Study finds higher risk in families of Black patients with inherited
heart muscle disease

Date:
February 1, 2022
Source:
Ohio State University Wexner Medical Center
Summary:
Black patients diagnosed with dilated cardiomyopathy (DCM) of
unknown cause are more likely to have family members at risk of
developing the heart muscle disease than families of white patients,
according to results of a multi-site study.



FULL STORY ========================================================================== Black patients diagnosed with dilated cardiomyopathy (DCM) of unknown
cause are more likely to have family members at risk of developing
the heart muscle disease than families of white patients, according
to results of a multi-site study led by researchers at The Ohio State University Wexner Medical Center and College of Medicine.


========================================================================== Researchers studied the prevalence and risk of familial DCM in Black
and white patients and their family members, noting most studies have
included only whites even though Blacks with DCM have a higher risk of
heart failure-related hospitalization and death. Researchers believe
most of idiopathic, or unknown cause, DCM has a genetic basis.

Using mathematical modeling techniques, researchers estimated that 30%
of patients with DCM seen at a typical advanced heart failure program
in the U.S.

had at least one first-degree family member (child, sibling or parent)
with DCM. When broken down by self-identified race, an estimated 39% of
Black patients and 28% of white patients had at least one first-degree
family member with DCM. The study was published today in the Journal of
the American Medical Association.

"Integrating Black families into this DCM study was critically important because most information has only been available for white patients. Our
study shows that families of Black patients are at greater risk for
DCM than those of white patients. We don't yet understand all of the
reasons for this. It could be from differences in genetics, comorbidities
or social determinants of health. This analysis, which only included
clinical information, was unable to clarify that, but the genetic analysis being completed now will soon be available," said Dr. Ray Hershberger,
a cardiologist and division director of human genetics at the Ohio State
Wexner Medical Center and a researcher at the Dorothy M. Davis Heart
and Lung Research Institute. Hershberger is the senior author of the
study and heads up the DCM Consortium, which is composed of 25 leading
academic U.S. heart failure/heart transplant programs that contributed
to the study.

The five-year study enrolled 1,220 patients with DCM, of which 44% were
women, 43% were Black and 8% were Hispanic, along with 1,693 of their first-degree relatives. DCM is a condition in which the heart muscle
weakens and the left ventricle enlarges. It's the most common cause of
patients needing a heart transplant and responsible for about half of
heart failure cases that result from a weakened left ventricle. Prior information has suggested that 1 in 250 Americans have DCM.

DCM can occur in family members at almost any age but the typical onset
is mid 40s. The severity of the condition can vary within families, with
some family members exhibiting minor symptoms while others may die of
heart failure or an arrhythmia causing sudden cardiac death. Symptoms
include shortness of breath with exertion, fatigue, edema of the legs
and feet, an irregular heartbeat or lethal arrhythmias.

The study estimated that about 1 in 5 first-degree family members of
patients with idiopathic DCM were at risk of getting the condition during
their lifetime.

"DCM can be silent for months to years before symptoms begin. Eventually
heart failure may develop, which is late-phase disease. Since medical
treatment has been shown to mitigate asymptomatic DCM, guidelines have recommended that, with a diagnosis of DCM, the patient's first-degree
family members undergo clinical screening including an echocardiogram
so that early asymptomatic DCM can be found and treatment initiated
before progression to late-phase disease," Hershberger said. "For the
first time, this study gives us hard numbers on how to counsel family
members on their risk of developing DCM, and especially so for family
members of Black patients with DCM." In 2014, Greg Ruf, 57, of Dublin
was diagnosed with DCM and has been raising awareness since then about
the disease that led to him having a heart transplant last July at Ohio
State's Richard M. Ross Heart Hospital. Nine family members have been identified with gene mutations known to cause DCM.

"There's a million plus people in the United States that are dealing
with this and unfortunately many don't know. It's really important to
prevent death in your family or advanced disease by getting tested and
dealing with this thing head on," Ruf said.

The study is the first of a series based on findings by the DCM
Consortium. The study also examined the genetics of patients with DCM,
which will be published later in 2022.

========================================================================== Story Source: Materials provided by Ohio_State_University_Wexner_Medical_Center. Note: Content may be edited
for style and length.


========================================================================== Journal Reference:
1. Gordon S. Huggins, Daniel D. Kinnamon, Garrie J. Haas, Elizabeth
Jordan,
Mark Hofmeyer, Evan Kransdorf, Gregory A. Ewald, Alanna A. Morris,
Anjali Owens, Brian Lowes, Douglas Stoller, W. H. Wilson Tang,
Sonia Garg, Barry H. Trachtenberg, Palak Shah, Salpy V. Pamboukian,
Nancy K. Sweitzer, Matthew T. Wheeler, Jane E. Wilcox, Stuart Katz,
Stephen Pan, Javier Jimenez, Keith D. Aaronson, Daniel P. Fishbein,
Frank Smart, Jessica Wang, Stephen S. Gottlieb, Daniel P. Judge,
Charles K. Moore, Jonathan O.

Mead, Hanyu Ni, Wylie Burke, Ray E. Hershberger. Prevalence and
Cumulative Risk of Familial Idiopathic Dilated Cardiomyopathy. JAMA,
2022; 327 (5): 454 DOI: 10.1001/jama.2021.24674 ==========================================================================

Link to news story: https://www.sciencedaily.com/releases/2022/02/220201144016.htm

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