Study Status: Completed
Recruit Status: Unknown status
Study Type: Observational [Patient Registry]
Official Title: Clinical and Genetic Examinations of Dilated Cardiomyopathy
Brief Summary:
This study is a descriptive study to investigate clinical and genetic features of dilated cardiomyopathy (DCM) patients and their relatives. 140 patients 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, 70 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 140 index patients both clinically with advanced echocardiography including 3D volume measurements and speckle-tracking (GLS) and genetically if a disease related mutation was found in the index patient. Approximately 480 clinical examinations will be performed this way to be able to:
1a. Investigate the frequency of familial types of DCM
1b. To evaluate the genetic examinations properties to identify familial types of DCM
2. To compare the genetic courses of DCM in the group of transplanted patients to the group of non transplanted patients, including the association between genotype and phenotype in affected DCM families.
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.