Prevalence of Genetically Associated Dilated Cardiomyopathy: A Systematic Literature Review and Meta-Analysis

Dilated cardiomyopathy (DCM) is a leading cause of heart failure and cardiac transplantation globally. Disease-associated genetic variants play a significant role in the development of DCM. Accurately determining the prevalence of genetically associated DCM (genetic DCM) is important for developing targeted prevention strategies. This review synthesized published literature on the global prevalence of genetic DCM across various populations, focusing on two of the most common variants: titin (TTN) and myosin heavy chain 7 (MYH7).

MEDLINE^® and Embase were searched from database inception to September 19, 2022 for English-language studies reporting the prevalence of genetic DCM within any population. Studies using family history as a proxy for genetic DCM were excluded.

Of 2,736 abstracts, 57 studies were included. Among the global adult or mixed (mostly adults with few pediatric patients) DCM population, median prevalence was 20.2% (interquartile range (IQR): 16.3-36.0%) for overall genetic DCM, 11.4% (IQR: 8.2-17.8%) for TTN-associated DCM, and 3.2% (IQR: 1.8-5.2%) for MYH7-associated DCM. Global prevalence of overall pediatric genetic DCM within the DCM population was similar (weighted mean: 21.3%). Few studies reported data on the prevalence of genetic DCM within the general population.

Our study identified variable prevalence estimates of genetic DCM across different populations and geographic locations. The current evidence may underestimate the genetic contributions due to limited screening and detection of potential DCM patients. Epidemiological studies using long-read whole genome sequencing to identify structural variants or non-coding variants are needed, as well as large cohort datasets with genotype-phenotype correlation analyses.