NYMC Faculty Publications

Prevalence and Cumulative Risk of Familial Idiopathic Dilated Cardiomyopathy

Authors

Gordon S. Huggins, Cardiology Division, Tufts Medical Center and Tufts University School of Medicine, Boston, Massachusetts.
Daniel D. Kinnamon, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus.
Garrie J. Haas, The Davis Heart and Lung Research Institute, The Ohio State University, Columbus.
Elizabeth Jordan, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus.
Mark Hofmeyer, Medstar Research Institute, Washington Hospital Center, Washington, DC.
Evan Kransdorf, Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Gregory A. Ewald, Washington University in St Louis, St Louis, Missouri.
Alanna A. Morris, Emory University School of Medicine, Atlanta, Georgia.
Anjali Owens, Center for Inherited Cardiovascular Disease, Division of Cardiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Brian Lowes, University of Nebraska Medical Center, Omaha.
Douglas Stoller, University of Nebraska Medical Center, Omaha.
W H. Tang, Cleveland Clinic, Cleveland, Ohio.
Sonia Garg, University of Texas Southwestern Medical Center, Dallas.
Barry H. Trachtenberg, Houston Methodist DeBakey Heart and Vascular Center, J.C. Walter Jr. Transplant Center, Houston, Texas.
Palak Shah, Inova Heart and Vascular Institute, Falls Church, Virginia.
Salpy V. Pamboukian, University of Alabama, Birmingham.
Nancy K. Sweitzer, Sarver Heart Center, University of Arizona, Tucson.
Matthew T. Wheeler, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California.
Jane E. Wilcox, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Stuart Katz, New York University Langone Medical Center, New York.
Stephen Pan, Department of Cardiology, Westchester Medical Center and New York Medical College, Valhalla.
Javier Jimenez, Miami Cardiac & Vascular Institute, Baptist Health South, Miami, Florida.
Keith D. Aaronson, University of Michigan Medical Center, Ann Arbor.
Daniel P. Fishbein, University of Washington, Seattle.
Frank Smart, Louisiana State University Health Sciences Center, New Orleans.
Jessica Wang, University of California Los Angeles Medical Center, Los Angeles.
Stephen S. Gottlieb, University of Maryland School of Medicine, Baltimore.
Daniel P. Judge, Medical University of South Carolina, Charleston.
Charles K. Moore, University of Mississippi Medical Center, Jackson.
Jonathan O. Mead, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus.
Hanyu Ni, Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus.
Wylie Burke

Author Type(s)

Faculty

Award

Research Article Published in Journal with Highest Impact Factor for All Authors

DOI

10.1001/jama.2021.24674

Journal Title

JAMA

First Page

454

Last Page

463

Document Type

Article

Publication Date

2-1-2022

Department

Medicine

Abstract

IMPORTANCE: Idiopathic dilated cardiomyopathy (DCM) aggregates in families, and early detection in at-risk family members can provide opportunity to initiate treatment prior to late-phase disease. Most studies have included only White patients, yet Black patients with DCM have higher risk of heart failure-related hospitalization and death. OBJECTIVE: To estimate the prevalence of familial DCM among DCM probands and the age-specific cumulative risk of DCM in first-degree relatives across race and ethnicity groups. DESIGN, SETTING, AND PARTICIPANTS: A family-based, cross-sectional study conducted by a multisite consortium of 25 US heart failure programs. Participants included patients with DCM (probands), defined as left ventricular systolic dysfunction and left ventricular enlargement after excluding usual clinical causes, and their first-degree relatives. Enrollment commenced June 7, 2016; proband and family member enrollment concluded March 15, 2020, and April 1, 2021, respectively. EXPOSURES: The presence of DCM in a proband. MAIN OUTCOMES AND MEASURES: Familial DCM defined by DCM in at least 1 first-degree relative; expanded familial DCM defined by the presence of DCM or either left ventricular enlargement or left ventricular systolic dysfunction without known cause in at least 1 first-degree relative. RESULTS: The study enrolled 1220 probands (median age, 52.8 years [IQR, 42.4-61.8]; 43.8% female; 43.1% Black and 8.3% Hispanic) and screened 1693 first-degree relatives for DCM. A median of 28% (IQR, 0%-60%) of living first-degree relatives were screened per family. The crude prevalence of familial DCM among probands was 11.6% overall. The model-based estimate of the prevalence of familial DCM among probands at a typical US advanced heart failure program if all living first-degree relatives were screened was 29.7% (95% CI, 23.5% to 36.0%) overall. The estimated prevalence of familial DCM was higher in Black probands than in White probands (difference, 11.3% [95% CI, 1.9% to 20.8%]) but did not differ significantly between Hispanic probands and non-Hispanic probands (difference, -1.4% [95% CI, -15.9% to 13.1%]). The estimated prevalence of expanded familial DCM was 56.9% (95% CI, 50.8% to 63.0%) overall. Based on age-specific disease status at enrollment, estimated cumulative risks in first-degree relatives at a typical US advanced heart failure program reached 19% (95% CI, 13% to 24%) by age 80 years for DCM and 33% (95% CI, 27% to 40%) for expanded DCM inclusive of partial phenotypes. The DCM hazard was higher in first-degree relatives of non-Hispanic Black probands than non-Hispanic White probands (hazard ratio, 1.89 [95% CI, 1.26 to 2.83]). CONCLUSIONS AND RELEVANCE: In a US cross-sectional study, there was substantial estimated prevalence of familial DCM among probands and modeled cumulative risk of DCM among their first-degree relatives. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT03037632.

Share

COinS