No abstract

We report the case of fetal goiter which occurred in two consecutive pregnancies in the same patients. The first one, due to too late diagnosis and no intrauterine treatment, contributed to the immediate postnatal death of the newborn; the second one was properly diagnosed at 19 weeks and then effectively treated prenatally which allowed to avoid the fatal complications for the fetus and the newborn.

Background: Alveolar capillary dysplasia (ACD) is a rare cause of severe pulmonary hypertension and respiratory failure in neonates. The onset of ACD is usually preceded by a short asymptomatic period. The condition is refractory to all available therapies as it irreversibly affects development of the capillary bed in the lungs. The diagnosis of ACD is based on histopathological evaluation of lung biopsy or autopsy tissue or genetic testing of FOXF1 on chromosome 16q24.1. Here, we describe the first two Polish patients with ACD confirmed by histopathological and genetic examination. Case presentation: The patients were term neonates with high Apgar scores in the first minutes of life. They both were diagnosed prenatally with heart defects. Additionally, the first patient presented with omphalocele. The neonate slightly deteriorated around 12 th hour of life, but underwent surgical repair of omphalocele followed by mechanical ventilation. Due to further deterioration, therapy included inhaled nitric oxide (iNO), inotropes and surfactant administration. The second patient was treated with prostaglandin E1 since birth due to suspicion of aortic coarctation (CoA). After ruling out CoA in the 3 rd day of life, infusion of prostaglandin E1 was discountinued and immediately patient's condition worsened. Subsequent treatment included re-administration of prostaglandin E1, iNO and mechanical ventilation. Both patients presented with transient improvement after application of iNO, but died despite maximized therapy. They were histopathologically diagnosed post-mortem with ACD. Array comparative genomic hybridization in patient one and patient two revealed copy-number variant (CNV) deletions, respectively,~1.45 Mb in size involving FOXF1 and an~0.7 Mb in size involving FOXF1 enhancer and leaving FOXF1 intact. Conclusions: Both patients presented with a distinct course of ACD, extra-pulmonary manifestations and response to medications. Surgery and ceasing of prostaglandin E1 infusion should be considered as potential causes of this variability. We further highlight the necessity of thorough genetic testing and histopathological examination and propose immunostaining for CD31 and CD34 to facilitate the diagnostic process for better management of infants with ACD.

No abstract

Cardiovascular defects occur in 50% of patients with Turner syndrome (TS). The aim of the study was to estimate the usefulness of cardiac magnetic resonance imaging (CMR) and magnetic resonance angiography (angio-MR) as diagnostics in children and adolescents with TS. Forty-one females with TS, aged 13.9 ± 2.2 years, were studied. CMR was performed in 39 patients and angio-MR in 36. Echocardiography was performed in all patients. The most frequent anomalies diagnosed on CMR and angio-MR were as follows: elongation of the ascending aorta (AA) and aortic arch, present in 16 patients (45.7%), a bicuspid aortic valve (BAV), present in 16 patients (41.0%), and partial anomalous pulmonary venous return (PAPVR), present in six patients (17.1%). Aortic dilatation (Z-score > 2) was mostly seen at the sinotubular junction (STJ) (15 patients; 42.8%), the AA (15 patients; 42.8%), the thoracoabdominal aorta at the level of a diaphragm (15 patients; 42.8%), and the transverse segment (14 patients; 40.0%). An aortic size index (ASI) above 2.0 cm/m2 was present in six patients (17.1%) and above 2.5 cm/m2 in three patients (8.6%). The left ventricular end-diastolic volume (EDV), end-systolic volume (ESV), and stroke volume (SV) were diminished (Z-score < −2) in 10 (25.6%), 9 (23.1%), and 8 patients (20.5%), respectively. A webbed neck was correlated with the presence of vascular anomalies (p = 0.006). The age and body mass index (BMI) were correlated with the diameter of the aorta. Patients with BAV had a greater aortic diameter at the ascending aorta (AA) segment (p = 0.026) than other patients. ASI was correlated with aortic diameter and descending aortic diameter (AD/DD) ratio (p = 0.002; r = 0.49). There was a significant correlation between the right ventricular (p = 0.002, r = 0.46) and aortic diameters at the STJ segment (p = 0.0047, r = 0.48), as measured by echocardiography and CMR. Magnetic resonance can identify cardiovascular anomalies, dilatation of the aorta, pericardial fluid, and functional impairment of the ventricles not detected by echocardiography. BMI, age, BAV, and elongation of the AA influence aortic dilatation. The ASI and AD/DD ratio are important markers of aortic dilatation. The performed diagnostics did not indicate a negative influence of GH treatment on the cardiovascular system.

We aimed prospectively to determine the incidence of ventricular arrhythmias and ventricular late potentials in children with mitral valvar prolapse, and to assess whether signal-averaged electrocardiography could identify which such children were at high risk of developing ventricular tachycardia. In all, we examined 151 children with mitral valvar prolapse, at an age of 12.2 +/- 3.1 years, and 164 healthy subjects aged 12.3 +/- 3.7 years. All children underwent 24-hour ambulatory Holter monitoring and echocardiography. The children with mitral valvar prolapse were followed prospectively for a mean of 64 months. There was a significantly higher prevalence of ventricular arrhythmias in those with prolapse than in the controls (p < 0.0001). Runs of ventricular tachycardia were observed in 3 children with mitral valvar prolapse compared with one from the control group. Late potentials were more frequently observed in the children with mitral valvar prolapse than in those who were healthy (p < 0.0001), and also in those with prolapse suffering ventricular arrhythmias compared with those without ventricular arrhythmias (p < 0.02). During follow-up, 24 children with prolapsing mitral valves developed non-sustained ventricular tachycardia, giving a frequency of 3.1/100 subject-years. The sensitivity of late potentials was low, at 52%, for the identification of children with mitral valvar prolapse who developed ventricular tachycardia, although the specificity was high at 90%. This gave a positive predictive value of 50%, and a negative predictive value of 91%. We conclude that prolapse of the mitral valve predisposes to the development of ventricular arrhythmias and late potentials in children. An abnormal signal-averaged electrocardiogram is a specific, but not very sensitive, predictor for the development of ventricular tachycardia in such children.

Improvement of the systolic function after the surgery was noted in both groups. In patients with low AOVI%, postsurgical pressure gradient, either residual or recurrent, appeared during the follow-up. As for the septal incision, it may have some transient effects on the left ventricle function in the postoperative period, but no permanent sequelae were observed in the long-term follow-up.

Case of the month: a 4-year-old girl with cardiac insufficiency and intermittent fever Eur J Pediatr (1997) 156: 153 -154