Hidden familial cardiomyopathies in children: Role of genetic testing

https://doi.org/10.1016/j.ijcard.2021.08.014Get rights and content

Highlights

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    Genetics can help to make the diagnosis in hidden Cardiomyopathies and to identify the risk stratification in relatives.

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    Genetics results can influence the clinical treatment, the life style decisions and the prenatal counselling.

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    Genetics can be valuable to optimize chemotherapy and cardioprotective therapy in oncological patients at high risk for DCM.

Abstract

Pediatric cardiomyopathies harbour significant phenotypic and genetic heterogeneity. Genetic testing is essential for the initial evaluation and the ongoing care of child and family, although challenges remain regarding its appropriate clinical implementation in minors. We here discuss the key role of genetic diagnosis in the clinical management of two patients.

Section snippets

Case 1

A 2-year-old male child was referred for cardiologic evaluation due to a systolic murmur. He was affected from birth by a mild form of osteogenesis imperfecta (OI) (MIM#120150), an autosomal syndromic disease. OI is characterized by bone fractures during childhood and adolescence (less in adulthood) that often result from minor trauma, such as falling while learning to walk. Both the father and the paternal grandmother were mildly affected.

Genetic testing for OI, performed in the newborn at

Take home message

The two scenarios described, demonstrate the key role of genetic screening and counselling in the clinical management toward a personalized and interdisciplinary approach to familial CMs. Case 1 illustrates the rare coexistence of two independent monogenic diseases namely OI and HCM in the same family and case 2 demonstrates how anthracycline treatment may have represented a “second-hit” unmasking and accelerating a genetic propensity to develop DCM (10), which was also evident in family

Disclosure

None.

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Cited by (0)

1

Francesca Girolami and Valentina Spinelli contributed equally to this work.

2

This author takes responsibility for all aspects of the reliability and freedom from bias of the data presented and their discussed interpretation.

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