Genetic Testing in Pediatric Cardiomyopathy

Ellepola, Chalani D.; Knight, Linda; Fischbach, Peter S.; Deshpande, Shriprasad

doi:10.1007/s00246-017-1779-2

Cited by 27 publications

(24 citation statements)

References 14 publications

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“…Previously, Belkaya et al found a significant proportion of children with myocarditis were carriers for rare genetic variants in cardiac-related genes, supporting this idea of genetic mutations increasing an individual's susceptibility to myocarditis. 7 It should be noted that Belkaya et al's yield (12%) and the 40-50% yield identified in other studies of non-ischemic cardiomyopathy 10,11 were lower than our yield of 62.5% for nonsyndromic forms. This discrepancy may be due to a variety of factors including sample size and study design.…”

Section: Discussioncontrasting

confidence: 74%

Genetic aetiologies should be considered in paediatric cases of acute heart failure presumed to be myocarditis

et al. 2019

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There are a variety of causes of acute heart failure in children including myocarditis, genetic/metabolic conditions, and congenital heart defects. In cases with a structurally normal heart and a negative personal and family history, myocarditis is often presumed to be the cause, but we hypothesise that genetic disorders contribute to a significant portion of these cases. We reviewed our cases of children who presented with acute heart failure and underwent genetic testing from 2008 to 2017. Eighty-seven percent of these individuals were found to have either a genetic syndrome or pathogenic or likely pathogenic variant in a cardiac-related gene. None of these individuals had a personal or family history of cardiomyopathy that was suggestive of a genetic aetiology prior to presentation. All of these individuals either passed away or were listed for cardiac transplantation indicating genetic testing may provide important information regarding prognosis in addition to providing information critical to assessment of family members.

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Section: Discussioncontrasting

confidence: 74%

Genetic aetiologies should be considered in paediatric cases of acute heart failure presumed to be myocarditis

et al. 2019

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“…Of note, outcome was not specified for the 56 DCM patients. 38 In our study, which reports on the largest cohort of genetically tested children with DCM to date, we also observed decreased survival in children with a LP/P genetic variant. Our study is thus an important contribution to the mounting evidence that carrying a LP/P variant puts children at an increased risk of death or HTx.…”

Section: Yield Of Genetic Testing In Children With Dcmsupporting

confidence: 61%

Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification

Meulen¹,

Herkert

Boer³

et al. 2022

Circ: Genomic and Precision Medicine

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Background: This study aimed to describe the current practice and results of genetic evaluation in Dutch children with dilated cardiomyopathy and to evaluate genotype-phenotype correlations that may guide prognosis. Methods: We performed a multicenter observational study in children diagnosed with dilated cardiomyopathy, from 2010 to 2017. Results: One hundred forty-four children were included. Initial diagnostic categories were idiopathic dilated cardiomyopathy in 67 children (47%), myocarditis in 23 (16%), neuromuscular in 7 (5%), familial in 18 (13%), inborn error of metabolism in 4 (3%), malformation syndrome in 2 (1%), and “other” in 23 (16%). Median follow-up time was 2.1 years [IQR 1.0–4.3]. Hundred-seven patients (74%) underwent genetic testing. We found a likely pathogenic or pathogenic variant in 38 children (36%), most often in MYH7 (n = 8). In 1 patient initially diagnosed with myocarditis, a pathogenic LMNA variant was found. During the study, 39 patients (27%) reached study endpoint (SE: all-cause death or heart transplantation). Patients with a likely pathogenic or pathogenic variant were more likely to reach SE compared with those without (hazard ratio 2.8; 95% CI 1.3–5.8, P = 0.007), while transplant-free survival was significantly lower ( P = 0.006). Clinical characteristics at diagnosis did not differ between the 2 groups. Conclusions: Genetic testing is a valuable tool for predicting prognosis in children with dilated cardiomyopathy, with carriers of a likely pathogenic or pathogenic variant having a worse prognosis overall. Genetic testing should be incorporated in clinical work-up of all children with dilated cardiomyopathy regardless of presumed disease pathogenesis.

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“…19 Thus, understanding of the genetic causes of primary and idiopathic cardiomyopathy presenting in childhood is still extremely limited and based on studies typically with less than 150 participants. The lack of larger pediatric studies may explain why there is marked practice variation [20][21][22][23][24][25][26] despite guidelines that recommend genetic testing in children with cardiomyopathy. 12 The expected genetic heterogeneity and the number of private (or infrequent) variants in pediatric cardiomyopathy present an additional challenge to defining genetic architecture.…”

Section: Introductionmentioning

confidence: 99%