학술논문
Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives.
Document Type
article
Author
Ni, Hanyu; Jordan, Elizabeth; Kinnamon, Daniel; Cao, Jinwen; Haas, Garrie; Hofmeyer, Mark; Kransdorf, Evan; Ewald, Gregory; Morris, Alanna; Owens, Anjali; Lowes, Brian; Stoller, Douglas; Tang, W; Garg, Sonia; Trachtenberg, Barry; Shah, Palak; Pamboukian, Salpy; Sweitzer, Nancy; Wheeler, Matthew; Wilcox, Jane; Katz, Stuart; Pan, Stephen; Jimenez, Javier; Fishbein, Daniel; Smart, Frank; Gottlieb, Stephen; Judge, Daniel; Moore, Charles; Huggins, Gordon; Hershberger, Ray; Wang, Jessica
Source
Journal of the American College of Cardiology. 81(21)
Subject
Language
Abstract
BACKGROUND: Cardiovascular screening is recommended for first-degree relatives (FDRs) of patients with dilated cardiomyopathy (DCM), but the yield of FDR screening is uncertain for DCM patients without known familial DCM, for non-White FDRs, or for DCM partial phenotypes of left ventricular enlargement (LVE) or left ventricular systolic dysfunction (LVSD). OBJECTIVES: This study examined the yield of clinical screening among reportedly unaffected FDRs of DCM patients. METHODS: Adult FDRs of DCM patients at 25 sites completed screening echocardiograms and ECGs. Mixed models accounting for site heterogeneity and intrafamilial correlation were used to compare screen-based percentages of DCM, LVSD, or LVE by FDR demographics, cardiovascular risk factors, and proband genetics results. RESULTS: A total of 1,365 FDRs were included, with a mean age of 44.8 ± 16.9 years, 27.5% non-Hispanic Black, 9.8% Hispanic, and 61.7% women. Among screened FDRs, 14.1% had new diagnoses of DCM (2.1%), LVSD (3.6%), or LVE (8.4%). The percentage of FDRs with new diagnoses was higher for those aged 45 to 64 years than 18 to 44 years. The age-adjusted percentage of any finding was higher among FDRs with hypertension and obesity but did not differ statistically by race and ethnicity (16.2% for Hispanic, 15.2% for non-Hispanic Black, and 13.1% for non-Hispanic White) or sex (14.6% for women and 12.8% for men). FDRs whose probands carried clinically reportable variants were more likely to be identified with DCM. CONCLUSIONS: Cardiovascular screening identified new DCM-related findings among 1 in 7 reportedly unaffected FDRs regardless of race and ethnicity, underscoring the value of clinical screening in all FDRs.