Cardiomyopathies in children: classification, diagnosis and treatment

Abstract

Purpose of review Cardiomyopathies are rare in the pediatric population, but significantly impact on morbidity and mortality. The present review aims to provide an overview of cardiomyopathies in children and some practical guidelines for their prognostic stratification and management. Recent findings Pediatric cardiomyopathies may present as isolated cardiac muscle disease or in the context of complex clinical syndromes. The etiologic characterization represents an important step in the diagnosis and treatment of cardiomyopathies because of its impact on prognosis and on therapeutic measures. Indeed, replacement therapy is nowadays widely available and changes the natural history of the disease. More complex is the management of isolated cardiomyopathies, which lack specific therapies, mainly aimed at symptomatic relief. In this context, heart transplantation shows excellent outcomes in children, but wait-list mortality is still very high. Device therapy for sudden cardiac death prevention and the use of mechanical assist devices are becoming more common in the clinical practice and may help to reduce mortality. Summary Providing insight into pediatric cardiomyopathies classification helps in the prognostication and management of such diseases. Recent years witnessed a significant improvement in mortality, but future research is still needed to improve quality of life and life expectations in the pediatric population.

Non-Compacted Cardiomyopathy in Children and Adolescents: From the Challenge of Echocardiographic Diagnosis to Clinical Follow-Up

“…Corroborating the literature, the case series studied shows pediatric NCM heterogeneity from clinical presentation to diagnosis ranging from asymptomatic patients to ventricular arrhythmia and HF or in the context of genetic syndrome investigation 1,3,4,[13][14][15] . HF is the most common clinical presentation of NCM 1-4, 14,16,17 , so the recognition of the several HF signs and symptoms in children essential to its diagnosis 18 .…”

“…A case report by Redondo et al described an important improvement in refractory HF after use of the phosphodiesterase-5 inhibitor (sildenafil) in a six-year-old boy 32 . Patients with a mixed phenotype or associated systemic condition should undergo targeted therapy 3,13,28,33 .…”

“…A study by Lofiego et al of a cohort of adult patients demonstrated that disease presentation at diagnosis can determine the prognosis 34 . Asymptomatic patients have a better prognosis than those with HF or VT, even children with an isolated NCM phenotype have better clinical progression 1,3,13,14,16 . This also occurred in this case series, in which patients with mixed phenotypes (NCM/DCM and NCM/RCM) still required HF treatment in addition to presenting complications such as PTE, indication for heart transplantation, and death.…”

Miocardiopatias

“…Embora a MCD tenha uma incidência menor no público infantil comparado ao público adulto, o desfecho em pacientes mais novos tem se mostrado grave, sendo a primeira causa de transplante cardíaco em crianças (LIMONGELLI, 2022). Diante disso, a MCD é a miocardiopatia mais comum na população pediátrica, representando 50% de todas as miocardiopatias, sendo a incidência maior nos 2 primeiros anos de vida e cerca de 25% devido à miocardite aguda (DE ANGELIS, 2020).…”

“…Apesar de raras na população pediátrica, as miocardiopatias possuem elevada morbidade, sendo a principal indicação de transplante cardíaco em crianças maiores de um ano de idade, além de possuírem causas, quadros clínicos e desfechos distintos dos observados na população adulta (DE ANGELIS, 2020). A apresentação clínica de crianças e adolescentes com miocardiopatia é heterogênea, podendo variar de indivíduos assintomáticos a quadro clínico de insuficiência cardíaca, arritmias e morte súbita, sendo imprescindível a avaliação da história familiar (SBP, 2017).…”