부산대학교 도서관

Introduction and objectives: Non-compaction cardiomyopathy (NCC) has been shown to have genetic grounds in a significant number of cases. We aimed to determine the proportion of pathologic findings from a familial screening program among relatives of NCC patients.Methods: Relatives from 61 NCC patients were contacted to offer an echocardiographic evaluation as part of a screening program set at a reference-hospital echo lab. Genetic study was performed.Results: 309 relatives of 47 NCC patients responded and underwent transthoracic echocardiography. Mean age was 37 (SD 19) years. 46.6% of relatives were men. An average 6.6 individuals per family were studied. 26 people had a known familial history of NCC. In 12 of the screened people a familial history of sudden death was taken. 57 (18.4%) individuals were found to have any abnormalities. 21 (34.4%) fulfilled criteria of NCC. 31 (50.8%) had left systolic ventricular dysfunction (8 of them had LVEF below 35%). Left ventricle dilatation and left ventricle parietal hypertrophy were found in 18 (31.6%) and 6 (10.5%) people, respectively. Screened people had not sought clinical advice before, but 20 (35.1%) complained of exercise dyspnoea, and an history of syncope was present in 5 (8.8%) people. Atrial fibrillation was de novo diagnosed in 5 people. Pharmacologic medical therapy was started in 27 (47.4%) individuals. One screened relative received an implantable cardioverter defibrillator as primary prevention therapy. In 10 out the 47 studied families (21.3%) a causative gene defect had been identified. Genetic testing allowed to rule out the genetic defect in 89 of the relatives and to identfy 36 mutation carriers (22 of them showed any trait suggesting cardiomyopathy; 14 had a normal phenotipe).Conclusions: Echocardiographic familial screening of NCC relatives has a clinically significant yield, with changes in clinical management and instauration of treatment. Data from other centres and different clinical settings would be valuable to confirm our findings and clarify clinical management of NCC relatives.