Inherited cardiovascular diseases are highly heterogeneous conditions with multiple genetic loci involved. The application of advanced molecular tools, such as Next Generation Sequencing, has facilitated the genetic analysis of these disorders. Accurate analysis and variant identification are required to maximize the quality of the sequencing data.
View Article and Find Full Text PDFHypertrophic cardiomyopathy (HCM) represents the most common genetically inherited cardiovascular disorder and a leading cause of heart failure and sudden cardiac death. Atrial fibrillation (AF) is the most common arrhythmia encountered in HCM patients, primarily due to the process of left atrium dilatation and remodeling. Its presence typically leads to progressive functional decline, increased frequency of heart failure hospitalizations, and increased thromboembolic risk.
View Article and Find Full Text PDFLeft ventricular enlargement and dysfunction are fundamental components of dilated cardiomyopathy (DCM). DCM is a major cause of heart failure and cardiac transplantation. A wide variety of etiologies underlie acquired and familial DCM.
View Article and Find Full Text PDFAims: To determine the incidence and the causes of sudden death (SD) in persons aged 1-35 years old and the diagnostic yield of clinically guided genetic screening in the sudden arrhythmic death syndrome (SADS) victims' families.
Methods And Results: Incidence and causes of SD in the Attica region of Greece in 2002-10 were determined using death certificates and autopsy reports. We evaluated clinically consecutive families of SADS victims and if a clinical diagnosis was established, we proceeded to targeted genetic analysis.