Patent arterial duct occlusion with two amplatzer duct occluder devices

It is accepted practice to close large patent arterial ducts (PDA) with Amplatzer duct occluder devices, with extremely low rates of residual PDA. This article reports a child who required device closure of PDA with two Amplatzer PDA devices on two separate occasions, despite the first device deployment being a standard placement of an appropriately sized Amplatzer device in the usual position.peer-reviewe

Right ventricular outflow tract stenting : effective palliation for Fallot’s tetralogy

Traditionally, the management of infants with Fallot’s tetralogy (TOF) with excessively reduced pulmonary flow and cyanosis has been palliation until or unless complete repair is feasible. Palliation involves a procedure that augments pulmonary flow. Most series recognise two subgroups of patients at high risk even in the current era: the cyanotic neonate/infant with small pulmonary arteries and those with complex anatomical variants of tetralogy and/or significant comorbidities such as additional congenital heart lesions (e.g associated Atrio Ventricular Septal Defect) or other congenital anomalies. There is an argument for palliation of these high-risk groups to allow for future potentially more effective elective repairpeer-reviewe

“Bendy” stents help negotiate hairpin intracardiac curves

Simple transposition of the great arteries (TGA) occurs in 0.2 per 1000 live births. The condition is surgically repaired in the neonatal period by the arterial switch procedure (ASO) sometimes preceded by an atrial septostomy. The ASO involves transecting the great arteries and relocating them to the appropriate ventriculo-arterial (VA) connection with attachment of the disconnected coronary arteries to the aorta. In the process, the attachment of the pulmonary artery to the right ventricle involves the Le Compte manoeuvre and to achieve this the pulmonary arteries must be fully mobilised and sometimes the main pulmonary artery may require patch augmentation as well. Nevertheless, pulmonary artery stenosis (PAS) is one of the potential problems with the ASO. However, with improved surgical techniques, this has dropped from around 15% in the 1980s to less than 3%. Apart from surgical revision when PAS occurs, there are interventional options which include angioplasty and/or stent insertion. The latter is preferred in small children and works well in around 60% but may require repeat procedures. In older patients or when angioplasty fails, stent insertion can be considered. These procedures may involve negotiating tight bends in order to reach the site of stenosis. The passage of non-premounted stents may be problematic in such situations, especially with longer stents and tighter bends as they tend to slip off balloon. We describe several techniques that may facilitate such interventions, and these were utilised in an adolescent patient who had had ASO for TGA in the neonatal period. These included manually giving the mounted stent a slight bend in order to help the balloon-stent assembly negotiate hairpin bends.peer-reviewe

3 year old with chronic wet cough : Intralobar Bronchopulmonary sequestration

Bronchopulmonary sequestration (BPS) is a rare congenital foregut anomaly of the lung, consisting of nonfunctioning primitive tissue that does not communicate with the healthy tracheobronchial tree. The abnormal segment has its own anomalous systemic blood supply, and typically drains into the pulmonary venous system. It is frequently asymptomatic and may be discovered incidentally. Symptoms may vary, with patients presenting with vague symptoms related to chronic respiratory infection. Early diagnosis and intervention decreases morbidity and mortality. We present a case of intralobar pulmonary sequestration involving the right lower lobe in a male child.peer-reviewe

Mitral valve infective endocarditis following device occlusion of a coronary artery fistula

A three year old girl, with a right coronary artery fistula and signs of a hyperdynamic circulation, underwent uncomplicated closure of the fistula using an occluding device introduced via the femoral arterial route and covered with appropriate antibiotics. Two months later she presented with a persistent fever, signs of infective endocarditis (IE) and embolic phenomena in the left lower limb. Mitral valve endocarditis was confirmed immediately and treated effectively. However, initial ultrasound and doppler did not show the femoral artery thrombo-occlusion that was only confirmed on magnetic resonance angiography (MRA) one month later. This case highlights the usefulness of MRA in diagnosing suspected vessel occlusion in young children, and is in keeping with the latest NICE guidelines that suggest that prophylactic antibiotics do not always prevent IE. Parent and patient education on ‘what to look out for’, combined with careful clinical vigilance is paramount in the early detection of IE with a consequent reduction in morbidity and mortality.peer-reviewe

Y chromosome in turner syndrome : a case report

In man, the Y chromosome spans approximately 58 million base pairs and represents just 1% of the total DNA in a male cell.1 Sex is determined in the SRY locus on the Y chromosome. During the formation of gametes, chromosomal crossover between homologous chromosomes during the meiotic division results in genetic diversity. Genetic recombination can also repair damaged genes. Recombinations between the two X chromosomes for self-repair is possible in females but is not possible for the Y chromosome since this chromosome is present in isolation in the male. This has led to the hypothesis that the Y chromosome may one day become extinct due to cumulative and unrepaired damage.2 This has occurred, for example, in the Transcaucasian mole vole which does not have an SRY gene or Y chromosome, with both sexes possessing a XO sex chromosome only. Indeed, in this species, sex determining genes are found on a different chromosome. In Turner syndrome, the affected individual has one X chromosome, with an absent sex chromosome. It had been assumed that the missing chromosome is an X chromosome, but this may not be the case. It is now proposed that this condition may be caused by a paternal unstable isodicentric Y during the formation of germ cells, such that the Y chromosome is the missing chromosome.5,6 Evidence for this includes the absence of an increased incidence of Turner’s syndrome with increasing maternal age, along with the fact that the X chromosomes present in Turner syndrome are 74% maternally derived. Here the authors present a case of mosaic Turner’s syndrome, i.e. a patient with two cell lines, 45X and the other with 46 chromosomes, one of which was an isodicentric Y chromosome. Fluorescence in situ hybridization (FISH) showed that the SRY locus is present on the Y chromosome in this phenotypical female patient.peer-reviewe

Transcatheter closure of Ventricular Septal defects in Malta : initial experience

Ventricular septal defects (VSD) consist of deficiencies of the wall separating the two ventricles. VSDs are the commonest congenital cardiac defects. Small VSDs rarely require intervention, however, larger defects cause ventricular volume overload with or without heart failure or pulmonary hypertension and may, therefore, require closure. Traditionally, closure has been an open heart surgical procedure. In recent years, various devices have been developed to close a wide variety of cardiac defects including atrial septal defects and patent arterial ducts through transcatheter interventional techniques. Recently, AGA Medical Corporation have introduced a range of Amplatzer VSD occluders which include specific devices for perimembranous (PM), muscular and post myocardial infarction (MI) VSDs. Atrial septal defect and patent foramen ovale closure has been carried out at St. Luke's Hospital in Malta for the past three years. This year, for the first time, we have closed three VSDs in three individuals; two children with large perimembranous defects and an elderly gentleman with a large post-MI VSD. This paper will discuss this technique and initial results.peer-reviewe

Transcatheter device closure of atrial septal defect and patent foramen ovale in Malta

Significant atrial septal defects (ASD) are closed, surgically or through a transcatheter device, in order to avoid pulmonary hypertension in late life. A patent foramen ovale (PFO) may need to be closed because of transient shunt reversal resulting in transient ischaemic events or stroke. We report the Maltese experience to date in transcatheter closure of these defects. A total of 46 ASDs and 51 PFOs have been successfully closed at our unit (total 97), with very low complication rates, rates that compare very favourably with results from larger international centres.peer-reviewe