Maryam Eslami - استادیار دانشگاه مشاور ژنتیک کلینیک پروفسور فرهود و مرکز بین المللی پزشکی فردمحور آلمان

Introduction: Cardiomyopathies are a heterogeneous and critical category of heart disorders, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC) (Zhao et al., 2015). A considerable reason of heart problems in all age groups is inherited cardiomyopathies, often with an onset in adolescence or early adult life. The patients and their families can be seriously affected by these diseasesMaterials & Methods: Next generation sequencing (NGS) followed by data analysis focused on genes associated with heart disorders was carried out in the proband, a 42-year-old woman with cardiomyopathy and her two offspring.Results: Variations in different genes coding for crucial proteins in cardiac muscle structure like titin, obscurin, MYH6, LAMA4 and also proteins involved in channels such as CAVNA1C, SCN1B and SCN5A, were detected by whole exome sequencing. According to clinical manifestations and molecular findings of involvement of large number of genes in the affected family members, dilated cardiomyopathy is suggested.Conclusion & Discussion: this study provides further evidence on the critical role of next generation sequencing technique in characterizing such heterogeneous disorders. It also indicates that recently developed high throughput sequencing can provide clinicians with new devices for early diagnosis, targeted treatment, and prevention of such otherwise clinically hard-to-detect disorders. Furthermore, this study highlights the basis of the personalized medicine, namely detection of at-risk individuals by revealing some genetic variants aspredictive risk factors, and initial prevention of DCM

Next generation sequencing, cardiomyopathy, genetic variants