Hypertrophic cardiomyopathy in children is a heterogeneous condition primarily caused by sarcomere protein gene mutations, necessitating routine clinical evaluation and screening of family members.
HCM in the pediatric population is etiologically diverse, requiring tailored diagnostic approaches and routine family screening.
Hypertrophic cardiomyopathy (HCM) is the second commonest form of heart muscle disease affecting children and adolescents and is a leading cause of sudden death in young athletes. The aetiology of HCM is heterogeneous in the paediatric population, and includes inborn errors of metabolism, neuromuscular disorders and malformation syndromes. However, most cases of apparently idiopathic HCM in childhood are caused by mutations in cardiac sarcomere protein genes. Patients with metabolic or syndromic HCM usually present in infancy or early childhood, whereas those with neuromuscular disorders are more frequently diagnosed in adolescence. The diagnosis of HCM in infants is often made during evaluation for a heart murmur or congestive heart failure. Older children are usually referred for evaluation of symptoms, electrocardiographic abnormalities or heart murmur, or for family screening following the diagnosis of HCM in a relative. Risk stratification in the paediatric population remains a challenge. As most cases of HCM are familial, evaluation of first-degree relatives and other family members at risk of inheriting the disease should be a routine component of clinical management.
Moak et al. (Wed,) conducted a review in Hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy in children is a heterogeneous condition primarily caused by sarcomere protein gene mutations, necessitating routine clinical evaluation and screening of family members.
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