Molecular genetics in hypertrophic cardiomyopathy

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Genetics of hypertrophic cardiomyopathy in Norway.

Genetic testing for hypertrophic cardiomyopathy (HCM) became available in Norway in 2003. Here, we describe the results of this testing in probands with HCM referred until the end of 2012. The translated exons of MYBPC3, MYH7, TNNI3, TNNT2, MYL2 and MYL3 were analyzed in two groups of probands. In Group 1, comprising 696 probands above 1 year of age, a mutation was found in 203 patients (29.2%)...

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The genetics and semantics of hypertrophic cardiomyopathy.

We read with interest the article by Maron et al.1 We would like to commend them for utilizing the term, “hypertrophic cardiomyopathy,” in this report, instead of the term, “asymmetric septal hypertrophy,” which has now proven rather nonspecific. We were also pleased to note that Maron et al1 now recognize that asymmetric septal hypertrophy is not pathognomonic of hypertrophic cardiomyopathy. N...

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DIFFUSE CORONARY ARTERIAL ECTASIA WITH HYPERTROPHIC CARDIOMYOPATHY

A 40 year old male, a known case of hypertrophic cardiomyopathy, was admitted for catheterization. At catheterization and angiography, septum was hypertrophied to about 5cm and diffuse coronary artery aneurysm was revealed. We found no previous report of coronary artery aneurysm in hypertrophic cardiomyopathy.

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Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants

The South Asian population, numbered at 1.8 billion, is estimated to comprise around 20% of the global population and 1% of the American population, and has one of the highest rates of cardiovascular disease. While South Asians show increased classical risk factors for developing heart failure, the role of population-specific genetic risk factors has not yet been examined for this group. Hypert...

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Progress in the molecular genetics of hypertrophic cardiomyopathy: a mini-review.

BACKGROUND Hypertrophic cardiomyopathy (HCM), which is characterized by unexplained and asymmetric left ventricular hypertrophy in the absence of other cardiac or systemic diseases, is an inherited cardiovascular disease and presents rising penetrance with aging. OBJECTIVE The purpose of this review is to offer an outline of recent progress in the molecular genetics of HCM and to discuss char...

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ژورنال

عنوان ژورنال: Cor et Vasa

سال: 2007

ISSN: 0010-8650,1803-7712

DOI: 10.33678/cor.2007.052