Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With .

Background: Familial Ebstein anomaly is a rare form of congenital heart disease. We report 7 individuals among 2 generations of 1 family with Ebstein anomaly. This family was first reported in 1991 by Balaji et al in which family members were also reported to have a mild skeletal phenotype.

Anatomical considerations for the management of a left-sided superior caval vein draining to the roof of the left atrium.

Unlabelled: Aims The pathophysiological entity of a persisting left-sided superior caval vein draining into the roof of the left atrium represents an extreme form of coronary sinus de-roofing. This is an uncommon, but well-documented condition associated with systemic desaturation due to a right-to-left shunt. Depending on the size of the coronary ostium, the defect may also present with right-sided volume loading.

Implementing transition: Ready Steady Go.

There is good evidence that morbidity and mortality increase for young persons (YP) following the move from paediatric to adult services. Studies show that effective transition between paediatric and adult care improves long-term outcomes. Many of the issues faced by young people across subspecialties with a long-term condition are generic.

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.

Defects in the oval fossa: morphologic variations and impact on transcatheter closure.

Background: Incomplete formation of the partition between the two atrial chambers in the region of the oval fossa results in a range of defects, which extend from patent foramen ovale to large secundum atrial septal defects (ASDs). There is wide variation in the morphology of the latter lesions. The spatial orientation of the margins of ASDs relative to the persisting flap valve is not easily definable with standard echocardiographic imaging.

The accuracy of three-dimensional echocardiography with multiplanar reformatting in the assessment of the aortic valve annulus prior to percutaneous balloon aortic valvuloplasty in congenital heart disease.

Objective: To review the use of three-dimensional echocardiography (3DE) with multiplanar reformatting (MPR) in children with congenital aortic stensosis undergoing percutaneous balloon aortic valvuloplasty to assess its accuracy in measuring the aortic valve annulus and any influence it may have on balloon sizing.

Methods: All percutaneous aortic balloon valvuloplasties performed from 01/01/2009 to 01/09/2011 were included in the study. All imaging performed for the procedure to determine the size of the aortic valve annulus and aid in balloon sizing was reviewed.

Midterm evaluation of biological prosthetic valves in the pulmonary position of grown-up patients.

Objectives: To examine the midterm clinical outcome of pulmonary valve replacement (PVR) with prosthetic valves.

Methods: We reviewed 37 consecutive patients who underwent PVR with biological prosthetic valves between September 1999 and June 2010. The median age was 22.

Primary biventricular repair of atrioventricular septal defects: an analysis of reoperations.

Background: The purpose of this study was to analyze the factors affecting reoperation after primary biventricular atrioventricular septal defect (AVSD) repair.

Methods: Between April 1997 and April 2007, 93 consecutive patients underwent surgery for biventricular correction of AVSD with a median age of 5.8 months (range, 9 days to 68.

Arterialised hepatic nodules in the Fontan circulation: hepatico-cardiac interactions.

Hypervascular nodules occur commonly when there is hepatic venous outlet obstruction. Their nature and determinants in the Fontan circulation is poorly understood. We reviewed the records of 27 consecutive Fontan patients who had computerized tomography scan (CT) over a 4 year period for arterialised nodules and alterations in hepatic flow patterns during contrast enhanced CT scans and related these findings to cardiac characteristics.

Long-term follow-up after primary complete repair of common arterial trunk with homograft: a 40-year experience.

Background: We sought to determine the long-term performance of homograft and truncal valve after complete repair of common arterial trunk.

Methods: From January 1964 to June 2008, 32 patients (median age, 14 days; range, 5 days to 2.5 years) underwent primary homograft repair of common arterial trunk.

Sildenafil therapy in complex pulmonary atresia with pulmonary arterial hypertension.

Background: Complex pulmonary atresia (CPA) i.e. pulmonary atresia with ventricular septal defect and major aorto-pulmonary collaterals (MAPCAs) or Tetralogy of Fallot with MAPCAs frequently have a clinical course complicated by development of pulmonary arterial (PA) hypertension.

Medium term outcome for infant repair in tetralogy of Fallot: Indicators for timing of surgery.

Objective: To assess the impact of early corrective surgery on the short and medium term outcome in tetralogy of Fallot (TOF).

Materials And Methods: All patients under 12 months of age undergoing correction of isolated TOF between February 1997 and July 2003 were reviewed retrospectively. Outcome data for mortality, post-operative care management, major morbidity and clinical follow-up were analysed.

Sildenafil therapy for pulmonary arterial hypertension associated with atrial septal defects.

Background: There is increasing evidence for beneficial effects of the type 5 phosphodiesterase inhibitor, sildenafil, in idiopathic pulmonary arterial hypertension (PAH). The effects of sildenafil in severe PAH associated with an atrial septal defect (ASD) have not been clearly delineated.

Methods: This extended case series reviews our experience with sildenafil treatment in three patients with severe PAH and Eisenmenger syndrome associated with an ASD.

Hepatic changes in the failing Fontan circulation.

Background: The failing Fontan circulation is associated with hepatic impairment. The nature of this liver injury is poorly defined.

Objective: To establish the gross and histological liver changes of patients with Fontan circulation relative to clinical, biochemical and haemodynamic findings.

Correlations with operative anatomy of real time three-dimensional echocardiographic imaging of congenital aortic valvar stenosis.

Objective: To define the anatomic characteristics of the congenitally malformed and severely stenotic aortic valve using trans-thoracic real time three-dimensional echocardiography, and to compare and contrast this with the valvar morphology as seen at surgery.

Design: Prospective cross-sectional observational study.

Setting: Tertiary centre for paediatric cardiology.

New technique for fenestration of the interatrial septum.

Achieving controlled flow between the systemic and pulmonary venous circulations is desirable in many complex congenital heart diseases. This includes the Fontan circulation, primary pulmonary hypertension, double inlet ventricles, or hypoplastic left heart with obstruction to the atrioventricular valve. As no specific device is available for this purpose, we developed a balloon-mounted stent technique to achieve a predetermined-sized fenestration of an atrial baffle in a patient with Fontan circulation.

Esmolol-assisted balloon and stent angioplasty for aortic coarctation.

The objective of this study was to evaluate the effectiveness and safety of esmolol-induced negative ino- and chronotropism during stent/balloon angioplasty for aortic coarctation. Balloon angioplasty and stent placement have become widely accepted therapies for native and recurrent coarctation of the aorta (CoA). Trauma to the vessel wall and stent migration related to forward displacement of the balloon and/or stent by cardiac output, are the most common complications.

HELEX Septal Occluder for transcatheter closure of patent foramen ovale: multicentre experience.

Aims: Patients with cryptogenic embolic events and a patent foramen ovale (PFO) are at risk of paradoxical embolism causing recurrent cerebral events; however, transcatheter PFO closure remains controversial. The aim of this multicentre trial was to demonstrate the feasibility and safety of transcatheter closure of PFO with the HELEX Septal Occluder.

Methods And Results: The study enrolled 128 patients (66 female; mean age, 50 years).

Annuloplasty of the regurgitant mitral valve after myocarditis in children.

Acute myocarditis is characterized by the development of rapid life-threatening congestive heart failure and arrhythmias. In many cases with hemodynamic compromise, medical therapy and mechanical support alone are not sufficient. Various surgical procedures have been tried to bridge patients with myocarditis to both transplant and recovery.

Intrapericardial giant left atrial appendage.

Contrary to what the name implies, the left atrial appendage is increasingly becoming an organ of clinical importance. Its role in the pathogenesis of thromboembolism is now well established. Enlargement of the appendage due to haemodynamic disturbances or anatomic weakness increases this risk, along with the potential for arrhythmia.

A novel use of atrial septostomy and stent implantation in a patient with complex cyanotic congenital heart disease and severe pulmonary hypertension.

Patients with unpalliated complex cyanotic congenital heart may have significant morbidity resulting from severe pulmonary hypertension. In late stages, medical management is often difficult, and worsening right heart failure is resistant to medication. The risk of complications and early death can be averted by detailed evaluation and prompt intervention to identify the reversible elements that compound their physiology.

Reoperations and survival after primary repair of congenital heart defects in children.

Objective: The objective of this article is to evaluate the incidence of reoperation and the associated risk and survival after primary repair of congenital heart defects using cardiopulmonary bypass in children.

Methods: We present a retrospective analysis of 1220 consecutive children under 16 years [649 (53%) under 1 year] operated on between 1976 and 2001 by 1 surgeon (J.L.