Key result
Clinical and genetic cascade screening for HCM is recommended in all first-degree pediatric relatives regardless of age.
Why the study?
Recent paradigm shifts recognize that phenotypic HCM can manifest in young children and may not be benign, altering the role of clinical screening and predictive genetic testing.
This review supports the paradigm shift toward early clinical and genetic screening for pediatric first-degree relatives of patients with hypertrophic cardiomyopathy, aligning with recent AHA/ACC guidelines.
Answers are grounded in this paper and cite their sources.
Supports guideline-aligned cascade screening for pediatric HCM relatives; leaves open need for prospective outcome data.
Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality in children. While the aetiology is heterogeneous, most cases are caused by variants in the genes encoding components of the cardiac sarcomere, which are inherited as an autosomal dominant trait. In recent years, there has been a paradigm shift in the role of clinical screening and predictive genetic testing in children with a first-degree relative with HCM, with the recognition that phenotypic expression can, and often does, manifest in young children and that familial disease in the paediatric age group may not be benign. The care of the child and family affected by HCM relies on a multidisciplinary team, with a key role for genomics. This review article summarises current evidence in clinical and genetic screening for hypertrophic cardiomyopathy in paediatric relatives and highlights aspects that remain to be resolved.
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Lawley et al. (2023) conducted a review in Hypertrophic cardiomyopathy. Clinical and genetic screening was evaluated. Clinical and genetic cascade screening should be offered to all children with a first-degree relative with hypertrophic cardiomyopathy, regardless of their age.
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