Genet Med 2022 Apr 18. Epub 2022 Apr 18.
Division of Human Genetics, Department of Internal Medicine, College of Medicine, The Ohio State University, Columbus, OH; Division of Cardiovascular Medicine, Department of Internal Medicine, College of Medicine, The Ohio State University, Columbus, OH. Electronic address:
Purpose: The cardiac phenotype of hereditary transthyretin amyloidosis (hTTR) usually presents as a restrictive or hypertrophic cardiomyopathy, and, although rarely observed as dilated cardiomyopathy (DCM), TTR is routinely included in DCM genetic testing panels. However, the prevalence and phenotypes of TTR variants in patients with DCM have not been reported.
Methods: Exome sequences of 729 probands with idiopathic DCM were analyzed for TTR and 35 DCM genes. Read More