Abstract
Pediatric inherited cardiomyopathies (CMPs) and channelopathies (CNPs) remain important causes of death in this population, therefore, there is a need for prompt diagnosis and tailored treatment. Conventional evaluation fails to establish the diagnosis of pediatric CMPs and CNPs in a significant proportion, prompting further, more complex testing to make a diagnosis that could influence the implementation of lifesaving strategies. Genetic testing in CMPs and CNPs may help unveil the underlying cause, but needs to be carried out with caution given the lack of uniform recommendations in guidelines about the precise time to start the genetic evaluation or the type of targeted testing or whole-genome sequencing. A very diverse etiology and the scarce number of randomized studies of pediatric CMPs and CNPs make genetic testing of these maladies far more particular than their adult counterpart. The genetic diagnosis is even more puzzling if the psychological impact point of view is taken into account. This review aims to put together different perspectives, state-of-the art recommendations—synthetizing the major indications from European and American guidelines—and psychosocial outlooks to construct a comprehensive genetic assessment of pediatric CMPs and CNPs.
Highlights
Inherited cardiomyopathies (CMPs) and channelopathies (CNPs) are cardiac disorders with a very heterogenic presentation and evolution from asymptomatic gene carriers to heart failure development, malignant arrhythmias or sudden cardiac disease (SCD)
This review aims to put together different perspectives, state-of-the art recommendations—synthetizing the major indications from European and American guidelines—and psychosocial outlooks to construct a comprehensive genetic assessment of pediatric CMPs and CNPs
Schwartz et al [4] recommend the initiation of beta-blocker therapy only in children 470 ms and a follow-up to the age of 1 year when the treatment is re-evaluated and genetic testing is considered, as 40–50% of infants will revert to normal QTc after one year old and genetic testing of individuals with QTc > 470 ms will be negative in 90% of cases
Summary
Inherited cardiomyopathies (CMPs) and channelopathies (CNPs) are cardiac disorders with a very heterogenic presentation and evolution from asymptomatic gene carriers to heart failure development, malignant arrhythmias or sudden cardiac disease (SCD). Following a complex continuum from genetic mutations to clinical manifestations [1], CMPs and CNPs can be early detected with the implementation of lifesaving strategies when genetic testing is performed. For better management for these patients, etiology-specific treatment is needed, based mainly on a comprehensive evaluation, including genetic analysis, as this increases the accuracy of the etiological diagnosis, with consequences for treatment, evolution and family genetic counselling. The age to start the genetic testing in asymptomatic family members depends largely on the disease. For diseases such as long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT), where there are clear strategies to implement able to prevent SCD, mutation-specific genetic testing is highly advisable and should be performed independent of age. The present review aims to show two different perspectives of genetic diagnosis in the pediatric population with CMPs and CNPs, including state-of-the art guideline recommendations and the point of view of the family
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