Fátima F. Pinto

Late cardiac tamponade after transcatheter closure of atrial septal defect with Cardioseal® device

Cardiac tamponade occurring late after interventional closure of defects within the oval fossa is a very rare but life-threatening complication. We describe such an occurrence after use of a Cardioseal device to close an interatrial communication. Two arms of the device had perforated left atrial wall. The device was removed at surgery, and the defect closed uneventfully. All available means should be used to identify this complication.

Thoracic Duct Decompression for Protein-Losing Enteropathy in Failing Fontan Circulation.

An infrequent but devastating late complication of Fontan circulation is protein-losing enteropathy (PLE), which results from unbalanced lymphatic homeostasis. Surgical decompression of the thoracic duct by redirecting its drainage to the pulmonary venous atrium has been introduced recently as a possible treatment. This report describes a single-institution experience with this innovative procedure in 2 patients with failing Fontan circulation with PLE refractory to optimized medical therapy.

Long-term evaluation of endothelial function in Kawasaki disease patients

BACKGROUND Kawasaki disease is an acute systemic vasculitis. Cardiac complications are frequent and include endothelial dysfunction in patients with coronary anomalies. So far, the presence of endothelial dysfunction in patients with no coronary lesions has not been demonstrated. Peripheral arterial tonometry (Endo-PAT) measures the microvascular function in response to local ischaemia and has been validated in adult population, but its use in children is scarce. Aim To evaluate endothelial dysfunction in children as a long-term complication after Kawasaki disease using Endo-PAT. METHODS We evaluated two groups of subjects: (1) Kawasaki disease patients over 11 years of age, diagnosed for >5 years, with no coronary lesions, or any other risk factors for cardiovascular disease; (2) control group of individuals without cardiovascular risk factors. Patients and controls were clinically accessed. Endo-PAT was performed to determine reactive hyperaemia index and augmentation index. RESULTS A total of 35 individuals (21 males, age 21 ± 6 years) were evaluated (group 1: 19; controls: 16). Kawasaki disease patients presented significant lower reactive hyperaemia index (1.68 ± 0.49 versus 2.31 ± 0.53; p = 0.001). Augmentation index was similar in both groups (-10 ± 7 versus -11 ± 5; p > 0.005). Most patients with Kawasaki disease disclosed endothelial dysfunction (68%) compared with only 12% in controls. CONCLUSIONS Endo-PAT is feasible and reproducible in the child population. Endothelial dysfunction is a frequent long-term complication in patients after Kawasaki disease with normal appearing coronary arteries. However, these results need validation in a larger population.

Partial Anomalous Pulmonary Venous Connections Surgical Management

Partial anomalous pulmonary venous connections (PAPVCs) are a heterogeneous group of congenital heart lesions in which at least one pulmonary vein will drain into the systemic venous system. The consequences are a variable left-to-right hemodynamic shunt and more rarely pulmonary artery hypertension. Often, PAPVC occurs in association with other congenital cardiac malformations. Surgical correction is most often advisable and is generally straightforward and simple to achieve. Historically, some repairs have included incision across the junction of the superior vena cava with the right atrium, which can lead to late arrhythmias. The Warden technique avoids incision across the atriocaval junction. Neonates and infants with Scimitar syndrome represent the most challenging subset of patients with PAPVC.

Percutaneous Occlusion of Vascular Malformations in Pediatric and Adult Patients: 20-Year Experience of a Single Center

A case series on different vascular malformations (VM) treated with percutaneous occlusion in children and adults is presented.

The Role of Propranolol in the Treatment of Infantile Hemangioma

INTRODUCTION Infantile hemangioma (IH) is one of the most common childhood tumors. There are various medical or surgical therapeutic options, all with suboptimal results. Recently, the successful use of propranolol for involution of IH was described. We report the results of a single-center experience with this therapeutic option. OBJECTIVE To prospectively assess the efficacy and safety of propranolol in children with infantile hemangioma. METHODS We performed a prospective analysis of clinical data of all patients with IH referred to a pediatric cardiology center for baseline cardiovascular assessment prior to propranolol therapy. Propranolol was given at a starting dose of 1 mg/kg/day and titrated to a target dose of 2-3 mg/kg/day according to clinical response. Efficacy was assessed through a photograph-based severity scoring scale. Safety was assessed by collecting data regarding significant side effects. RESULTS Starting in 2010, 30 patients (15 female) were referred for propranolol treatment of IH, at a median age of six months (1-63 months). The mean target propranolol dose was 2.8 mg/kg/day, with a mean duration of therapy of 12 months. All patients experienced significant reduction of IH size and volume. There were no side effects. CONCLUSIONS In our experience propranolol appears to be a useful and safe treatment option for severe or complicated IH, achieving a rapid and significant reduction in their size. No adverse effects were observed, although until larger clinical trials are completed, potential adverse events should be borne in mind and consultation with local specialists is recommended prior to initiating treatment.

An insight into the autonomic and haemodynamic mechanisms underlying reflex syncope in children and adolescents: a multiparametric analysis.

Around 15% of children and adolescents experience at least one episode of syncope until adulthood. Excluding cardiac disease, the majority of syncopes are of reflex origin and benign in nature. In this situation, a tilt test is conducted to reproduce symptoms and to evaluate cardiovascular adaptations to orthostatism, but its mechanisms are not yet well defined. Here, we investigated haemodynamics and autonomic activity during tilt in young patients. Patients (n=113) with unexplained syncope were enrolled. Tilt followed a standard protocol without provocative agents. A positive response (fainters) was defined as a sudden development of syncope or presyncope associated with hypotension, bradycardia, or both. Haemodynamic parameters, autonomic activity, and baroreflex sensibility were evaluated. Data were analysed on baseline; immediately after tilting; on tilt adaptation; before fainting or before tilt-down for non-fainters; and on tilt-down. A total of 45 patients experienced syncope after a mean time of 18 minutes. During tilting up, fainters showed lower blood pressure and peripheral resistance values, which decreased progressively with time together with baroreflex sensibility. Sympathetic tone increased massively along time till syncope. No changes in cardiac output and heart rate were observed. Results show a strong effort of the autonomic nervous system to adapt to orthostatic stress through different magnitudes of sympathetic output, which was maximal before syncope without apparent modifications of parasympathetic tone. These changes suggest an imbalance between both branches of the autonomic nervous system, not enabling a time-progressive adaptation and leading the subject to faint.

Initial use of endothelial progenitor cells capturing stents in paediatric congenital heart disease.

INTRODUCTION Stenosis, mediated by neointimal hyperplasia and thrombosis, is a major limiting factor in successful stent implantation. The introduction of a stent, coated in its endoluminal surface by antihuman CD34 antibodies with endothelial progenitor cell-capturing properties, opens the possibility of promoting a rapid and normal functioning coverage by endothelium and thus avoids both an excessive cell proliferation within stent and the need for long-term dual antiplatelet therapy. These stents, developed for adult coronary artery disease, have not yet been implanted in children or in those with congenital heart disease. OBJECTIVE AND METHODS In this paper, we describe the implantation of Genous® stents in three children with cyanotic congenital heart disease and obstructed systemic-to-pulmonary shunts. We describe the use of this stent and address its potential feasibility in paediatric congenital heart disease. RESULTS To maintain the patency of two modified Blalock-Taussig shunts and one ductus arteriosus, four Genous® stents were implanted in three infants with cyanotic heart disease. All procedures were immediately successful, with resolution of stenosis and improvement in transcutaneous oxygen saturation from 66% ± 3.6% to 92% ± 2.6%. In the follow-up, one stent had no occlusion; however, the remaining two had partial occlusion after 5 and 5.5 months, which were successfully managed with balloon dilatation preceding elective definitive surgical correction. CONCLUSION In our preliminary experience, we demonstrated that Genous® stent implantation was feasible in infants with complex congenital heart disease. Additional studies with larger samples and longer follow-up are required to confirm the potential benefits of this technology in this clinical setting.

A Papillary Fibroelastoma of the Tricuspid Valve

Primary cardiac tumours are rare in children. Of these, papillary fibroelastomas are unusual but benign, usually being found in adults. There are only sporadic cases reported in children. We diagnosed such a papillary fibroelastoma involving the tricuspid valve in an asymptomatic child during a routine cardiac investigation.

Diagnóstico clínico e genético de miocardiopatia hipertrófica familiar: resultados em cardiologia pediátrica

INTRODUCTION Hypertrophic cardiomyopathy (HCM) is most often of autosomal dominant inheritance with incomplete penetrance and variable expression. The main purpose of family screening is to identify relatives with unrecognized HCM and to monitor those at risk for disease, in order to minimize complications and to assess risk of sudden cardiac death. The ESC and ACCF/AHA guidelines on the diagnosis and management of HCM recommend the screening of child relatives from the age of 10-12 years. OBJECTIVES We studied the outcome of clinical screening and genetic testing of child probands and relatives (<18 years of age) from families with HCM and assessed the age-related penetrance of HCM during the follow-up of these young relatives. METHODS AND RESULTS Twenty patients from ten families were included between 2004 and 2013, consisting of three probands and 17 first-degree relatives (80% male; median age 10 years). Fourteen child relatives were mutation carriers (70%; median age eight years). Seven (50%) of the 14 mutation carriers were diagnosed with HCM at initial assessment. At-risk child relatives were defined as those with a positive mutation but a negative phenotype at enrollment. After 3.5±0.8 years of follow-up, two of the phenotype-negative mutation carriers developed HCM at 10 and 15 years of age (28% penetrance rate). CONCLUSIONS The penetrance of HCM in phenotype-negative child relatives was 28% after 3.5 years of follow-up. This underlines the need for long-term monitoring of mutation carriers irrespective of the presence of a positive phenotype.