Abstract

Introduction: Alcohol-related cardiomyopathy is characterized by cardiac dysfunction and dilatation due to prolonged and excessive alcohol (ETOH) consumption. This study aims to determine the prevalence, use patterns and genetic associations of ETOH exposure in patient with dilated cardiomyopathy (DCM) and their first-degree relatives (FDR). Hypothesis: 1. There is increased prevalence of EOTH use among patients who develop DCM. 2. Non-genetic co-morbidities are more common in patients who use ETOH and developed DCM. 3. Probands and FDR who use ETOH and develop DCM are more likely to have genetic variants. Methods: We analyzed clinical and genetic data on individuals aged 18 and older enrolled in the US DCM Precision Medicine Study. Partial and full DCM phenotypic expression were included in the analysis. The AUDIT-C score was used to evaluate the intensity of ETOH use. ETOH use and presence of DCM-related rare genetic variants were examined in FDRs using GEE type logistic mixed models adjusted for intra-family correlation and site heterogeneity. Results: A total of 2,595 subjects (1,188 probands and 1,407 FDRs) were included. Prior and current ETOH users were 270 (23%) and 546 (46%) for probands, and 30 (10%) and 168 (54%) for FDRs with DCM/partial DCM. Avg. years of drinking were 25.2 for probands and 24.0 for FDRs with DCM/partial DCM; the percent with AUDIT-C positive scores were 31.5 for probands and 32.7 for FDRs with DCM/partial DCM. In probands, moderate or high/severe ETOH use was more likely to be in men, white, Hispanic and those with </=12 yrs. of education (p<0.001). Patients drinking heavily were more likely to have hypertension, diabetes, hypercholesterolemia, and history of arrhythmia/conduction disease. Among FDRs, DCM/partial DCM was associated with the presence of DCM-related variants but not with moderate-severe drinking years in quartile after controlling for demographics and comorbidities. ETOH use did not modify the genetic effect on DCM/partial DCM. Conclusions: There is a high prevalence of prior or current ETOH use among probands and FDRs with DCM/partial DCM with an average ETOH use between 24-25 yrs. ETOH use was not found to associate with DCM or to modify the association between the presence of genetic variants and development of DCM.

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