TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study.

ABSTRACT:

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.

Results

Rare TTR variants were identified in 2 (0.5%; 95% CI = 0.1%-1.8%) of 404 non-Hispanic White DCM probands; neither of them had features of hTTR. In 1 proband, a TTR His110Asn variant and a variant of uncertain significance in DSP were identified, and in the other proband, a TTR Val50Met variant known to cau

SUBMITTER: Trachtenberg BH 

PROVIDER: S-EPMC12925140 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature