- 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
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.