypic expression of hypertrophic cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Phenotypic diversity in hypertrophic cardiomyopathy.
In recent years, the main focus of human genetic studies on hypertrophic cardiomyopathy (HCM) switched from discovering novel genes and defining disease-causing mutations to studies of mutation distribution in disease populations. Eventually these studies will define genotype-phenotype relationships, which may provide clues to understanding the disease process and help to select the most approp...
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Hypertrophic cardiomyopathy (HCM) is a common cardiac disorder associated with sudden cardiac death, characterised by an unexplained increase in left ventricular wall thickness or mass. The prevalence is about one in 500 of the general population, aff ecting men and women of all ages and ethnic backgrounds who present with ventricular hypertrophy, leftventricular outfl ow tract obstruction, hea...
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OBJECTIVE To investigate the role of inflammation in the phenotypic expression of myocardial fibrosis in hypertrophic cardiomyopathy (HCM). DESIGN Clinical study. SETTING Kuopio University Hospital and University of Eastern Finland, Kuopio, Finland. SUBJECTS Twenty-four patients with a single HCM-causing mutation D175N in the α-tropomyosin gene and 17 control subjects. MAIN OUTCOME MEAS...
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Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutations. The association between HCM genotype and phenotype has been the subject of several studies since the d...
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ژورنال
عنوان ژورنال: Heart
سال: 2011
ISSN: 1355-6037
DOI: 10.1136/heartjnl-2011-300198.170