Article
Familial Hypertrophic Cardiomyopathy - Identification of cause and risk stratification through exome sequencing.
Gene - 20 Jun 2018
Biswas Amitabh, Das Soumi, Kapoor Mitali, Shamsudheen Karuthedath Vellarikkal, Jayarajan Rijith, Verma Ankit, Seth Sandeep, Bhargava Balram, Scaria Vinod, Sivasubbu Sridhar, Rao V R
Abstract excerpt
BACKGROUND: Hypertrophic Cardiomyopathy (HCM) with variable clinical presentations and heterogeneity is the common cause of sudden cardiac death. Genetic diagnosis is challenging in these complex diseases but exome sequencing as a genetic diagnostic tool provides explainable results. METHODS: In a familial Hypertrophic Cardiomyopathy with multigenerational inheritance with apparent phenotype, had a history of...
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