Why the study?
The association between genotype variation, phenotype expression, and adverse events in pediatric HCM has not been fully elucidated, with evidence lacking compared to adults.
This review highlights the need for better understanding of genotype-phenotype associations in pediatric hypertrophic cardiomyopathy to improve risk stratification for sudden cardiac death.
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Incomplete genotype-phenotype data limit SCD risk stratification in pediatric HCM; leaves open targeted research to refine associations.
Pediatric hypertrophic cardiomyopathy (HCM) is the most common form of cardiomyopathy in children and a leading cause of sudden cardiac death. Yet, the association between genotype variation, phenotype expression, and adverse events in pediatric HCM has not been fully elucidated. Although the literature on this topic is evolving in adult HCM, the evidence in children is lacking. Solidifying our understanding of this relationship could improve risk stratification as well as improve our comprehension of the underlying pathophysiological characteristics of pediatric HCM. In this state-of-the-art review, we examine the current literature on genetic variations in HCM and their association with outcomes in children, discuss the current approaches to identifying cardiovascular phenotypes in pediatric HCM, and explore possible avenues that could improve sudden cardiac death risk assessment.
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A 2022 study studied this question.
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