[Cardiomyopathy and inborn errors of metabolism in children. Study of 12 cases]. / Miocardiopatía en niños con errores innatos del metabolismo: descripción de 12 casos.

BACKGROUND AND OBJECTIVE: Cardiomyopathy in childhood is a rare entity. Inborn errors of metabolism can cause myocardial involvement by several mechanisms. PATIENTS AND METHODS: Patients under 16 years diagnosed with cardiomyopathy and EIM in a period of 11 years (1998-2009) were included. RESULTS: A total of 12 patients were studied (8% of all cardiomyopathies), 9 boys and three girls, with a median age at diagnosis of 6 months (range: birth-8.8 years). Fifty percent had an onset with cardiac symptoms and heart failure was associated with an earlier diagnosis of the disease (P<.05). On ultrasound 10 patients had ventricular hypertrophy, which was associated with mitochondrial and lysosomal disease; only 2 patients had ventricular dilatation, which was associated with altered fatty acid metabolism (P<.05). The median survival was 5 months (range: 2-11 months). No variable was significantly associated with the likelihood of death. CONCLUSIONS: Patients with heart failure at onset are diagnosed earlier (before 3 months of life). Echocardiography helps in the diagnosis and monitoring of metabolic disease.

Congenital left ventricular subaortic aneurysm in an asymptomatic child.

A newborn was referred to our department, due to the presence of a cardiac murmur. Echocardiographic study showed a small membranous ventricular septal defect and a yuxta-aortic mass. In the follow-up, patient remained asymptomatic, ventricular septal defect closed, and yuxta-aortic mass increase in size with somatic growth. A transesophageal echocardiography was carried out, showing a fibrotic and dyskinetic left ventricular subaortic aneurysm of 19×18 mm. Given that the patient remained asymptomatic, a conservative approach was adopted. Congenital left ventricular subaortic aneurysm is an infrequent entity, and rupture, endocarditis, coronary compression, thromboembolism, arrhythmias and aortic insufficiency are some of its complications, but, as in our patient, if aneurysm is not associated with complications, patient is asymptomatic, and aneurysm growth is not very important, a conservative approach can be adopted, with a close surveillance.

Three-dimensional imaging of redundant Chiari's network prolapsing into right ventricle.

An asymptomatic 1-month-old girl was studied in another institution because of the presence of a cardiac murmur, and referred to our center for further evaluation as a result of tricuspid valve abnormalities detected in the echocardiographic study. Echocardiography revealed a very redundant, thin, freely mobile structure in the right atrium, moving rapidly in (systole) and out (diastole) of the right ventricle through the tricuspid orifice. It arose from near the border of the inferior vena cava and attached to the atrial wall close to the coronary sinus ostium, suggesting an unusually prominent Chiari's network. Three-dimensional imaging allowed definition of the structure in all the planes and dimensions, and the relationship of the structure with right atrium and ventricle. Chiari's network is an embryonic remnant present in 2% to 3% of the population. The identification of a Chiari's network is important because the widely mobile structure within the right atrium can be confused with other entities, such as right heart vegetation, flail tricuspid leaflet, ruptured chordae tendinae, or a thrombus.

Miocardiopatía en niños con errores innatos del metabolismo: descripción de 12 casos / Cardiomyopathy and inborn errors of metabolism in children. Study of 12 cases

Fundamento y objetivo: La miocardiopatía en la infancia es una entidad poco frecuente. Los errores innatos del metabolismo (EIM) pueden causar afectación del miocardio por diversos mecanismos fisiopatológicos.Pacientes y método: Menores de 16 años diagnosticados de miocardiopatía y EIM en un período de 11 años (1998-2009). Resultados: Se han estudiado 12 pacientes (8% del total de miocardiopatías), 9 niños y 3 niñas, con una edad mediana al diagnóstico de 6 meses (rango, nacimiento-8,8 años). El 50% comenzaron con sintomatología cardiaca, y la descompensación cardiaca es la forma de presentación que se ha relacionado con un diagnóstico más precoz de la enfermedad (p<0,05). En el estudio ecográfico 10 pacientes presentaron hipertrofia ventricular, relacionándose con enfermedad mitocondrial y lisosomal; sólo 2 pacientes presentaron dilatación ventricular, que se relaciona con alteración del metabolismo de los ácidos grasos (p<0,05). La supervivencia mediana fue de 5 meses (rango, 2-11 meses). Ninguna variable se ha relacionado de forma estadísticamente significativa con la probabilidad de fallecer. Conclusiones:Los pacientes que comienzan en forma de descompensación cardiaca se diagnostican más precozmente. La ecocardiografía orienta en el diagnóstico etiológico y en el seguimiento de la enfermedad metabólica (AU)

Background and objective: Cardiomyopathy in childhood is a rare entity. Inborn errors of metabolism can cause myocardial involvement by several mechanisms. Patients and methods: Patients under 16 years diagnosed with cardiomyopathy and EIM in a period of 11 years (1998-2009) were included. Results: A total of 12 patients were studied (8% of all cardiomyopathies), 9 boys and three girls, with a median age at diagnosis of 6 months (range: birth-8.8 years). Fifty percent had an onset with cardiac symptoms and heart failure was associated with an earlier diagnosis of the disease (P<.05). On ultrasound 10 patients had ventricular hypertrophy, which was associated with mitochondrial and lysosomal disease; only 2 patients had ventricular dilatation, which was associated with altered fatty acid metabolism (P<.05). The median survival was 5 months (range: 2-11 months). No variable was significantly associated with the likelihood of death. Conclusions: Patients with heart failure at onset are diagnosed earlier (before 3 months of life). Echocardiography helps in the diagnosis and monitoring of metabolic disease (AU)