Rare variant genetics and dilated cardiomyopathy severity: The DCM Precision Medicine Study

Jan 1, 2023·
MD Ray E. Hershberger
,
MD Mauro Giacca
,
MD Mark Hofmeyer
,
MD Garrie J. Haas
,
MS Elizabeth Jordan
,
MS Jinwen Cao
,
MD Evan Kransdorf
,
PhD Gregory A. Ewald
,
MD Alanna A. Morris
,
MSc Anjali Owens Md
,
M. Lowes
,
P. Stoller
,
P. W. Tang
,
Mamta Garg
,
Marija Trachtenberg
,
M. Shah
,
Michael Sweitzer
,
P. M. Wheeler
,
Priya Md
,
M. S. Katz
,
M. Pan
,
M. Md
,
Pippa Smart
,
MD Jessica Wang
,
M. Gottlieb
,
M. Judge
,
M. K. Moore
,
M. Huggins
,
M. D. D. Kinnamon
,
P. Ni
· 0 min read
Abstract
BACKGROUND: Dilated cardiomyopathy (DCM) can lead to advanced disease, defined herein as necessitating a durable left ventricular assist device or a heart transplant (LVAD/HT). DCM is known to have a genetic basis, but the association of rare variant genetics with advanced DCM has not been studied. METHODS: We analyzed clinical and genetic sequence data from patients enrolled between 2016 and 2021 in the US multisite DCM Precision Medicine Study, which was a geographically diverse, multiracial, multiethnic cohort. Clinical evaluation included standardized patient interview and medical record q…
Type
Publication
Circulation