Aorta Without Coronary Arteries: Anatomic Variants of a Rare Malformation.

Absence of connection of both coronary arteries to the aorta is an extremely rare congenital malformation. Most cases reported are anatomic variants of anomalous left coronary artery to pulmonary artery, found in isolation or in association with other congenital heart defects. We describe here four cases of patients born without any coronary artery connected to the aorta, including two with an almost complete absence of epicardial coronary arteries, one with single coronary artery to the right pulmonary artery, and one with left ventricular connection of a single coronary artery. Those exceptional coronary malformations have a poor prognosis and are often diagnosed at autopsy. Total absence of epicardial coronary arteries, present in two of our patients and described only once in the literature, leads us to reconsider current knowledge of human coronary artery development.

Cardiovascular events in perimembranous ventricular septal defect with left ventricular volume overload: a French prospective cohort study (FRANCISCO).

The long-term prospective multi-centre nationwide (French) observational study FRANCISCO will provide new information on perimembranous ventricular septal defect with left ventricular overload but no pulmonary hypertension in children older than 1 year. Outcomes will be compared according to treatment strategy (watchful waiting, surgical closure, or percutaneous closure) and anatomic features of the defect. The results are expected to provide additional guidance about the optimal treatment of this specific population, which is unclear at present. BACKGROUND: The management of paediatric isolated perimembranous ventricular septal defect (pmVSD) with left ventricle (LV) volume overload but no pulmonary arterial hypertension (PAH) remains controversial. Three therapeutic approaches are considered: watchful waiting, surgical closure, and percutaneous closure. We aim to investigate the long-term outcomes of these patients according to anatomic pmVSD characteristics and treatment strategy. METHODS: The Filiale de Cardiologie Pediatrique et Congénitale (FCPC) designed the FRANCISCO registry, a long-term prospective nationwide multi-centre observational cohort study sponsored by the French Society of Cardiology, which enrolled, over 2 years (2018­2020), patients older than 1 year who had isolated pmVSD with LV volume overload. Prevalent complications related to pmVSD at baseline were exclusion criteria. Clinical, echocardiographic, and functional data will be collected at inclusion then after 1, 5, and 10 years. A core lab will analyse all baseline echocardiographic data to depict anatomical pmVSD features. The primary outcome is the 5-year incidence of cardiovascular events (infective endocarditis, sub-aortic stenosis, aortic regurgitation, right ventricular outflow tract stenosis, tricuspid regurgitation, PAH, arrhythmia, stroke, haemolysis, heart failure, or death from a cardiovascular event). We plan to enrol 200 patients, given the 10% estimated 5-year incidence of cardiovascular events with a 95% confidence interval of ±5%. Associations linking anatomical pmVSD features and treatment strategy to the incidence of complications will be assessed. CONCLUSIONS: The FRANSCICO study will provide the long-term incidence of complications in patients older than 1 year with pmVSD and LV volume overload. The results are expected to improve guidance for treatment decisions.

Position paper concerning the competence, performance and environment required for the practice of ablation in children and in congenital heart disease.

The population of patients with congenital heart disease (CHD) is continuously increasing, and a significant proportion of these patients will experience arrhythmias because of the underlying congenital heart defect itself or as a consequence of interventional or surgical treatment. Arrhythmias are a leading cause of mortality, morbidity and impaired quality of life in adults with CHD. Arrhythmias may also occur in children with or without CHD. In light of the unique issues, challenges and considerations involved in managing arrhythmias in this growing, ageing and heterogeneous patient population and in children, it appears both timely and essential to critically appraise and synthesize optimal treatment strategies. The introduction of catheter ablation techniques has greatly improved the treatment of cardiac arrhythmias. However, catheter ablation in adults or children with CHD and in children without CHD is more technically demanding, potentially causing various complications, and thus requires a high level of expertise to maximize success rates and minimize complication rates. As French recommendations regarding required technical competence and equipment are lacking in this situation, the Working Group of Pacing and Electrophysiology of the French Society of Cardiology and the Affiliate Group of Paediatric and Adult Congenital Cardiology have decided to produce a common position paper compiled from expert opinions from cardiac electrophysiology and paediatric cardiology. The paper details the features of an interventional cardiac electrophysiology centre that are required for ablation procedures in adults with CHD and in children, the importance of being able to diagnose, monitor and manage complications associated with ablations in these patients and the supplemental hospital-based resources required, such as anaesthesia, surgical back-up, intensive care, haemodynamic assistance and imaging. Lastly, the need for quality evaluations and French registries of ablations in these populations is discussed. The purpose of this consensus statement is therefore to define optimal conditions for the delivery of invasive care regarding ablation of arrhythmias in adults with CHD and in children, and to provide expert and - when possible - evidence-based recommendations on best practice for catheter-based ablation procedures in these specific populations.

Nakata index above 1500 mm2/m2 predicts death in absent pulmonary valve syndrome.

OBJECTIVES: Absent pulmonary valve syndrome is a rare congenital heart disease with severe airway compression due to dilatation of the pulmonary arteries (PAs). We investigated risk factors for death and prolonged mechanical ventilation (>7 days) and a threshold PA size for these outcomes. METHODS: This retrospective 2-centre cohort study included 68 patients with complete repair between January 1996 and December 2015. RESULTS: Median age at repair was 3.9 months (1.3-8.7 months), and median weight was 5 kg (4-7 kg). The mortality rate before hospital discharge was 12%, and the mortality rate at last follow-up was 19%. In multivariable analysis, risk factors for death were higher Nakata index [hazard ratio (HR) 1.001, 95% confidence interval (CI) 1.001-1.002; P < 0.001] and lower SpO2 (HR 1.06, 95% CI 1.02-1.09; P = 0.002). The accuracy of the Nakata index to predict death was excellent (area under the curve at 6 months: 0.92; P = 0.010). A Nakata index above 1500 mm2/m2 predicted mortality at 6 months with a sensitivity of 98% and a specificity of 82%. Twenty-five patients (37%) had prolonged mechanical ventilation. The only multivariable risk factor for prolonged ventilation was lower weight at repair (odds ratio 2.9, 95% CI 1.3-6.7; P = 0.008). Neither PA plasty nor the LeCompte manoeuvre had a protective effect on mortality or prolonged ventilation. A Nakata index above 1500 mm2/m2 remained a risk factor for mortality (P = 0.022) in patients who had a PA plasty or the LeCompte manoeuvre. CONCLUSIONS: In patients with absent pulmonary valve syndrome, the Nakata index predicts mortality with a cut-off of 1500 mm2/m2. Lower weight at repair is the only multivariable risk factor for prolonged ventilation. Neither PA plasty nor the LeCompte manoeuvre had a protective effect on these outcomes.

Transcatheter pulmonary valvuloplasty in neonates with pulmonary atresia and intact ventricular septum.

BACKGROUND: Transcatheter pulmonary valvuloplasty in neonates with pulmonary atresia and intact ventricular septum (PA-IVS) or duct-dependent pulmonary valve stenosis (DD-PVS) has become a reasonable alternative to surgical right ventricle decompression. AIM: To investigate mid-term outcomes following pulmonary valvuloplasty. METHODS: Sixty-five neonates with PA-IVS (n=29) or DD-PVS (n=36) (median age 4 days; mean weight 3.0kg) undergoing pulmonary valvuloplasty were reviewed retrospectively. Procedural data and clinical outcomes were assessed. RESULTS: Pulmonary valvuloplasty was successful in 59 patients (90.8%). Preterm birth, larger tricuspid valve annulus diameter and PA-IVS correlated with procedural failure. Eleven patients (18.6%) required a Blalock-Taussig shunt during early follow-up, despite valvuloplasty. These neonates had smaller tricuspid and pulmonary valve annulus Z-scores (-1.9 vs. -0.8 [p=0.04] and -2.5 vs. -0.9 [P=0.005], respectively) and a higher incidence of "bipartite" right ventricle (P=0.02). Mean follow-up was 5.4±3.3 years. Mortality after successful valvuloplasty was 8.5% (n=5). Among the 54 survivors, biventricular repair was achieved in 52 patients (96.3%), including nine with a previous Blalock-Taussig shunt. The cumulative rate of subsequent surgery (excluding Blalock-Taussig shunt) was 13.7% (95% confidence interval 6.8-26.7%) and 16.4% (95% confidence interval 8.5-30.4%) at 2 and 4 years, respectively. Secondary surgery was significantly more frequent in PA-IVS compared with DD-PVS, and in neonates with a Blalock-Taussig shunt (P=0.003 and 0.01, respectively). CONCLUSIONS: Selected neonates with DD-PVS or PA-IVS managed by transcatheter pulmonary valvuloplasty had a good mid-term outcome. In neonates with a borderline small right ventricle, a hybrid strategy with a supplementary source of pulmonary blood flow can be efficient to achieve biventricular repair.

Neonatal management and outcomes of prenatally diagnosed CHDs.

OBJECTIVES: The aim of this study was to determine the probability of intervention at birth after prenatal diagnosis of CHD. METHODS: A 10-year retrospective study including all foetuses with a prenatally diagnosed CHD and those delivered in a tertiary-care cardiac centre between January, 2002 and December, 2011 was carried out. Patients were classified into eight groups according to the anticipated risk of neonatal intervention. RESULTS: The need for urgent intervention and/or PGE1 infusion within the first 48 hours of life was 47% (n=507/1080): 72% (n=248) for CHD at risk for a Rashkind procedure, 77% (n=72) for CHD with ductal-dependent pulmonary flow, 13% (n=22) for CHD with potentially ductal-dependent pulmonary flow, 94% (n=62) for CHD with ductal-dependent systemic flow, 29% (n=88) for CHD with potentially ductal-dependant systemic flow, 50% (n=4) for total anomalous pulmonary venous connection, and 17% (n=1) for CHD with atrio-ventricular block. In all, 34% of the patients received PGE1 infusion and 21.4% underwent urgent catheter-based or surgical interventions; 10% of patients without anticipated risk (n=10) underwent an early intervention; 6.7% (n=73) of the patients died; and 55% (n=589) had an intervention before discharge from hospital. CONCLUSION: Half of the neonates with foetal CHD benefited from an urgent intervention or PGE1 infusion at birth. We recommend scheduled delivery and in utero transfer for transposition of the great arteries, double-outlet right ventricle with sub-pulmonary ventricular septal defect, total anomalous pulmonary venous connection, CHD with atrio-ventricular block with heart rate <50, all ductal-dependant lesions, and CHD with potentially ductal-dependant systemic flow.

Long-term outcomes of pulmonary arterial hypertension under specific drug therapy in Eisenmenger syndrome.

BACKGROUND: The long-term effectiveness of pulmonary arterial hypertension-specific drug therapy (PAH-SDT) in Eisenmenger syndrome is controversial. We investigated short-term and long-term hemodynamic changes under PAH-SDT and their associations with outcomes in a bicentric cohort. METHODS: Over 20 years, we included 69 patients with congenital heart disease, an indexed pulmonary vascular resistance (PVRi) >8 WU·m2, and 292 standardized catheterizations at baseline and after PAH-SDT initiation or intensification. Oxygen consumption was measured and the Fick principle applied to calculate indexed pulmonary output (Qpi) and PVRi. RESULTS: After PAH-SDT initiation or intensification, median (interquartile range) PVRi decrease was 5.1 WU·m2 (-1.4, -12.6) (p < 0.0001). Median Qpi and 6-minute walk test increases were +0.4 liter/min/m2 (0.0, +0.9) (p < 0.0001) and +49 m (+15, +93) (p = 0.0003), respectively. Hemodynamic response combining increased Qpi with decreases in transpulmonary gradient and PVRi occurred in 68.0% of patients. After a median of 4.9 years, PVRi and Qpi changes were no longer significant. Over a median of 7.2 years, 23 (33.3%) patients met a composite criterion (death, n = 8; heart-lung transplantation or listing for transplantation, n = 15). The 15-year cumulative event rate was 49.2%. By multivariate analysis, independent predictors of events were superior vena cava oxygen saturation and hemodynamic response (p = 0.048 and p < 0.0001). CONCLUSIONS: In Eisenmenger syndrome, PAH-SDT induces early hemodynamic improvements, which decline over time. Hemodynamic changes under PAH-SDT vary across patients. Hemodynamic parameters at baseline and under PAH-SDT are associated with events. PAH-SDT may need to be individualized based on hemodynamic changes.

Experts' recommendations for the management of cardiogenic shock in children.

Cardiogenic shock which corresponds to an acute state of circulatory failure due to impairment of myocardial contractility is a very rare disease in children, even more than in adults. To date, no international recommendations regarding its management in critically ill children are available. An experts' recommendations in adult population have recently been made (Levy et al. Ann Intensive Care 5(1):52, 2015; Levy et al. Ann Intensive Care 5(1):26, 2015). We present herein recommendations for the management of cardiogenic shock in children, developed with the grading of recommendations' assessment, development, and evaluation system by an expert group of the Groupe Francophone de Réanimation et Urgences Pédiatriques (French Group for Pediatric Intensive Care and Emergencies). The recommendations cover four major fields of application such as: recognition of early signs of shock and the patient pathway, management principles and therapeutic goals, monitoring hemodynamic and biological variables, and circulatory support (indications, techniques, organization, and transfer criteria). Major principle care for children with cardiogenic shock is primarily based on clinical and echocardiographic assessment. There are few drugs reported as effective in childhood in the medical literature. The use of circulatory support should be facilitated in terms of organization and reflected in the centers that support these children. Children with cardiogenic shock are vulnerable and should be followed regularly by intensivist cardiologists and pediatricians. The experts emphasize the multidisciplinary nature of management of children with cardiogenic shock and the importance of effective communication between emergency medical assistance teams (SAMU), mobile pediatric emergency units (SMUR), pediatric emergency departments, pediatric cardiology and cardiac surgery departments, and pediatric intensive care units.

Pulmonary Hypertension in the Preterm Infant with Chronic Lung Disease can be Caused by Pulmonary Vein Stenosis: A Must-Know Entity.

Pulmonary hypertension (PHT) in the preterm infant is frequently due to chronic lung disease. Rarely, PHT can be caused by pulmonary vein (PV) stenosis that has been described to be associated with prematurity. This study is a retrospective analysis of all premature infants <37 weeks of gestation with PV stenosis and PHT in two French pediatric congenital cardiac centers from 1998 till 2015. Diagnosis, hemodynamics and outcome are described. Sixteen patients met the inclusion criteria. Median gestational age was 28 weeks (25 + 6-35) with a median birth weight of 842 g (585-1500). The majority of infants (87.5 %) had chronic lung disease and associated cardiac defects. Median age at diagnosis was 6.6 months (1.5-71). Fifty-six percentage (n = 9) had initially unilateral PV stenosis affecting in 89 % the left PV. Median initial invasive mean pulmonary artery pressure was 42 mmHg (25-70). Treatment options included surgical intervention (n = 6), interventional cardiac catheter (n = 3) and/or targeted therapy for pulmonary arterial hypertension (n = 5). In six patients, decision of nonintervention was taken. Global mortality was 44 %. All deaths occurred within 7 months after diagnosis regardless of chosen treatment option. Mean follow-up was 6 years (4.9 months-12 years). At last visit, all eight survivors were in stable clinical condition with five of them receiving targeted therapy for pulmonary arterial hypertension. PV stenosis is an unusual cause of PHT in the premature infant with chronic lung disease. Diagnosis is challenging since initial echocardiography can be normal and the disease is progressive. Treatment options are numerous, but prognosis remains guarded.

Problems in the diagnosis of discordant atrioventricular with concordant ventriculo-arterial connections: anatomical considerations, surgical management, and long-term outcome.

BACKGROUND: Discordant atrioventricular with concordant ventriculo-arterial connections is a rare cardiac defect. When isolated, the haemodynamics resemble transposition of the great arteries. In complex heart defects such as heterotaxy, haemodynamics guide the surgical approach. OBJECTIVE: To report a series of eight patients with discordant atrioventricular and concordant ventriculo-arterial connections focussing on anatomical and diagnostic difficulties, surgical management, and follow-up. METHODS: A retrospective review was carried out from 1983 to 2013. Anatomical description was based on segmental analysis. Emphasis was placed on the venoatrial connections. RESULTS: Segmental arrangement was {I, D, S} in six patients, all with spiralling great vessels. There were two patients with parallel great vessels of whom one had {S, L, D} and the other had {S, L, A} arrangement. Of eight patients, five had heterotaxy syndrome. Median age at repair surgery was 1.4 years (with a range from 1.1 months to 8.1 years). The repair surgery finally performed was the atrial switch procedure in seven out of eight patients. The main post-operative complications were two cases of baffle obstruction and one sick sinus syndrome needing pacemaker implantation. There were two early post-operative deaths and six late survivors. Median follow-up was 4.2 years (with a range from 3.9 to 26.7 years) with good functional status in all survivors. Discussion Diagnosing discordant atrioventricular with concordant ventriculo-arterial connections remains challenging. There are ongoing controversies about the definition of atrial morphology and heterotaxy syndrome animating the anatomic discussion of these complex heart defects. Haemodynamically, the atrial switch procedure is the surgical method of choice with an encouraging long-term follow-up despite rhythm disturbances and baffle obstruction.

Critical Congenital Heart Diseases in Preterm Neonates: Is Early Cardiac Surgery Quite Reasonable?

Prematurity is a recognized risk factor for morbidity and mortality following cardiac surgery. Postoperative and long-term outcomes after cardiac surgery performed in the preterm period are poorly described. The aim of this study was to analyze a population of preterm neonates operated on for critical congenital heart disease (CHD) before 37 weeks of gestational age (wGA) with special attention given to early and late mortality and morbidity. Between 2000 and 2013, 28 preterm neonates (median gestational age (GA) 34.3 weeks) underwent cardiopulmonary bypass (CPB) surgery for critical CHD before 37 wGA; records were retrospectively reviewed. All patients except three with single ventricle physiology had a single-stage anatomic repair. Overall mortality was 43 % (95 % CI 25-62). Risk factors for death were birth weight (p = 0.032) and weight at surgery (p = 0.037), independently of GA, preoperative status, CPB and aortic clamp time. Seven patients, including those with univentricular hearts, died during the postoperative period, and five in the first year after surgery. Median follow-up was 5.9 years (range 1 month-12.8 years). Kaplan-Meier survival rate was 75 % (95 % CI 59-91) at 1 month, and 57 % (95 % CI 39-75) at 1 and 5 years. Eight patients required reoperations after a delay of 2.8 ± 1.3 months; eight had bronchopulmonary dysplasia. At the end of follow-up, nine patients were asymptomatic. One-stage biventricular repair for critical CHD on preterm neonates was feasible. Mortality remained high but acceptable, mainly confined to the first postoperative year and related to small weight. Despite reoperations, long-term clinical status was good in most survivors. Further long-term prospective investigations are necessary to evaluate neurodevelopmental outcomes.

Atrio-ventricular valve regurgitation in univentricular hearts: outcomes after repair†.

OBJECTIVES: The aim was to describe the early and mid-term outcome after atrio-ventricular valve (AVV) repair in patients with univentricular hearts (UVHs) and to identify risk factors for AVV reoperation and death. METHODS: This study is a retrospective review of patients undergoing valve repair for AVV regurgitation at any stage of univentricular palliation from 1998 to 2014. Patient- and procedure-related variables were analysed. RESULTS: A total of 31 consecutive patients underwent 38 procedures for ≥ moderate AVV regurgitation at a median age of 3.6 years. Thirty-two percent of patients had a common AVV, 26% had two AVVs, 22% had a dominant tricuspid valve and 19% had a dominant mitral valve. All patients underwent valve repair as a first procedure without early mortality. At discharge, patients preserved their ventricular function (fractional shortening <30%: preoperative 16% vs postoperative 22.5%, NS). In 19% (n = 6) of patients, the procedure was considered as failed because of significant residual regurgitation. There were three late deaths [median delay: 1 year (range 0.7-13.6)] and three heart transplantations. Six patients underwent seven AVV reoperations [median delay: 2 years (range 0.2-7.6)]. Longer intensive care stay (P = 0.022), longer total postoperative hospital stay (P = 0.039), higher total number of surgeries (P = 0.039), lower body mass index (P = 0.042) and higher preoperative mean pulmonary pressure (P = 0.047) were univariate risk factors for death/transplantation. Failed first AVV repair (P = 0.01), higher total number of surgeries (P = 0.026), lower body mass index (P = 0.031), male gender (P = 0.031) and need for valve repair before bidirectional cavopulmonary connection (P = 0.036) were univariate risk factors for AVV reoperation. In multivariate analysis, no univariate risk factor reached statistical significance. Freedom from death/transplantation was 84% (CI 95%: 70%-98%) at 5 and 10 years. Survival free from AVV reoperation was 72% (CI 95%: 52%-92%) at 5 years and 62% at 10 years (CI 95%: 36%-88%). Mean follow-up of survivors was 4.7 years (SD ± 4.3; range 0.2-15.6). At last visit, 96% of survivors were in NYHA Class I-II. Ninety-two percent had a ≤ mild residual regurgitation. CONCLUSIONS: In patients with a UVH and ≥ moderate AVV regurgitation, AVV repair is feasible without postoperative deterioration of their ventricular function. Nevertheless, these patients remain at increased risk for death/transplantation and AVV reoperation.

Myocardial inflammation on cardiovascular magnetic resonance predicts left ventricular function recovery in children with recent dilated cardiomyopathy.

AIMS: To analyse the predictive role of myocardial inflammation assessed by cardiac magnetic resonance (CMR) on the outcome of recently diagnosed dilated cardiomyopathy in children. METHODS AND RESULTS: Over a period of 4 years, 66 children underwent CMR within 2 weeks after the diagnosis of dilated cardiomyopathy. CMR sequences sensitive for oedema, hyperaemia, and irreversible injury were applied: unenhanced cine steady-state free precession (SSFP), black-blood-prepared T1-weighted images, T2-weighted images, gadolinium-enhanced T1-weighted images (EGE), and late gadolinium-enhanced (LGE) images. Inflammatory cardiomyopathy defined as the presence of at least two CMR criteria was diagnosed in 31/66 children (CMR positive) while no criterion was present in the remaining 33 (CMR-negative). Only two patients had one positive criterion and were excluded from subsequent analysis. After a mean follow-up of 24 months, LV function recovery (LV ejection fraction >55%) was more frequent in the CMR-positive group (24 vs. 11, P < 0.05). The presence of myocardial inflammation and elevated troponin levels at baseline were the two predictors of LV function recovery with an odds ratio of 3.76 (P = 0.02) and 2.76 (P = 0.03), respectively, in a logistic regression model. Persisting LGE was rare in patients of the CMR-positive group at control CMR (6/22) and was never observed in the CMR-negative group (0/16). CONCLUSION: The presence of myocardial inflammation on CMR at time of diagnosis of a dilated cardiomyopathy in children is a strong predictor of LV recovery.

Palliative Potts shunt for the treatment of children with drug-refractory pulmonary arterial hypertension: updated data from the first 24 patients.

OBJECTIVES: Palliative Potts shunt has been proposed in children with suprasystemic pulmonary arterial hypertension (PAH). METHODS: A retrospective multicentre study was performed to assess short- and long-term outcomes after Potts shunt. RESULTS: From 2003 to 2014, 24 children underwent a Potts shunt [19 surgical, median age: 7.7 years (1.5-17 years), median weight: 19.5 kg (10.2-47 kg) and 5 transcatheter, median age: 8.1 years (2.3-9.7 years), median weight: 22 kg (12.5-31 kg)] for drug-refractory PAH. For the first time in humans, we performed an unidirectional valved Potts anastomosis in a child with infrasystemic PAH on intravenous epoprostenol who experienced repeated central line infections. Severe postoperative complications occurred in 6 patients (25.0%, all from the surgical group) including 3 early deaths (12.5%) related to low cardiac output. After a median follow-up (FU) of 2.1 years (range, 3 months to 14.3 years, ≥8 years in 7 patients), World Health Organization (WHO) functional class was dramatically improved in the 21 survivors, all being in WHO-functional class 1 or 2 (P < 0.05); none experienced syncope during the FU; none had overt right ventricular failure; mean 6-min walk distance improved from 42.3 ± 10.0% to 81.2 ± 9.7% of adjusted values for age and sex (P < 0.001), BNP/NT-proBNP levels normalized in all; and weaning of intravenous epoprostenol was obtained in all patients who received triple combination as pre-Potts anastomosis therapy. Finally, all survivors caught up to normal growth curves. Arterial oxygen saturation gradient between upper and lower limbs persisted at the last FU (94.7 ± 3.6% vs 81.6 ± 5.1%, P < 0.001). One patient required double lung transplantation 6 years after a surgical Potts shunt. CONCLUSIONS: Palliative Potts shunt allows prolonged survival and dramatic, long-lasting improvement in functional capacities in children with severe, drug-refractory PAH. The Potts shunt might be considered as a first surgical or interventional step in the management of children with severe, drug-refractory PAH, leaving the door open for further lung transplantation, if needed.

Mitral disease: the real burden for Ross-Konno procedure in children.

BACKGROUND: Aortic valve replacement and management of complex left ventricular outflow tract obstruction in early life remains a surgical challenge. We assessed our experience with the Ross-Konno procedure. METHODS: Since 2000, 49 consecutive patients (24 neonates and infants) underwent the Ross-Konno procedure. Anatomic and clinical risk factors were analyzed. RESULTS: Median age was 12.2 months (0.0 to 194.4); 82% had previous valvotomy (surgical, n = 26; balloon, n = 7; balloon then surgical, n = 7) and 35% preceding arch repair (n = 17). Fifteen patients (31%) required concomitant procedures: mitral valve repair (n = 11), replacement (n = 1), endocardial fibroelastosis resection (n = 4), and aortic arch repair (n = 2). There were 5 hospital deaths (10.2%). Median follow-up was 63 ± 47 months. There were 4 late deaths (8.1%), all because of persistent pulmonary hypertension despite subsequent mitral procedures. Five-year actuarial survival and freedom from reoperation were 79.7% ± 6.1% and 68.6% ± 9.3%, respectively. Preoperative lower shortening fraction (p = 0.005) was associated with early mortality, while concomitant mitral surgery and pulmonary hypertension (p = 0.002) were associated with late mortality. Sixteen patients underwent 26 reoperations. Autograft function was normal in 30 of the 37 late survivors (81.1%), 4 (10.8%) had grade 2 regurgitation, and 3 (8.1%) required valve replacement. CONCLUSIONS: Ross-Konno in children remains a high-risk procedure. Preoperative ventricular dysfunction is associated with significant early mortality and should favor conservative options. Mitral involvement substantially affects late outcome, survival for these patients relies on the efficacy in relieving mitral disease. Efforts to improve mitral repair in these infants are critically required as an alternative to univentricular pathways.

Anomalous left coronary artery connected to the pulmonary artery associated with other cardiac defects: a difficult joint diagnosis.

Anomalous left coronary artery connected to the pulmonary artery (ALCAPA) can be associated rarely with other congenital heart defects. The preoperative joint diagnosis is challenging. From 1987 to 2012, a retrospective bicentric assessment of 12 patients with ALCAPA related to other cardiac defects focused on the associated heart defect, the moment of complete diagnosis related to surgery, and outcome. Coarctation was the most frequently associated heart defect (n = 5) followed by tetralogy of Fallot with or without pulmonary atresia (n = 3). The study group comprised one case of hypoplastic left heart syndrome, one right aortic arch, one congenital mitral malformation, and one infant with divided left atrium and anomalous pulmonary venous return. Only four patients had a complete diagnosis of both the cardiac defect and the coronary abnormality before surgery. In two cases, the coronary anomaly was discovered during surgery performed for another cardiac defect and treated at the same time. The diagnosis of the six remaining patients was determined after cardiac repair. Of the 12 patients, 7 (58 %) died after surgery. Half of these patients died within the first 30 days after repair. At this writing, the remaining patients are in good health after a median follow-up period of 5.4 years (range, 2.1-8.5 years). This study confirmed that ALCAPA associated with other cardiac defects often is misdiagnosed before surgery, mostly due to specific hemodynamics masking myocardial ischemia preoperatively. Survival was compromised due to the unrecognized diagnosis of an associated coronary abnormality but also because of midterm complications related to the other cardiac defects.

Transcatheter therapy in partially abnormal pulmonary venous return with additional drainage to the left atrium.

BACKGROUND: A persistent anastomosis between the pulmonary veins that connect with the left atrium and the systemic vein that drains into the right atrium has occasionally been reported. We report characteristics and transcatheter therapy in partially abnormal pulmonary venous return with additional drainage to the left atrium. METHODS: We retrospectively studied such patients in 5 institutions. RESULTS: Ten patients (6 girls) presented at a median age of 8 (0.1 to 54) years with 2 anatomic types: 8 vertical vein types with drainage of the left upper lobe to the innominate vein via a large vertical vein (left superior cardinal vein) and to the left atrium via the left upper pulmonary vein; and 2 scimitar vein (SV) types with drainage of the right middle and lower pulmonary veins into the inferior vena cava and to the left atrium via an anomalous connecting vein. Associated malformations were aortic coarctation (n=2) and secundum atrial septal defects (n=3). Two patients of the vertical vein type were operated. Transcatheter occlusion of the abnormal pulmonary venous return was performed in 7 cases, associated with occlusion of systemic arterial supply (n=2), secundum atrial septal closure (n=2), left upper pulmonary vein stenosis stenting (n=1), and coarctation stenting (n=1). Including previously published cases, 18 patients (13 vertical veins and 5 scimitar veins) underwent transcatheter repair. Patients over 40 years of age tend to be symptomatic at presentation (p=0.056). CONCLUSION: In partially abnormal pulmonary venous return with dual drainage, transcatheter therapy can be offered in the majority of patients.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient to cause CHD. Thus, additional genetic variation and/or environmental factors could contribute to the CHD risk. Here we report genomic variations that in concert with trisomy 21, determine the risk for CHD in DS. This case-control GWAS includes 187 DS with CHD (AVSD = 69, ASD = 53, VSD = 65) as cases, and 151 DS without CHD as controls. Chromosome 21-specific association studies revealed rs2832616 and rs1943950 as CHD risk alleles (adjusted genotypic P-values <0.05). These signals were confirmed in a replication cohort of 92 DS-CHD cases and 80 DS-without CHD (nominal P-value 0.0022). Furthermore, CNV analyses using a customized chromosome 21 aCGH of 135K probes in 55 DS-AVSD and 53 DS-without CHD revealed three CNV regions associated with AVSD risk (FDR ≤ 0.05). Two of these regions that are located within the previously identified CHD region on chromosome 21 were further confirmed in a replication study of 49 DS-AVSD and 45 DS- without CHD (FDR ≤ 0.05). One of these CNVs maps near the RIPK4 gene, and the second includes the ZBTB21 (previously ZNF295) gene, highlighting the potential role of these genes in the pathogenesis of CHD in DS. We propose that the genetic architecture of the CHD risk of DS is complex and includes trisomy 21, and SNP and CNV variations in chromosome 21. In addition, a yet-unidentified genetic variation in the rest of the genome may contribute to this complex genetic architecture.

Early neonatal death and congenital left coronary abnormalities: ostial atresia, stenosis and anomalous aortic origin.

BACKGROUND: Congenital left coronary artery abnormalities such as ostial stenosis or atresia are extremely rare. Diagnosis in the neonate has not been reported. AIMS: To describe five neonates with left coronary artery orifice abnormalities and discuss pathophysiology, diagnosis and treatment options, with a focus on the importance of autopsy in unexpected neonatal death. METHODS: Retrospective assessment of medical files of neonates with left coronary abnormalities seen during a 12-year period (2000-2012). RESULTS: Three neonates with anatomical (n=2) and functional (n=1) left coronary stenosis and two neonates with ostial atresia were identified. The three infants with coronary stenosis died within minutes to days after birth because of cardiac failure refractory to intensive care treatment; at autopsy, left coronary ostial stenosis (n=2) and high take-off with acute angle origin and tangential vertical course (n=1) were diagnosed. The fourth neonate was in cardiac failure due to critical aortic stenosis; left coronary ostial atresia was diagnosed during an emergency catheter procedure and the infant died after aortic valve dilatation. The fifth infant had a cardiac arrest on the third day of life; she was diagnosed with left coronary ostial atresia by coronary angiography and died during attempted revascularization surgery at 2 weeks of life. CONCLUSION: Congenital coronary ostial abnormalities can lead to severe heart failure and unexpected neonatal death. Systematic examination of the coronary arteries should be part of any neonatal autopsy. Coronary angiography remains the diagnostic method of choice despite advances in non-invasive imaging. Revascularization surgery seems indicated in symptomatic children based on small patient series.

The pattern of the coronary arterial orifices in hearts with congenital malformations of the outflow tracts: a marker of rotation of the outflow tract during cardiac development?

Outflow tract defects, including cardiac neural crest defects (so-called conotruncal defects) and transposition of the great arteries, are due to an abnormal rotation of the outflow tract during cardiac development. Coronary orifices are often abnormal in outflow tract defects, particularly in common arterial trunk (CAT). A recent study indicates that abnormal coronary artery pattern in a mouse model with common arterial outlet (Tbx1-/- mouse mutant) could be due to a reduced and malpositioned subpulmonary coronary-refractory myocardial domain. The aim of our study was to demonstrate the relation between coronary orifices pattern in outflow tract defects in human and the abnormal embryonic rotation of the outflow tract. We analyzed 101 heart specimens with outflow tract defects: 46 CAT, 15 tetralogy of Fallot (TOF), 29 TOF with pulmonary atresia (TOF-PA), 11 double-outlet right ventricle with subaortic ventricular septal defect (DORV) and 17 controls. The position of left and right coronary orifices (LCO, RCO) was measured in degrees on the aortic/truncal circumference. The anterior angle between LCO and RCO (α) was calculated. The LCO was more posterior in TOF (31 °), TOF-PA (47 °), DORV (44 °), CAT (63 °), compared with controls (0 °, P < 0.05), and more posterior in CAT than in other outflow tract defects (P < 0.05). The RCO was more anterior in TOF (242 °), TOF-PA (245 °) and DORV (271 °) than in controls (213 °, P < 0.05), but not in CAT (195 °). The α angle was similar in TOF, TOF-PA, DORV and controls (149 °, 162 °, 133 °, 147 °), but significantly larger in CAT (229 °, P < 0.0001). In all outflow tract defects but CAT, the displacement of LCO (anterior) and RCO (posterior), while the α angle remains constant, might be due to incomplete rotation of the myocardium at the base of the outflow tract, leading to an abnormally positioned subpulmonary coronary-refractory myocardial domain. The larger α angle in CAT could reflect its dual identity, aortic and pulmonary.