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Aim: Passive immunisation with palivizumab is recommended in many countries for children with haemodynamically significant cardiac disease. We trialled respiratory syncytial virus (RSV) immunoprophylaxis in such infants during 2008–2009.Methods: We identified all RSV admissions between 2005–2009 and examined all patients with significant cardiac disease who received palivizumab in 2008–2009.Results: Infants with symptomatic cardiac disease had a more complicated course of RSV bronchiolitis with longer hospital stay, more frequent intensive care admission, longer intensive care stay and were more likely to receive respiratory support (all P < 0.05). One hundred seventeen infants with symptomatic cardiac disease received palivizumab. Of these, two (1.7%) required admission for RSV bronchiolitis. Overall, there was a reduction in admission of infants with symptomatic cardiac disease with RSV bronchiolitis in 2008–2009 (2% per year) compared with 2005–2007 (5–9% per year; P < 0.03). The number of patients with symptomatic cardiac disease who required intensive care for RSV bronchiolitis in the same period was unchanged, as a number presented to our service with RSV infection prior to commencing immunoprophylaxis or having had their cardiac diagnosis made in other centres.Conclusions: Compared with other infants, those with haemodynamically significant cardiac disease have a more complicated course of illness with RSV bronchiolitis. In these infants, palivizumab reduced the number of hospitalisations because of RSV. Cohorting patients for maximal palivizumab use reduced overall cost. To significantly impact on intensive care admissions overall, immunoprophylaxis should be considered at a regional level. [ABSTRACT FROM AUTHOR]

Rhabdomyomas are not uncommon in infants with tuberous sclerosis. We describe a neonate who presented with hydrops fetalis arising from a tachyarrhythmia during fetal life related to rhabdomyomas. After reversion of the arrhythmia, pre-excitation was noted on an interval electrocardiogram. Following regression of the tumours, the delta wave disappeared with no further arrhythmias noted. [ABSTRACT FROM AUTHOR]

Background: Triggers and exacerbants of cirrhotic cardiomyopathy (CC) are poorly understood, limiting treatment options in patients with chronic liver diseases. Liver transplantation alone reverses some features of CC, but the physiology behind this effect has never been studied., Aims: We aimed to determine whether reversal of liver injury and fibrosis in mouse affects cardiac parameters. The second aim was to determine whether cardiomyopathy can be induced by specifically increasing systemic bile acid (BA) levels., Methods: 6-8 week old male C57BL6J mice were fed either chow (n = 5) or 3,5-diethoxycarbonyl-1,4-dihydroxychollidine (DDC) (n = 10) for 3 weeks. At the end of 3 weeks, half the mice in the DDC fed group were randomized to chow (the reversed [REV] group). Serial ECHOs and electrocardiographic analysis was conducted weekly for 6 weeks followed by liver tissue and serum studies. Hearts were analysed for key components of function and cell signalling. Cardiac physiological and molecular parameters were similarly analysed in Abcb11(-/-) mice (n = 5/grp) fed 0.5% cholic acid supplemented diet for 1 week., Results: Mice in the REV group showed normalization of biochemical markers of liver injury with resolution of electrocardiographic and ECHO aberrations. Catecholamine resistance seen in DDC group resolved in the REV group. Cardiac recovery was accompanied by normalization of cardiac troponin-T2 as well as resolution of cardiac stress response at RNA level. Cardiovascular physiological and molecular parameters correlated with degree of cholanemia. Cardiomyopathy was reproduced in cholanemic BA fed Abcb11(-/-) mice., Conclusions: Cardiomyopathy resolves with resolution of liver injury, is associated with cholanaemia, and can be induced by BA feeding., (© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Mutations in FBN1 cause a range of overlapping but distinct conditions including Marfan syndrome (MFS), Weill-Marchesani syndrome (WMS), familial thoracic aortic aneurysms/dissections (FTAAD), acromicric dysplasia (AD), and geleophysic dysplasia (GD). Two forms of acromelic dysplasia, AD and GD, characterized by short stature, brachydactyly, reduced joint mobility, and characteristic facies, result from heterozygous missense mutations occurring in exons 41 and 42 of FBN1; missense mutations in these exons have not been reported to cause MFS or other syndromes. Here we report on probands with MFS and WMS who have heterozygous FBN1 missense mutations in exons 41 and 42, respectively. The proband with WMS has ectopia lentis, short stature, thickened pinnae, tight skin, striae atrophicae, reduced extension of the elbows, contractures of the fingers and toes, and brachydactyly and has a missense mutation in exon 42 of FBN1 (c.5242T>C; p.C1748R). He also experienced a previously unreported complication of WMS, an acute thoracic aortic dissection. The second proband displays classic characteristics of MFS, including ectopia lentis, skeletal features, and aortic root dilatation, and has a missense mutation in exon 41 of FBN1 (c.5084G>A; p.C1695Y). These phenotypes provide evidence that missense mutations in exons 41 and 42 of FBN1 lead to MFS and WMS in addition to AD and GD and also suggest that all individuals with pathogenic FBN1 mutations in these exons should be assessed for thoracic aortic disease and ectopia lentis. Further studies are necessary to elucidate the factors responsible for the different phenotypes associated with missense mutations in these exons of FBN1., (Copyright © 2013 Wiley Periodicals, Inc.)

We describe a newborn girl with incontinentia pigmenti (IP, MIM308300), unilateral acheiria, and fatal primary pulmonary hypertension. Limb deficiency has not been described previously in IP and pulmonary hypertension only on two previous occasions. A review of the cause of IP shows that these rare manifestations may not be unexpected, given the many roles of the underlying gene product.

Abnormal loading and distension of the right ventricle may induce arrhythmia through the process of mechanoelectrical feedback. Nonetheless, the electrophysiological effects of right ventricular distension are ill-defined and the mechanisms which underpin mechanoelectrical feedback in the right ventricle are unknown. We examined the effects of changes in right ventricular load (complete occlusion of both caval veins or the main pulmonary artery) in 14 anaesthetised lambs, instrumented with right ventricular surface electrodes and strain gauges for recording monophasic action potential and segment length, and an integrated conductance and micromanometer-tipped catheter for measurement of right ventricular pressure and volume. Caval occlusion did not alter right ventricular segment length and monophasic action potential duration. By contrast, pulmonary arterial occlusion increased the segment length and decreased the monophasic action potential duration at 25, 50 and 70% repolarisation by 29 +/- 6, 22 +/- 4 and 17 +/- 3 ms, respectively (all P < 0.01). Of the 42 pulmonary arterial occlusions, 38 were associated with early afterdepolarisations (EADs) which increased progressively in magnitude as the occlusion was maintained until, in 32, overt arrhythmia was observed. By contrast, none of the four occlusions in which EADs were not observed resulted in arrhythmia. As a result, the proportion of occlusions which resulted in arrhythmia were greater in those associated with EADs than in those which were not (P = 0.002). Right ventricular distension alters the pattern of repolarisation, precipitates early afterdepolarisations and results in a variety of ventricular arrhythmia, including ventricular tachycardia.

Pulmonary arterial size was measured during cineangiography in 23 patients, 1.9 months before, and 14 months after bidirectional cavopulmonary connection (BCPC). Measurements were standardized for body surface area using the method of Nakata and co-workers (pulmonary artery index). There was a significant reduction in pulmonary artery index after BCPC. These data suggest that pulmonary arterial growth is impaired after the creation of a BCPC. This may be related to an absolute reduction in pulmonary arterial flow, and/or the loss of systolic expansion of the pulmonary artery.

The optimal management of infants with pulmonary atresia with intact ventricular septum (PA.IVS) remains a controversy. Attempts have been made to base the surgical approach on various geometrical or morphological characteristics of the right ventricle (RV). However, the overall results remain poor when compared to other complex congenital heart defects. Forty-eight neonates with PA.IVS were admitted to our unit between 1980 and 1992. The management plan has evolved to be based entirely on the echocardiographic assessment of the state of development of the infundibulum of the RV. In neonates with a well-formed infundibulum (n = 31), the initial palliation consisted mainly of pulmonary valvotomy (without cardiopulmonary bypass) and PTFE shunt from the left subclavian artery to the main pulmonary artery. There was one death from initial palliation in this subgroup. If necessary, the RV cavity was later enlarged by excision of the hypertrophic muscle of both the trabecular and infundibular portions, before finally attempting biventricular repair. The actuarial probability of achieving a biventricular repair at 40 months of age was 60% (95% CL = 39.5% to 71.3%). Thirteen patients have undergone biventricular repairs with one late death over a total follow-up of 1,720 patient months. In one patient, the RV failed to grow satisfactorily, necessitating a Fontan procedure. Seventeen patients without a well-formed infundibulum were approached with a Fontan procedure in mind. The initial palliation in these patients consisted of a modified Blalock-Taussig shunt only. Ten have undergone a Fontan procedure so far and five are awaiting such repairs. In this group there were four operative deaths: two after initial palliation, and two after Fontan procedures. In patients with a well-developed infundibulum, the actuarial survival probability was 93% (95% CL = 74% to 98%) at 8 months with no further late deaths over 120 months follow-up, whereas in patients without a well-formed infundibulum it was 75% at 40 months (95% CL = 46% to 89%). The overall survival probability at 104 months was 77% (95% CL = 51% to 90%).