Dimpna Albert Brotons

Severe foetal hypertrophic cardiomyopathy evolving to left ventricular non-compaction

A 29-week-old male foetus was diagnosed by foetal echocardiography with severe hypertrophic cardiomyopathy with systolic dysfunction and generalized oedema, undergoing a Caesarean section at 33 weeks. Mechanical ventilation and milrinone infusion were required during the first week. Systolic function and output parameters improved progressively. Metabolic and infectious screenings were negative. At the follow-up, during the first year of life, hypertrophy regressed, posterior right auricular hypertrophy evolved to a mass with cysts, and left ventricular myocardium developed trabeculations accomplishing non-compaction criteria. Recently, mutations in genes previously implicated in the pathogenesis of hypertrophic cardiomyopathy have been identified in patients with left ventricular non-compaction without hypertrophy. This report suggests that these cardiomyopathies may have a similar genetic origin, and can co-exist in the same patient.

Use of inhaled iloprost in children with pulmonary hypertension.

Pulmonary hypertension (PH) in children is a serious disorder, for which the major goal of treatment is to prevent progressive vascular remodeling, and improve clinical status and survival. Iloprost is approved for the treatment of PH in adults; however, few studies have evaluated its effects in children. The objective of this study is to analyze the long‐term effects of inhaled iloprost treatment in children with PH. A retrospective study was conducted in patients treated with iloprost between 2000 and 2012. Patients with left–right cardiac shunt and persistent PH of the newborn were excluded. The cohort comprised 22 patients (15 females) with a median age of 2.6 years. Twelve patients had pulmonary arterial hypertension including idiopathic (n = 6), hereditary (n = 2) and associated (congenital heart disease [n = 3], and schistosomiasis [n = 1]). One patient had pulmonary veno‐occlusive disease, six patients had PH secondary to lung disease and three had multifactorial PH. Median mean pulmonary arterial pressure was 55 mmHg and median pulmonary vascular resistance was 15.5 Wood units. Good tolerability was observed, with the exception of one case of recurring abdominal pain. PH resolved in two patients, with functional capacity improvement in 10 patients and stabilization in three patients. The clinical condition of six patients deteriorated; two died, and two received lung transplants. In conclusion, the results of this uncontrolled study showed that iloprost was effective and well tolerated in children. However, further research is needed to support this study, as PH is a serious condition that can require organ transplantation or result in death. Pediatr Pulmonol. 2015; 50:370–379.

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.

Situación actual de la organización, recursos y actividad en cardiología pediátrica en España

INTRODUCTION The results are presented on the «current situation of the organisation, resources and activity in paediatric cardiology in Spain». It was promoted by the Spanish Society of Paediatric Cardiology and Congenital Heart disease. MATERIAL AND METHODS An analysis was carried out on the results obtained from a specifically designed questionnaire, prepared by the Spanish Society of Paediatric Cardiology and Congenital Heart disease, that was sent to all hospitals around the country that offer the speciality of paediatric cardiology. RESULTS A total of 86 questionnaires were obtained, including 14 hospitals that perform cardiac surgery on children. A total of 190 paediatric cardiology consultants, 40 cardiac surgeons, and 27 middle grade doctors performing their paediatric residency (MIR program) were identified. All hospitals had adequate equipment to perform an optimal initial evaluation of any child with a possible cardiac abnormality, but only tertiary centres could perform complex diagnostic procedures, interventional cardiology, and cardiac surgery. In almost all units around the country, paediatric cardiology consultants were responsible for outpatient clinics and hospital admissions, whereas foetal cardiology units were still mainly managed by obstetricians. The number of diagnostic and therapeutic procedures was similar to those reported in the first survey, except for a slight decrease in the total number of closed cardiac surgery procedures, and a proportional increase in the number of therapeutic catheterisations. CONCLUSIONS Paediatric Cardiology in Spain is performed by paediatric cardiology consultants that were trained initially as general paediatricians, and then completed a paediatric cardiology training period. Almost all units have adequate means for diagnosis and treatment. Efforts should be directed to create a national registry that would not only allow a prospective quantification of diagnostic and therapeutic procedures, but also focus on their clinical outcomes.

Caracterización y factores de riesgo de dilatación aórtica en pacientes pediátricos con válvula aórtica bicúspide

INTRODUCTION AND OBJECTIVES Dilatation of the ascending aorta associated with bicuspid aortic valve is a major cause of morbidity and mortality in adults. The main objective was to recognize the aortic involvement in children, its characteristics and risk factors. METHODS Aortic measures of all pediatric patients with bicuspid aortic valve followed in a tertiary pediatric hospital between 1997 and 2015 were retrospectively taken. Patients with syndromes associated with aortic dilatation were excluded (n=17). RESULTS Two hundred and six patients were included, 67.9% males. The commonest opening pattern was horizontal: 137 (66.7%). Half of the patients (101) had a history of surgical aortic coarctation, 46 (22.3%) had≥moderate aortic valve stenosis and 13 (6%) had≥moderate aortic insufficiency. Mean follow-up time was 6.1 (4.9) years; diagnosis of aortic dilatation was made during the first year of follow-up. Progression of the dilatation of the ascending aorta was noted in 17.1%, and of the aortic root in 2.5%. More than one-third (80/206) had aortic dilatation (z-score>2). The ascending aorta was exclusively affected in 70/80 patients, with sparing of the aortic root. In the multivariate analysis, patients with dilatation of the ascending aorta were associated with absence of coarctation (P=.001) and vertical opening pattern (P=.007). CONCLUSIONS Pediatric patients with bicuspid aortic valve warrant medical follow-up for the frequent association with valve impairment and/or dilatation of the ascending aorta.

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.