NYMC Faculty Publications

Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives

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

Author Type(s)

Faculty

DOI

10.1016/j.jacc.2023.03.419

Journal Title

Journal of the American College of Cardiology

First Page

2059

Last Page

2071

Document Type

Article

Publication Date

5-30-2023

Department

Medicine

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.

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