Alcohol Exposure Among Patients With Dilated Cardiomyopathy and Their First-Degree Relatives: The DCM Precision...

Area of Science:

• Cardiology
• Genetics
• Toxicology

Background:

• The link between excessive alcohol consumption and dilated cardiomyopathy (DCM) is not fully understood.
• Alcohol use is common in patients with DCM and their families.

Purpose of the Study:

• To determine the prevalence of alcohol use in DCM patients and first-degree relatives (FDRs).
• To investigate if cumulative alcohol exposure is associated with DCM or partial DCM.
• To examine if alcohol consumption modifies the relationship between DCM and rare genetic variants.

Main Methods:

• Assessed alcohol exposure using the Alcohol Use Disorder Identification Test-Consumption (AUDIT-C) and years of drinking.
• Classified rare variants in 36 DCM genes as pathogenic, likely pathogenic, or variant of uncertain significance.
• Employed generalized linear mixed models to analyze associations in FDRs.

Main Results:

• DCM or partial DCM was identified in 21.8% of 1373 FDRs.
• Alcohol use was prevalent (68% probands, 70% FDRs), with 30-37% scoring positive on the AUDIT-C.
• DCM/partial DCM in FDRs was associated with pathogenic/likely pathogenic variants (OR 3.51) but not alcohol exposure.

Conclusions:

• Alcohol use is frequent in individuals with DCM and their relatives.
• No evidence supports a direct association between cumulative alcohol exposure and DCM/partial DCM.
• Alcohol consumption did not appear to modify the link between DCM and relevant genetic variants.