Tolvaptan treatment in an adult Fontan patient with protein-losing enteropathy: a serial Na-MRI investigation.

Background: Protein-losing enteropathy (PLE) is a severe complication of the univentricular Fontan circulation and associated with disturbances in salt and water homeostasis. Fontan patients with PLE have a poor prognosis, with increased morbidity and mortality. Due to limited therapeutic strategies, patients are often treated only symptomatically.

Lymphocyte Immune Response and T Cell Differentiation in Fontan Patients with protein-losing enteropathy.

Background: Protein-losing enteropathy (PLE) is a severe complication of the Fontan circulation. There is increasing discussion about whether lymphatic dysregulation is involved as pathomechanism of PLE. This investigation focuses on the interplay between alteration of lymphatic cells and immunologic pathway alterations.

Multisite measurement of regional oxygen saturation in Fontan patients with and without protein-losing enteropathy at rest and during exercise.

Background: Protein-losing enteropathy (PLE) is a severe complication of Fontan circulation with increased risk of end-organ dysfunction. We evaluated tissue oxygenation via near-infrared spectroscopy (NIRS) at different exercise levels in Fontan patients.

Methods: Assessment of multisite NIRS during cycle ergometer exercise and daily activities in three groups: Fontan patients with PLE; without PLE; patients with dextro-transposition of the great arteries (d-TGA); comparing univentricular with biventricular circulation and Fontan with/without PLE.

First experience with Tolvaptan for the treatment of neonates and infants with capillary leak syndrome after cardiac surgery.

Background: Postoperative fluid management in critically ill neonates and infants with capillary leak syndrome (CLS) and extensive volume overload after cardiac surgery on cardiopulmonary bypass is challenging. CLS is often resistant to conventional diuretic therapy, aggravating the course of weaning from invasive ventilation, increasing length of stay on ICU and morbidity and mortality.

Methods: Tolvaptan (TLV, vasopressin type 2 receptor antagonist) was used as an additive diuretic in neonates and infants with CLS after cardiac surgery.

Evaluation of ventricular septal defects using high pitch computed tomography angiography of the chest in children with complex congenital heart defects below one year of age.

Background: Aim of this study was to assess the accuracy of ventricular septal defects (VSD) using high pitch computed tomography angiography (CTA) of the chest in children below 1 year of age, compared to the intraoperative findings and echocardiography.

Methods: Out of 154 patients that underwent Dual-Source CTA of the chest using a high-pitch protocol at low tube voltages (70-80 kV), 55 underwent surgical repair of a VSD (median age 8 days, range 1-348 days). The margins of the VSDs and their relation to the surrounding structures were reproduced by en-face views using multiplanar reformations (MPR).

Systemic-to-pulmonary artery shunting using heparin-bonded grafts.

Objectives: Systemic-to-pulmonary artery shunting remains an important palliative procedure in the staged management of complex congenital heart defects. The use of heparin-bonded polytetrafluoroethylene shunts (HBPSs) should enhance graft patency. This study aimed to review the single-centre experience using HBPS in the context of congenital cardiac surgery.

A map of human circular RNAs in clinically relevant tissues.

Cellular circular RNAs (circRNAs) are generated by head-to-tail splicing and are present in all multicellular organisms studied so far. Recently, circRNAs have emerged as a large class of RNA which can function as post-transcriptional regulators. It has also been shown that many circRNAs are tissue- and stage-specifically expressed.

The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5.

G protein-coupled receptor kinase 5 (GRK5) is a regulator of cardiac performance and a potential therapeutic target in heart failure in the adult. Additionally, we have previously classified GRK5 as a determinant of left-right asymmetry and proper heart development using zebrafish. We thus aimed to identify GRK5 variants of functional significance by analysing 187 individuals with laterality defects (heterotaxy) that were associated with a congenital heart defect (CHD).

Performance of stented biological valves for right ventricular outflow tract reconstruction.

Objectives: This retrospective single-centre review presents mid- and long-term results of stented biological valves (SBVs) in the pulmonary position.

Methods: Fifty-two SBVs (17 Carpentier-Edwards Supraannular; 13 Carpentier-Edwards Perimount; 12 St. Jude Medical Trifecta; 4 Sorin Mitroflow; 4 Sorin Soprano; 2 Sorin More) were implanted between 2000 and 2015.

Comparable Cerebral Blood Flow in Both Hemispheres During Regional Cerebral Perfusion in Infant Aortic Arch Surgery.

Background: Cerebral protection during aortic arch repair can be provided by regional cerebral perfusion (RCP) through the innominate artery. This study addresses the question of an adequate bilateral blood flow in both hemispheres during RCP.

Methods: Fourteen infants (median age 11 days [range, 3 to 108]; median weight, 3.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2).

Pediatric Extracorporeal Life Support Using a Third Generation Diagonal Pump.

This study reports a single-centre experience of the Medos Deltastream diagonal-pump (DP3) for extracorporeal cardiac, pulmonary, or combined support in a single-center pediatric cohort. Twenty-seven consecutive patients with 28 runs of the DP3 between January 2013 and June 2014 were included for analysis. Median patient age, weight, and duration of support were 278 days (range: 0 days-14.

Transmural Placement of Endocardial Pacing Leads in Patients With Congenital Heart Disease.

Background: This study evaluates the feasibility and outcomes of transmural placement of endocardial leads (TML) in patients with congenital heart disease.

Methods: Between October 2009 and May 2015, 29 TML procedures were performed in 27 patients. Leads are grouped according to their pacing site: atrial (TML-A, n = 24) or ventricular (TML-V, n = 12).

Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly.

Autosomal-dominant hypertension with brachydactyly is a salt-independent Mendelian syndrome caused by activating mutations in the gene encoding phosphodiesterase 3A. These mutations increase the protein kinase A-mediated phosphorylation of phosphodiesterase 3A resulting in enhanced cAMP-hydrolytic affinity and accelerated cell proliferation. The phosphorylated vasodilator-stimulated phosphoprotein is diminished, and parathyroid hormone-related peptide is dysregulated, potentially accounting for all phenotypic features.

Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases.

Background: Coarctation of the aorta (CoA) accounts for 5-8% of all congenital heart defects. CoA can be detected in up to 20% of patients with Ullrich-Turner syndrome (UTS), in which a part or all of one of the X chromosomes is absent. The etiology of non-syndromic CoA is poorly understood.

PDE3A mutations cause autosomal dominant hypertension with brachydactyly.

Cardiovascular disease is the most common cause of death worldwide, and hypertension is the major risk factor. Mendelian hypertension elucidates mechanisms of blood pressure regulation. Here we report six missense mutations in PDE3A (encoding phosphodiesterase 3A) in six unrelated families with mendelian hypertension and brachydactyly type E (HTNB).

Aortic arch obstruction neonates with biventricular physiology: left-open compared to closed inter-atrial communication during primary repair--a retrospective study.

Background: Leaving an inter-atrial communication (IAC) open for left atrial decompression is often recommended in neonates with aortic arch obstruction undergoing primary repair. In this study, outcomes in these patients were compared to those with intact atrial septum after repair.

Methods: Between 2000 and 2013, 53 consecutive neonates with severe aortic arch obstruction (hypoplasia: n = 45, interruption: n = 8) underwent primary repair from an anterior approach.

Aortic Arch Reconstruction in Neonates with Biventricular Morphology: Increased Risk for Development of Recoarctation by Use of Autologous Pericardium.

Background: The aim of this study was to analyze risk factors promoting development of recoarctation (Re-CoA) in neonates who survived aortic arch repair from an anterior approach.

Methods: Fifty consecutive neonates with biventricular morphology and ductal-dependent lower body perfusion who were discharged home following aortic arch repair with cardiopulmonary bypass between 2000 and 2012 were retrospectively reviewed. Arch anatomy was either interruption (n = 10) or hypoplasia with coarctation (n = 40).

Feasibility and related outcome of intraluminal pulmonary artery banding.

Objectives: This retrospective study evaluated the feasibility and related outcome of intraluminal pulmonary artery banding (I-PAB).

Methods: Thirty-two children underwent I-PAB between July 2006 and April 2014. The median age and weight were 60 days (range: 5 days to 4.

Rare variants in NR2F2 cause congenital heart defects in humans.

Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome sequencing in 13 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2, a very significant enrichment (p = 7.

Troponin I levels in extracorporeal membrane oxygenation following congenital heart surgery.

Background: Correlating postcardiotomy extracorporeal membrane oxygenation (ECMO) troponin I (TnI) levels and outcomes.

Methods: Between January 2006 and August 2010, 34 patients needed postcardiotomy ECMO for low cardiac output. Bailout ECMO was required either after unsuccessful weaning from bypass (n = 17, 50%), postoperatively from prolonged hemodynamic failure (n = 8, 23.

A common genetic variant within SCN10A modulates cardiac SCN5A expression.

Variants in SCN10A, which encodes a voltage-gated sodium channel, are associated with alterations of cardiac conduction parameters and the cardiac rhythm disorder Brugada syndrome; however, it is unclear how SCN10A variants promote dysfunctional cardiac conduction. Here we showed by high-resolution 4C-seq analysis of the Scn10a-Scn5a locus in murine heart tissue that a cardiac enhancer located in Scn10a, encompassing SCN10A functional variant rs6801957, interacts with the promoter of Scn5a, a sodium channel-encoding gene that is critical for cardiac conduction. We observed that SCN5A transcript levels were several orders of magnitude higher than SCN10A transcript levels in both adult human and mouse heart tissue.

Impaired myocardial performance in a normotensive rat model of intrauterine growth restriction.

Background: Intrauterine growth restriction (IUGR) is an important risk factor for cardiovascular disease. Previous studies revealed altered myocardial matrix composition after IUGR. We hypothesized that IUGR is accompanied by compromised myocardial performance independently from arterial hypertension.

Childhood hypertension in autosomal-dominant hypertension with brachydactyly.

Affected individuals with autosomal-dominant hypertension with brachydactyly syndrome develop severe progressive hypertension and, if left untreated, develop stroke by age <50 years. In 1996 we described hypertension and brachydactyly and presented data on adults. We recently revisited this family and performed further studies, focusing particularly on the children in this family.