A new case of sodium-dependent multivitamin transporter defect occurring as a life-threatening condition responsive to early vitamin supplementation and literature review.

Background: Biallelic pathogenic variants in SLC5A6 resulting in sodium-dependent multivitamin transporter (SMVT) defect have recently been described as a vitamin-responsive inborn error of metabolism mimicking biotinidase deficiency. To our knowledge, only 16 patients have been reported so far with various clinical phenotypes such as neuropathy and other neurologic impairments, gastro-intestinal dysfunction and failure to thrive, osteopenia, immunodeficiency, metabolic acidosis, hypoglycemia, and recently severe cardiac symptoms.

Methods: We describe a case report of a 5-month-old girl presenting two recurrent episodes of metabolic decompensation and massive cardiac failure in the course of an infectious disease.

Contegra versus pulmonary homograft for right ventricular outflow tract reconstruction in newborns.

Objectives: Pulmonary homografts are standard alternatives to right ventricular outflow tract reconstruction in congenital heart surgery. Unfortunately, shortage and conduit failure by early calcifications and shrinking are observed for small-sized homografts in younger patients. In neonates, Contegra® 12 mm (Medtronic Inc.

Pulmonary valve replacement after right ventricular outflow tract reconstruction with homograft vs Contegra®: a case control comparison of mortality and morbidity.

Background: Repair of congenital heart defects involving the right ventricular outflow tract may require the implantation of a right ventricle to pulmonary artery conduit. This conduit is likely to be replaced during childhood. This study compares the operative outcomes of the replacement procedure of Contegra® and homografts in pulmonary position.

Managing Ventricular Septal Defect with Associated Aortic Regurgitation: Two Decades of Experience.

Background And Aim Of The Study: Ventricular septal defect (VSD) with aortic regurgitation (AR) is a well-known association. However, there is still no agreement about its management, particularly regarding the technical details of its operative treatment. The study aim was to describe all components of the syndrome and to evaluate the various techniques used with regards to its anatomical and functional features.

Use of a new low profile Occlutech PLD device for closure of Fontan fenestrations.

For some higher risk patients, fenestrations are still created in total cavopulmonary connection conduits completing the Fontan circulation for univentricular hearts. If these fenestrations remain patent and hemodynamics are favorable, they are closed to improve oxygenation and exercise tolerance and to decrease the risk of paradoxical emboli. Depending on the type of fenestration, different devices are used.

Implantation of an Absorb bioresorbable vascular scaffold in the stenotic aortopulmonary collateral artery of a young child with Alagille syndrome.

Stent implantation in children can be problematic due to the possibility of growth incapacity and difficulties during later surgery. For these reasons, bioresorbable stents may be a good alternative to conventional stents. We report our experience with implantation of an Absorb bioresorbable stent in the stenotic major aortopulmonary collateral artery (MAPCA) of a 1-year-old girl born with pulmonary atresia with ventricular septal defect.

Use of spatiotemporal image correlation at 11-14 weeks' gestation.

Objective: To assess prospectively the use of four-dimensional (4D) spatiotemporal image correlation (STIC) in the evaluation of the fetal heart at 11-14 weeks' gestation.

Methods: The study involved offline analysis of 4D-STIC volumes of the fetal heart acquired at 11-14 weeks' gestation in a population at high risk for congenital heart disease (CHD). Regression analysis was used to investigate the effect of gestational age, maternal body mass index, quality of the 4D-STIC volume, use of a transvaginal vs transabdominal probe and use of color Doppler ultrasonography on the ability to visualize separately different heart structures.

When coronary arteries need systolic pressure: surgical considerations.

Objectives: Patients with pulmonary atresia and intact ventricular septum (PA-IVS) may have coronary sinusoids connected to a hypertensive right ventricle. Coronary perfusion may then completely depend on the right ventricular systolic pressure wave; decompression of the right ventricle can be deleterious in these patients. This study was set to investigate the treatment strategies and outcomes of patients with coronary sinusoids.

First trimester fetal echocardiography: where are we now?

The detailed study of the fetal cardiac anatomy in the first trimester of pregnancy by means of ultrasound is feasible whether using a transvaginal or a transabdominal approach. There is nowadays enough evidence that ultrasound in the first trimester of pregnancy is a safe procedure provided thermal and mechanical indices are taken into account. The best timing for successful imaging of the four chambers and great arteries in early gestation appears to be between around 13 to 14 weeks rather than 11 to 12 weeks.

Virtual autopsy by computed tomographic angiography of the fetal heart: a feasibility study.

Objective: To determine the feasibility of postmortem computed tomographic (pm-CT) angiography for fetal heart evaluation.

Methods: Following termination of pregnancy (TOP) or intrauterine fetal death (IUFD) beyond 18 weeks' gestation, 33 fetuses were examined by pm-CT; in eight contrast medium was injected through the umbilical cord and in 25 contrast medium was injected directly into the heart. Logistic regression analysis was used to investigate the effect on the ability to visualize cardiac structures on pm-CT angiography of gestational age at TOP or delivery following IUFD, the time delay between fetal death and examination, the technique used for contrast-medium injection, the presence of cardiac abnormalities and whether or not there was IUFD.

Does congenital heart disease severely jeopardise family life and pregnancies? Obstetrical history of women with congenital heart disease in a single tertiary centre.

Aim: Women with congenital heart disease are often considered to be restricted in their obstetrical life and even their marital life. Our single-centre study aimed to determine the real-life situation of these women with regard to successful family life and any pregnancy complications they may experience.

Methods: From our database of adults with congenital heart disease, 160 of 178 women completed a questionnaire and had their files reviewed.

Long-term electrocardiographic follow-up after repair of tetralogy of Fallot.

Background: Fallot patients with conduction disturbances are prone to sudden cardiac death. However, knowledge about long-term electrocardiographic changes after Fallot repair is limited.

Methods: Measurements were performed on electrocardiograms recorded preoperatively, postoperatively, and during annual follow-up in 35 Fallot patients included in three groups: G1 if they received no patch (n = 7), G2 if they received a transannular patch (n = 13), and G3 if they received a pulmonary homograft (n = 15).

Magnetic resonance imaging in the normal fetal heart and in congenital heart disease.

Objective: To evaluate prospectively the feasibility of magnetic resonance imaging (MRI) for assessment of the fetal heart for congenital heart disease (CHD).

Methods: This was a cross-sectional study, including 66 fetuses with a normal heart and 40 with CHD. The fetal heart was examined on MRI using axial steady-state free precession (SSFP) sequences.

Use of a high-frequency linear transducer and MTI filtered color flow mapping in the assessment of fetal heart anatomy at the routine 11 to 13 + 6-week scan: a randomized trial.

Objective: To prospectively assess the contribution of a high-frequency linear transducer and of moving target indicator (MTI) filtered color flow mapping in the visualization of cardiac fetal anatomy at the routine 11 to 13 + 6-week scan.

Methods: This was a cross-sectional prospective study, including 300 singleton fetuses at 11 to 13 + 6 weeks' gestation. Patients were randomized into four groups and a detailed fetal cardiac examination was conducted transabdominally using either a conventional curvilinear transducer, a conventional curvilinear transducer and MTI filtered color flow mapping, a high-frequency linear transducer or a high-frequency linear transducer and MTI filtered color flow mapping.

An unusual case of congenital cardiac cyst of the interventricular septum.

We present a very rare case of a neonatal multiple haemangiomatosis with a cystic interventricular cardiac haemangioma. An anechoic cyst of 10 mm of diameter, located in the superior third of the interventricular septum was found by foetal echocardiography at 30 weeks of pregnancy. The baby was born at 39 weeks of pregnancy and the skin was covered with multiple purple cutaneous haemangiomas.

Prevalence of early postoperative arrhythmias in children with delayed open-heart surgery for severe congenital heart disease.

Unlabelled: BACKGROUND; Our aim was to determine the incidence, risk factors and outcome of early postoperative arrhythmias in children with delayed treatment of severe congenital heart disease.

Methods: A prospective study was conducted in 141 consecutive children with delayed referral from emerging countries, who underwent open-heart surgery.

Results: Sinus node dysfunction was noted in 5 cases.

Ten-year experience with surgical treatment of adults with congenital cardiac disease.

The number of adults with congenital cardiac disease continues to increase, and adult patients are now more numerous than paediatric patients. We sought to identify risk factors for perioperative death and report our results with surgical management of adult patients with congenital cardiac disease. We retrospectively analysed in-hospital data for 244 consecutive adult patients who underwent surgical treatment of congenital cardiac disease in our centre between January, 1998 and December, 2007.

Pericarditis as a rare complication of pneumococcal pneumonia in a young infant.

Purulent pericarditis is an exceptionally rare complication of pneumococcal pneumonia in infants but a rapidly fatal disease if left untreated. A previously healthy 4-month-old boy presented at our emergency department with a 10-day history of fever and non-productive cough. No signs of heart failure or cardiac friction rub were evidenced.

Prevalence of preoperative arrhythmias in children with delayed treatment of severe congenital heart disease.

Aim: Our aim was to determine the real importance of rhythm and conduction disorders in children with unoperated severe congenital heart disease.

Methods: Consecutive children with delayed treatment of severe congenital heart disease were prospectively studied for the occurrence of arrhythmias before any invasive investigation or surgical procedure was performed.

Results: All 168 children were in sinus rhythm.

The effect of bosentan in patients with a failing Fontan circulation.

Objectives: To investigate the effect of bosentan in patients with a failing Fontan circulation.

Design: A multicentric open label, non-controlled study.

Setting: 5 tertiary care centres for congenital cardiology.

Management of cardiac emergencies in children.

Children with heart disease may present to the Emergency Department in many stages of life, with a range of cardiovascular manifestions, from minimally irritating palpitations to the life-threatening derangements of shock or lethal dysrhythmia. Cardiac emergencies are rare in children in comparison to adults. The pathophysiology differs: ischemic heart disease is virtually unknown, whereas most cases occur secondary to congenital heart disease.

Spectrum and workload of consultation activities in a Belgian tertiary paediatric cardiac centre.

Background: Few data are available on the spectrum and frequency of issues addressed in the paediatric cardiology consultation service of tertiary academic hospitals.

Methods: Those activities were collected prospectively during 6 months.

Results: A total of 967 consultations were performed.

Chronotropic impairment after surgical or percutaneous closure of atrial septal defect.

Background: In previous studies, an attenuated heart rate response to exercise has been noted in patients after surgical closure of atrial septal defect. The aim of this study was to compare the prevalence of chronotropic impairment after surgical and percutaneous closure of atrial septal defect.

Methods: Thirty-eight pediatric patients who underwent a surgical (group A, n = 18) or transcatheter closure (group B, n = 20) of atrial septal defect in our institution were prospectively included in the study.