Miocardiopatia não compactada em crianças e adolescentes: do desafio do diagnóstico ecocardiográfico ao acompanhamento clínico / Non-compacted cardiomyopathy in children and adolescents: from the challenge of echocardiographic diagnosis to clinical follow-up

Fundamentos: Miocardiopatia não compactada (MCNC) caracteriza-se por hipertrabeculações e recessos profundos no ventrículo esquerdo, com apresentação clínica heterogênea, desde pacientes assintomáticos a insuficiência cardíaca (IC), eventos tromboembólicos arritmias com risco de morte súbita. Por ser rara e não apresentar critérios diagnósticos bem definidos, sua história natural na pediatria é pouco conhecida. Este estudo descreve a apresentação e evolução clínica de pacientes portadores de MCNC. Metodologia: Estudo observacional, longitudinal, prospectivo, de pacientes pediátricos atendidos em um centro de referência em cardiologia pediátrica provenientes da região metropolitana II do Estado do Rio de Janeiro, com fenótipo de MCNC ao ecocardiograma (ECO) no período de 2 anos de acompanhamento, provenientes do Registro ChARisMa. Resultados: Analisados seis pacientes com MCNC, de 4 a 14 anos de idade, média de idade de 7,5 anos (DP: 3,93), 3 do sexo masculino (50%). Apresentando-se com IC (n=2), sopro cardíaco (n=1), arritmia cardíaca (n=1), assintomático (n=1) ou em investigação de síndrome genética (n=1). Fenótipos ao ECO: MCNC/Miocardiopatia dilatada (n=1) e MCNC/Miocardiopatia restritiva (n=1), fenótipo isolado de MCNC (n=4). A ressonância magnética cardíaca foi realizada, confirmando o diagnóstico (n=4). Os desfechos observados foram tromboembolismo, indicação de transplante cardíaco e taquicardia ventricular sustentada. Conclusões: Esta série de casos proporciona dados relevantes da MCNC pediátrica, mostrando a heterogeneidade da apresentação clínica, bem como a ocorrência de complicações potencialmente fatais. São necessários mais estudos prospectivos para que seu diagnóstico seja corretamente realizado e sua evolução clínica, resposta terapêutica e prognóstico sejam mais bem conhecidos. (AU)

Background: Non-compacted cardiomyopathy (NCCM) is characterized by hypertrabeculations and deep recesses in the left ventricle, with a heterogeneous clinical presentation, ranging from asymptomatic patients to those with heart failure (HF), thromboembolic events and arrhythmias with risk of sudden death. As it is rare and does not have well-defined diagnostic criteria, its natural history in pediatrics is poorly understood. This study describes the clinical presentation and clinical course of patients with NCCM. Methodology: Observational, longitudinal, prospective study of pediatric patients seen at a pediatric cardiology referral center from metropolitan region II in the state of Rio de Janeiro, with NCCM phenotype on echocardiogram (ECHO) during a 2-year follow-up, from the ChARisMa registry. Results: 6 patients aged 4 to 14, with NCCM, were analyzed. Mean age 7.5 years (SD: 3.93), 3 males (50%). The patients presented HF (n=2), cardiac murmur (n=1), cardiac arrhythmia (n=1), were asymptomatic (n=1) or were under investigation for a genetic syndrome (n=1). Phenotypes on ECHO: NCCM/dilated cardiomyopathy (n=1) and NCCM/restrictive cardiomyopathy (n=1), isolated phenotype of NCCM (n=4). Cardiac magnetic resonance imaging was performed and confirmed the diagnosis (n=4). The outcomes observed were thromboembolism, indication for heart transplantation, and sustained ventricular tachycardia. Conclusions:This case series provides relevant data for pediatric NCCM as it shows its heterogeneous clinical presentation and potentially fatal complications. More prospective studies are needed for an accurate diagnosis and to allow its clinical course, therapeutic response and prognosis to be better known. (AU)

Non-alcoholic Fatty Liver Disease and Its Links with Inflammation and Atherosclerosis.

PURPOSE OF REVIEW: We summarize best data of the association between non-alcoholic fatty liver disease (NAFLD) and cardiovascular disease (CVD). RECENT FINDINGS: NAFLD has been linked with insulin resistance, obesity, and metabolic syndrome, conditions known to be associated with CVD and subclinical atherosclerosis. The rising evidence of the association between NAFLD and subclinical CVD may suggest that NAFLD is not only a marker but also may be actively involved in pathogenesis of CVD. It is an overview of previous studies assessing relationships between NAFLD and markers of cardiovascular disease, as the presence of coronary artery calcification, increased arterial stiffness, and elevated carotid media thickness, in order to better understand the interplay between these conditions.