부산대학교 도서관

Introduction:Guidelines recommend family screening in dilated cardiomyopathy (DCM) to uncover pre-symptomatic familial DCM (FDC). So far, no guidelines provide specific recommendations on the intensity and frequency of follow-up screening. This study sought to provide the first detailed estimates of the incidence of FDC during follow-up and identify baseline markers which could inform future follow-up of relatives.Methods:The study was a retrospective, observational, longitudinal cohort study of relatives to DCM probands screened at a regional assembly of family screening clinics in Copenhagen, Denmark, from 2006 to 2020.Results:In total, 563 relatives (50% women) from 211 families were included. At baseline, 124 relatives (22%) were diagnosed with FDC: 97 (18%) as a result of screening and 27 (5%) with symptom-onset prior to screening. Genetic sequencing identified the etiology of DCM in 35% of families and classified 90 relatives (17%) as unaffected carriers (n=44) or relatives not at risk of FDC (n=46). As such, the combined clinical and genetic baseline-yield was 31%. In 439 relatives considered unaffected at baseline, 45 (10%) were diagnosed with FDC during follow-up (median 5.0 years). The age-standardized incidence rate of FDC was 2.0% per person-year [CI: 1.4-2.8%] with higher rates in men vs women (3.0% vs 1.4% per person-year). In relatives without predictive genetic findings (n=349), non-diagnostic abnormal baseline-findings on ECG or echocardiography was associated with a higher incidence rate of FDC (figure A), while the risk was low in relatives with normal findings (0.4% vs 4.7% per person-year; figure B).Conclusion:Systematic family screening identified FDC or genetic predisposition to FDC in 1 out of 3 relatives at baseline. Relatives without predictive genetic findings and with normal findings on ECG and echocardiography at baseline had a low risk of developing FDC. Follow-up can be limited and may not be warranted in these relatives.