Pathogenicity of Hypertrophic Cardiomyopathy Variants
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چکیده
منابع مشابه
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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Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease primarily caused by mutations in genes coding for sarcomeric proteins. A molecular-genetic etiology can be established in ~60% of cases. Evolutionarily conserved mitochondrial DNA (mtDNA) haplogroups are susceptibility factors for HCM. Several polymorphic mtDNA variants are associated with a variety of late-onset degenerative diseas...
متن کاملAssigning a causal role to genetic variants in hypertrophic cardiomyopathy.
Formin Homology 2 Domain Containing 3 Variants Associated With Hypertrophic Cardiomyopathy Eric C. Wooten, PhD; Virginia B. Hebl, MD; Matthew J. Wolf, MD, PhD; Sarah R. Greytak, PhD; Nicole M. Orr, MD; Isabelle Draper, PhD; Jenna E. Calvino, BA; Navin K. Kapur, MD; Martin S. Maron, MD; Iftikhar J. Kullo, MD; Steve R. Ommen, MD; J. Martijn Bos, MD, PhD; Michael J. Ackerman, MD, PhD; Gordon S. Hu...
متن کاملHypertrophic Cardiomyopathy
Circulation Research is available at http://circres.ahajournals.org DOI: 10.1161/CIRCRESAHA.117.311059 Abstract: Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle with preserved or increased ejection fraction. It is commonly asymmetrical with the most severe hypertrophy in...
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ژورنال
عنوان ژورنال: Circulation: Cardiovascular Genetics
سال: 2017
ISSN: 1942-325X,1942-3268
DOI: 10.1161/circgenetics.117.001916