Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives
Hanyu NiElizabeth JordanDaniel D. KinnamonJinwen CaoGarrie J. HaasMark HofmeyerE. KransdorfGregory A. EwaldAlanna A. MorrisAnjali OwensBrian D. LowesDouglas StollerW.H. Wilson TangSonia GargBarry TrachtenbergPalak ShahSalpy V. PamboukianNancy K. SweitzerMatthew T. WheelerJane E. WilcoxStuart D. KatzStephen PanJavier JiménezDaniel P. FishbeinFrank W. SmartJessica WangStephen S. GottliebDaniel P. JudgeCharles K. MooreGordon S. HugginsRay E. Hershberger
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Key result
Clinical screening identifies new or partial DCM phenotypes in ~14% of asymptomatic first-degree relatives.
- n=1,365
Why the study?
The yield of screening first-degree relatives of DCM patients was uncertain for those without known familial DCM, non-White relatives, or partial phenotypes like left ventricular enlargement or systolic dysfunction.
Does clinical cardiovascular screening identify previously unknown DCM or DCM partial phenotypes in asymptomatic first-degree relatives of patients with DCM?
Key Points
- To examine the diagnostic yield of clinical cardiovascular screening among reportedly unaffected first-degree relatives of patients with dilated cardiomyopathy.
- Enrolled 1,365 adult first-degree relatives of 735 dilated cardiomyopathy probands across 25 sites.
- Participants underwent clinical screening with echocardiograms and ECGs.
- Mixed models accounting for site heterogeneity and intrafamilial correlation evaluated diagnoses by demographics, clinical risk factors, and proband genetics.
- Screening identified new diagnoses in 14.1% of relatives, comprising dilated cardiomyopathy (2.1%), left ventricular systolic dysfunction (3.6%), and left ventricular enlargement (8.4%).
- Diagnoses did not differ significantly by race and ethnicity (16.2% Hispanic, 15.2% non-Hispanic Black, 13.1% non-Hispanic White) or sex (14.6% women, 12.8% men).
- Age-adjusted diagnoses were higher with hypertension (20.0% vs 11.8%, difference = 8.3%; 95% CI: 3.3%-13.3%) and obesity (18.3% vs 10.5%, difference = 7.8%; 95% CI: 4.4%-11.2%), and when probands carried pathogenic/likely pathogenic variants (3.9% vs 0.6%, difference = 3.5%; 95% CI: 0.1%-6.9%).
Study Design
Type
Cross-Sectional (n=1,365)
Multicenter
Yes
Structured PICO
Does clinical cardiovascular screening identify previously unknown DCM or DCM partial phenotypes in asymptomatic first-degree relatives of patients with DCM?
P
Population
1,365 asymptomatic adult first-degree relatives of patients with dilated cardiomyopathy underwent clinical cardiovascular screening to detect previously unknown DCM or partial phenotypes.
I
Intervention
Clinical cardiovascular screening (cardiovascular-directed history and examination, ECG, and transthoracic echocardiogram)
O
Outcome
Percentage of FDRs with newly identified DCM, left ventricular systolic dysfunction (LVSD) only, or left ventricular enlargement (LVE) onlysurrogate
Clinical cardiovascular screening of asymptomatic first-degree relatives of patients with dilated cardiomyopathy identifies previously unknown DCM or partial phenotypes in approximately 1 in 7 individuals, regardless of race or ethnicity.
Limitations
- Cross-sectional design offers only a single point in time to observe phenotypes.
- Probands were recruited from advanced heart failure programs, which may limit generalizability to primary care settings.
- Cannot demonstrate causal relationships between screen-based DCM and cardiovascular risk factors.
- Only about one-third of eligible first-degree relatives were enrolled, potentially introducing selection bias.
- Some echocardiograms were performed outside the research setting and not centrally reviewed.
- Cross-sectional study design offering only a 1 point in time opportunity to observe phenotypes
- Probands were recruited from advanced heart failure programs, which may introduce referral bias
- Genetic data were available only from probands at the time of publication
Key expert perspectives
Captured external expert commentary on this paper, strongest first. Original sources are linked where available.
“The logic underlying screening recommendations is sound, but evidence from large prospective studies is lacking, particularly with regards the utility of screening across ethnicities and age groups.”
“I believe this study provides some justification for screening FDRs of DCM patients, but raises more questions than it answers.”
“A multi-site study led by researchers at The Ohio State University Wexner Medical Center and College of Medicine shows the importance of clinical screening for dilated cardiomyopathy (DCM) in family members of patients diagnosed with the heart muscle disease.”
Implication
Supports screening yield in asymptomatic DCM relatives; leaves open prospective validation of outcomes.
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.
Discussion
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Cite This Study
Ni et al. (2023) conducted a cross-sectional in Dilated Cardiomyopathy (First-Degree Relatives) (n=1,365). Clinical cardiovascular screening was evaluated on New diagnosis of DCM, left ventricular systolic dysfunction (LVSD), or left ventricular enlargement (LVE). Clinical cardiovascular screening identified new DCM or DCM partial phenotypes in 14.1% of asymptomatic first-degree relatives of patients with dilated cardiomyopathy.
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