Paediatric cardiomyopathies: echocardiographic diagnosis, clinical profile, and demographic characteristics: the experience of a tertiary referral centre for Latin American paediatric cardiology

Abstract

Background:Although multiple studies have been conducted in the adult population, there is a vast knowledge gap regarding the epidemiologic characteristics of cardiomyopathies in the paediatric population. This issue is even more crucial when the precarious situation of medical research in Latin America is considered. Given the potential impact that these disorders could have on Latin American health systems, a comprehensive epidemiologic study regarding the clinical profile and sociodemographic characteristics of these patients will influence the way we approach paediatric cardiomyopathies.Methods:An observational retrospective study was conducted at a tertiary referral centre for Colombian and Latin American paediatric cardiology. We analysed all cases of primary cardiomyopathies in children younger than 18 years of age who presented at our institution between 2010 and 2016. Cases of cardiomyopathies were classified according to World Health Organization guidelines.Results:From a total of 29,533 children who attended our institution during the study period, 89 new cases of primary cardiomyopathies were identified. The median age at diagnosis was 11 years (interquartile range 4–9). Dilated cardiomyopathy accounted for 57.3% (n = 51) of cases; hypertrophic cardiomyopathy, 12.3% (n = 11); restrictive cardiomyopathy, 8.9% (n = 8); non-compacted cardiomyopathy, 7.8% (n = 7); arrhythmogenic ventricular cardiomyopathy, 6.7% (n = 6); and unspecified cardiomyopathy, 6.7% (n = 6). Heart failure was observed in 53.93% of the patients. The overall mortality was 12.36% (n = 11), which included two of eight patients who underwent cardiac transplantation.

Pediatric Cardiomyopathies: Establishing Genotype-Phenotype Relationship as a Determinant in Prognosis and Therapy: A Review of the Literature

“…These studies were carried out in Europe, North America, and Australia, and there is still a lack of epidemiological data from Brazil and Latin America. 1,[8][9][10][11] In children under 1 year of age, the diagnosis of cardiomyopathy is more frequent, with an incidence of 8.3 cases per 100,000 children per year; hypertrophic cardiomyopathy (HCM) occurs 3 times more in this age group. 1,8,12 These data may possibly be underestimated, given the impact of pediatric heart failure observed in recent years, cardiomyopathies being a common cause of heart failure, along with congenital heart diseases.…”

Left Bundle Pacing for Left Bundle Branch Block and Intermittent Third-Degree Atrioventricular Block in a MYH7 Mutation-Related Hypertrophic Cardiomyopathy With Restrictive Phenotype in a Child

“…Non-sustained ventricular tachycardia and atrial fibrillation are common in HCM while heart block is rare (1). Compared to HCM, restrictive cardiomyopathy (RCM) is a rare form of heart muscle disease with an even smaller incidence of 0.03-0.04/100,000 in children (5,6). It is known that RCM is characterized by a stiffened ventricle with biatrial enlargement, normal left ventricular wall thickness and atrioventricular valves (5).…”

“…Compared to HCM, restrictive cardiomyopathy (RCM) is a rare form of heart muscle disease with an even smaller incidence of 0.03-0.04/100,000 in children (5,6). It is known that RCM is characterized by a stiffened ventricle with biatrial enlargement, normal left ventricular wall thickness and atrioventricular valves (5). However, a third of patients with RCM have both ventricular hypertrophy and bilateral enlargement, displaying a mixed phenotype with HCM (6, 7).…”