Patient characteristics in persistent pulmonary hypertension of the newborn.

Objective. To assess the impact of PPHN on mortality, morbidity, and behavioural skills. Methods. A retrospective observational study of 143 newborns with PPHN, over an 11-year period, using objective health-status data from medical records and family doctors, and subjective health status data from a standardized Child Behaviour Checklist. Results. The majority of patients were males, treated with inhaled nitric oxide had maladaptation/maldevelopment as pathophysiological mechanism and a gestational age >37 weeks. In term newborns, types of pathophysiological mechanism (P < .001) and Oxygen Index (P = .02) were independent predicting risk factors for PPHN-related mortality. Analysis of preexisting disease and outcome categories in term newborns showed only a significant correlation between the use of iNO and respiratory complaints (P = .03), not confirmed by multivariate analysis and regression analysis. Conclusions. PPHN is a serious, often fatal condition. The incidence of PPHN in preterm newborns is high. In term survivors, PPHN had no additional role in morbidity/outcome.

Management of pulmonary arterial hypertension in children.

In this review we discuss the new anti- Pulmonary Arterial Hypertension [PAH] drugs and the available data on their use in paediatric PAH. Treatment of patients with PAH, children and adults, is aimed at a reduction of symptoms, survival and improvement of haemodynamics as well as exercise capacity. PAH may reflect significant different disease conditions in infants and children when compared to PAH in adults. In contrast to adult PAH, characterized mainly by idiopathic PAH and PAH associated with connective tissue disease, more than half of the cases of PAH in children are associated with congenital heart disease. Therefore, efficacy of PAH drugs in these diseases can not be extrapolated from that in adults with PAH.

Amplitude integrated electroencephalographic activity in infants with congenital heart disease before surgery.

BACKGROUND: Infants with congenital heart disease (CHD) are at risk for brain injury. An accurate tool to monitor brain function is amplitude integrated EEG (aEEG). It records both background patterns and electrographic seizure activity (EA). AIMS: Our aim was to determine aEEG patterns in infants with CHD and to determine the differences between infants with a cyanotic or an acyanotic CHD. STUDY DESIGN AND SUBJECTS: Sixty-two full term newborns had either a cyanotic CHD (transposition of the great arteries (n=24)) or an acyanotic CHD (hypoplastic left heart syndrome (n=26), critical aortic valve stenosis (n=1) or aortic coarctation (n=11)). The background patterns, sleep-wake cycling (SWC), and EA were assessed. The first 72h after starting prostaglandin E(1)-therapy were used for analysis. RESULTS: The background patterns were mildly abnormal in 45% of the infants and severely abnormal at some point during the recording in 14% of the infants. We found no differences in background patterns between the two groups. EA was present in 12 (19%) infants. EA was more frequent in infants with acyanotic CHD (OR 9.4, 95% CI 1.1-78, p=0.039). SWC was equally frequent in infants with cyanotic and infants with acyanotic CHD. A severely abnormal aEEG and EA were associated with more profound acidosis. CONCLUSIONS: Before surgery the majority of infants with a CHD had an abnormal aEEG. aEEG helped to identify EA and it was a useful tool to evaluate brain function prior to surgery in CHD.

Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.

Background. About 30% of dilated cardiomyopathy (DCM) cases are familial. Mutations are mostly found in the genes encoding lamin A/C, beta-myosin heavy chain and the sarcomeric protein cardiac troponin-T (TNNT2). Mutations in TNNT2 are reported in approximately 3% of DCM patients. The overall phenotype caused by TNNT2 mutations is thought to be a fully penetrant, severe disease. This also seems to be true for a recurrent deletion in the TNNT2 gene; p.K217del (also known as p.K210del). Methods. We compared the phenotype of all Dutch patients identified as carrying the TNNT2 p.K217del mutation with those described in the literature. All index patients underwent cardiological evaluation. Family screening was done in all described families. Results. Six DCM patients carrying the TNNT2 p.K217del mutation were identified from four Dutch families. Mean age of disease manifestation was 33 years. Heart transplantation was required in three of them at ages 12, 18 and 19 years. These outcomes are comparable with those described in the literature. Conclusion. Carriers of the TNNT2 p.K217del mutation in our Dutch families, as well as in families described in the literature before, generally show a severe, early-onset form of DCM. (Neth Heart J 2010;18:478-85.).