Genetic profile and genotype-phenotype correlations in hypertrophic cardiomyopathy presenting during childhood - 03/09/22
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Résumé |
Introduction |
Genetic cardiomyopathy (CM) is a rare disease in childhood. Risk factors for outcomes remain poorly described.
Objective |
Our study aimed to analyse clinical and genetical aspects in a pediatric hypertrophic cardiomyopathy (HMC) population and to establish genotype-phenotype correlations.
Methods |
A retrospective study of all patients with ‘idiopathic’ HCM diagnosed in southeast France, before the age of 18 years was performed. All data (clinic, echocardiography, genetic testing) were retrospectively collected. Patients who did not have complete genetic testing according to current scientific development had another DNA blood sample during the study to complete the testing. Genetic tests were considered positive if the variant found was classified as pathogenic, likely pathogenic or variant of uncertain significance.
Results |
Thirty-three patients were diagnosed with ‘idiopathic’ HCM. Median age at diagnosis was 6.8 years old [0.3–12.1]. Genetic testing was positive in 21 cases (63.6%). Patients with an identified mutation had more visceral impact (38% vs. 8%, P=0.009), a higher rate of implantable cardiac defibrillator (24% vs. none, P=0.025) and more frequent heart transplant (19% vs. none, P=0.025).
Conclusion |
In our population with paediatric HCM, a positive genetic testing is associated with a worse clinical course. Those data have to be corroborated with larger-scale studies.
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Vol 14 - N° 3-4
P. 227 - septembre 2022 Retour au numéro
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