Clinical and Genetic Examinations of Dilated Cardiomyopathy

This study is a descriptive study to investigate clinical and genetic features of dilated cardiomyopathy (DCM) patients and their relatives. 109 probands with DCM have been clinically characterized with clinical examinations including ECG and echocardiography, and furthermore they have had next generation sequencing (NGS) of 42 known DCM genes, and 34 candidate genes. The probands were consequtively included in the study and 59 had undergone heart transplantation (HTx) upon inclusion. of these patients underwent heart transplantation. The data from NGS is validated by Sanger sequencing. In this study we will examine the relatives to the 109 index patients by genetic and clinical cascade screening including advanced echocardiography including 3D volume measurements and speckle-tracking (GLS). Genetic investigations of relatives will be performed if a disease-associated mutation is identifed in the proband. Approximately 480 clinical examinations will be performed this way to be able to: 1a. Investigate the frequency of familial types of DCM 1b. To investigate the yield of genetic and clinical cascade screening 2\. To describe genotype phenotype correlations 3\. To investigate if there are subtle changes in the heart in genopositive individuals which do not meet the conventional diagnostic criteria evaluated by advanced echocardiography.