Blood culture negative infective endocarditis in adult congenital heart disease patients with prosthetic grafts: a case series.

BACKGROUND: Blood culture negative infective endocarditis (BCNIE) is often a diagnostic challenge in adult congenital heart disease patients leading to misdiagnosis, treatment delay and associated high mortality. Studies of BCNIE in adult congenital heart disease patients repaired with prosthetic cardiovascular grafts are limited. CASE SUMMARY: We report two cases of BCNIE where serology testing, multiple polymerase chain reaction testing of explanted valve material and multi-modality imaging including 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) were utilized not only to confirm the diagnosis but also to guide management strategy and inform prognosis. Both patients were treated successfully with cardiac surgery and prolonged anti-microbial therapy. DISCUSSION: Clinical presentation of BCNIE in repaired CHD patients is highly variable. The symptoms are often non-specific with subacute or chronic presentation. This may mislead initial diagnosis and subsequent management. Multi-modality imaging including PET/CT should be considered to support the diagnosis, define the extent of infection, decide the management strategy and inform prognosis in patients. A thorough history of animal exposure, and consideration of serology and multiple molecular testing to identify the causative organism, is critical in the management of BCNIE.

Giant aneurysms associated with aortic coarctation: management challenges and options.

The management of giant aneurysms associated with aortic coarctation is challenging. The location, the size of the aneurysm, whether it has ruptured, previous coarctation repair, the presence of stenosis, and the ascending and distal aortic pathology will all influence the treatment approach. With more patients surviving to adulthood after early coarctation repair, a better understanding of the anatomy, pathophysiology, and radiological findings of coarctation-related aneurysms is imperative to providing sound care. We present here our experience with a series of giant aneurysms of the aorta, all with a background of underlying aortic coarctation. We highlight the decision-making process and review current management trends.

A case series of three patients with unilateral disconnected pulmonary artery supplied by an ipsilateral patent ductus arteriosus: neonatal ductal stenting as palliation to preserve pulmonary arterial patency.

BACKGROUND: Disconnected branch pulmonary arteries with a systemic arterial origin of the disconnected vessel is a rare, but well-described entity. Most will have ductal tissue connecting the pulmonary artery to the aorta. CASE SUMMARY: We describe in this paper the haemodynamic result in three neonates presenting with ductal origin of a single branch pulmonary artery in the context of trans-catheter stenting procedures to maintain or re-recruit vessel patency. All were faced with potential or actual ductal closure and proceeded to trans-catheter stenting to re-cannalate the duct-dependent pulmonary artery. Two patients with otherwise normal anatomy struggled post-procedure with pulmonary hypertension and right ventricular dilatation. Both required surgical re-anastomosis of the disconnected pulmonary artery during the same admission-one 26 days post-stenting following failure to wean from high-flow respiratory support and the second 8 days post-stenting following failed extubation. In contrast, a patient with tetralogy of Fallot born at 2.5 kg underwent sequential stenting of the right ventricular outflow tract and then the left-sided ductus. He had a good post-procedural course and thrived for several months before complete repair. DISCUSSION: We describe the clinical courses and discuss the resultant haemodynamics, highlighting the importance of flow to each lung, the resulting haemodynamic implications and the compounding effects of additional lesions.

Renal function of patients with a failing Fontan circuit undergoing total cavopulmonary revision surgery.

This report characterizes renal dysfunction after total cavopulmonary (TCPC) revision surgery for atriopulmonary Fontan (APF) circulations, a known risk factor for a poor outcome. The perioperative data for 23 consecutively identified patients were reviewed. The preoperative mean glomerular filtration rate (GFR) was 101 +/- 30 ml/min/1.73 m(2), decreasing to 65 +/- 41 ml/min/1.73 m(2) early in the postoperative period. The preoperative GFR was highly correlated with age at APF (r = -0.5; p = 0.024), age at TCPC (r = -0.5; p = 0.01), and mixed venous saturation (r = 0.6; p = 0.01). Three of four patients requiring renal replacement therapy (RRT) died at a median age of 3 months (range, 18 days to 9 months). Determinants of early GFR and RRT were preoperative GFR (p = 0.016) and creatinine (p = 0.035). Younger age at primary Fontan (p = 0.008), higher preoperative mixed venous saturation (p = 0.019), and higher preoperative blood pressure (p = 0.006) independently predicted better GFRs at the latest follow-up evaluation. Renal function declines acutely after TCPC revision, often necessitating RRT. A requirement for RRT marks greater mortality. Higher preoperative creatinine levels identify those at greatest risk.

Valve-sparing aortic root replacement in adult patients previously operated for congenital heart defects: an initial experience.

OBJECTIVES: To review our experience with valve-sparing aortic root replacement (VSARR) in adult patients after the previous surgery for congenital heart disease. METHODS: From August 2008 to February 2014, 11 patients (mean age: 30.5 ± 7.7 years), previously operated for various congenital cardiac defects, mostly conotruncal lesions, underwent VSARR for progressive aortic root dilatation. Five patients had also developed moderate, and 1 patient severe aortic valve (AoV) insufficiency. All aortic root procedures were performed by the same operating surgeon in two institutions. The mean interval between the initial procedure and aortic root surgery was 25.7 ± 7.7 years. At the time of reoperation, the mean aortic root diameter was 53.4 ± 6.2 mm. The reimplantation technique (David procedure) was used in all patients. Seven patients underwent concomitant procedures. The median follow-up was 32 months (range 12-78 months). RESULTS: No mortality occurred in hospital or during the follow-up period. Ten patients remain in NYHA functional class I; 1 patient with a single-ventricle circulation is in NYHA functional class II. During the immediate postoperative period, 2 patients underwent drainage of a pericardial collection and 1 patient required renal replacement therapy with eventual full recovery of renal function. No other reoperations or reinterventions were needed during the follow-up period. The most recent echocardiogram in 10 patients have demonstrated no or trivial AoV insufficiency. One patient, however, with severe aortic insufficiency preoperatively, developed mild AoV regurgitation shortly after the operation, which has progressed to moderate regurgitation 1 year following the operation. CONCLUSIONS: Analysis of our experience in a small group of patients confirms that valve-sparing aortic root surgery can be safely performed in adult congenital patients presenting with progressive aortic root dilatation following their previous surgery. Although we have analysed patients with different original congenital cardiac lesions and the follow-up period is not long, we can conclude that the use of the reimplantation technique (David procedure) have resulted in overall satisfactory AoV function at follow-up. Longer follow-up with larger series will be needed, however, before firm conclusions can be drawn.

Direct measurement of porto-systemic gradient in a failing Fontan circulation.

We describe the case history of a 42-year-old man with cardiac cirrhosis, portal hypertension, and life-threatening variceal bleeding after Fontan revision surgery. Direct pressure measurements in the portal vein, though high, demonstrated only a modest portosystemic gradient (PSG), 9 mm Hg. A transjugular intrahepatic portosystemic shunt procedure was performed. This reduced the PSG (3 mm Hg). His bleeding was controlled. The patient's histopathological findings were identical to that previously documented in Fontan patients, raising the question of whether these subdiaphragmatic hemodynamics are representative of the broader failing Fontan population.

Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings.

The phenotypes associated with subtle deletions of the subtelomeric regions of many chromosomes have been reported. This is a detailed description of the clinical characteristics of two children with subtelomeric deletions of the long arm of chromosome 11 that were not apparent on the initial karyotype. We compare and contrast these with the clinical characteristics of a patient with a cytogenetically visible terminal 11q deletion, who shares similar craniofacial characteristics. All three suffered from moderate learning disability. Subtelomeric 11q deletions can be associated with mild-to-moderate learning difficulties and specific facial features, namely hypertelorism, down-slanting palpebral fissures and ptosis.

Cardiac defibrillation therapy for at risk patients with systemic right ventricular dysfunction secondary to atrial redirection surgery for dextro-transposition of the great arteries.

AIM: To review techniques of implantable cardioverter-defibrillators (ICD) in patients after Mustard surgery for arterial transposition. METHODS AND RESULTS: Retrospective analysis of all Mustard patients receiving ICDs at our institution. Five patients (median age 24 years, range 19-35, 3 male) with systemic right ventricular dysfunction (sRV) dysfunction and New York Heart Association (NYHA) II and III, received ICDs. Implantation was performed transvenously in three patients, epicardial patches and subcutaneous arrays at surgery in two patients. Two patients required lead extraction and baffle stent angioplasty before ICD implantation. Defibrillation vectors incorporating the anterior sRV mass [i.e., sub-pulmonary left ventricle (pLV) to generator can, and between epicardial defibrillator patches], consistently achieved a minimum 10 joule(J) safety margin during defibrillation threshold (DFT) testing. Subcutaneous arrays and endocardial vectors that included a superior vena cava (SVC) electrode were less effective. One patient developed pulmonary oedema post-procedure. At a median 20 months, all patients were alive and in NYHA class II. Follow-up over 24 months documented multiple non-sustained ventricular tachycardia (VT) in the group and one patient had recurrent VT with aborted device therapy. CONCLUSION: Defibrillator implantation in Mustard patients is challenging. Sub-optimal defibrillation should be anticipated and can be overcome using vectors which integrate the RV mass and high-energy devices. A staged procedure involving pre-implant interventions or separate DFT tests, where indicated, may be better tolerated by patients.

Crohn's disease post-cardiac transplantation presenting with severe growth failure and delayed onset of puberty.

We report a 15 yr-old girl who 10 yr post-cardiac transplantation presented with severe growth failure and delayed onset of puberty. She was found to have pan-enteric Crohn's disease and has done remarkably well on principally nutritional therapy with a significant growth spurt and the onset of menarche. The development of bowel disease whilst on immunosuppression is rare and the literature is reviewed.

Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis.

Hypoplastic left heart is a severe human congenital heart defect characterized by left ventricular hypoplasiawith aortic and mitral valve atresia. A genetic etiology is indicated by an association of the hypoplastic left heart phenotype with terminal 11q deletions that span approximately 20 Mb (distal to FRA11B in 11q23). Here we define the breakpoints in four patients with heart defects in association with distal 11q monosomy and refine the critical region to an approximately 9-Mb region distal to D11S1351. Within this critical region we have identified JAM3, a member of the junction adhesion molecule family, as a strong candidate gene for the cardiac phenotype on the basis that it is expressed during human cardiogenesis in the structures principally affected in hypoplastic left heart.