novel Genetic Variants May Modify The Clinical Outcome Of The Phospholamban L39x Mutation In Cardiomyopathy Patients

Background Dilated Cardiomyopathy (DCM) is a leading cause for heart failure characterized by an enlarged ventricular cavity causing systolic dysfunction. Gene mutations are estimated to be the cause in approximately 30-50% of cases, while modifier genes are thought to influence the clinical outcome. Objectives Using a global and unbiased approach: Next Generation Sequencing (NGS), for one of the largest reported cardiac gene panels, QCRC aims at discovering novel gene variants implicated in DCM pathogenesis and/or progression. Method Through the QCRC Doha-centered intercontinental DCM patient cohort, we screened 38 DCM cases, confirmed by echocardiography, who did not have a history of alcoholism or coronary angiography findings. Patients were recruited following genetic counseling and informed consent, according to institutionally approved ethics protocols. High quality DNA was extracted from peripheral blood, 170 DCM known and candidate genes (=1.6Mbases) were sequenced using the HiSeq Illumina technol...