Pentalogy of Cantrell : the first Maltese case with successful outcome

Pentalogy of Cantrell is a rare disorder which was first described by Cantrell and his colleagues in 1958. It is comprised of congenital heart disease and midline defects. Surgical treatment is possible with internalisation of the heart, repair of associated intracardiac anomalies and repair of the thoraco-abdominal defect. In this article the authors describe the first Maltese case, with a successful outcome.peer-reviewe

Screening for congenital hypothyroidism in Maltese newborns using cord blood

Routine screening for congenital hypothyroidism (CHT) has been introduced because clinical features of CHT may not be evident before the baby is a few weeks old and treatment at this stage may already be too late. Since a newborn testing programme employing liquid cord blood for other conditions had already been developed in the University of Malta and the Department of Health, we explored the possibility of implementing newborn thyroid testing using liquid cord blood. A similar programme had been implemented successfully in Finland and Philadelphia. Between September 1989 and August 1995 around 32,000 newborns were tested. This is nearly complete ascertainment. Preliminary testing was by radioimmunoassay for TSH. The sera of those with TSH levels more than 13mU/l were further tested for free T4. If the free T4 level was below 12 pmol/l, the babies were recalled for clinical evaluation and repeat testing. Other babies were recalled for technical reasons, giving a total recall rate of 3.88%. CHT was identified in seven newborns and treatment started within 3 weeks of delivery. One baby was reported normal on screening but was suspected to have CHT on clinical grounds at 3 weeks of age, confirmed biochemically. The incidence of CHT in Malta is therefore 1 in 4500.peer-reviewe

Overview of the blood transfusion policy in preterms on the Neonatal Intensive Care Unit

Preterm infants on the Neonatal Intensive Care Unit receive a greater number of red cell transfusions than any other hospitalised group. Over the past twenty years research has focused on setting standards to determine when it is necessary to transfuse packed cells in this cohort, whilst exploring the use of red cell growth factors and other substrates judiciously in order to reduce and/or avoid red cell transfusions and limit donor exposure. One hundred and eighty-one blood transfusions were administered to 106 preterms less than 35 weeks gestation on the NICU during 2009 in Malta. The median (range) volume of blood used from each bag supplied by the Blood Transfusion Department was 25.8mls (10-50mls), the rest of which was discarded. Risk factors for transfusion included Extremely Low Birth Weight (less than 1kg) and a gestation of less than 30 weeks. The blood transfusion guidelines presently in use on the local NICU were reviewed and compared with more restrictive guidelines on other units and suggestions made to reduce transfusions in line with these guidelines. A reduction in transfusion aliquots provided for neonates to just 50mls from the customary 250mls in a dedicated single-donor programme will safeguard limited health resources and minimise donor exposure.peer-reviewe

Aortic stenting for neonatal coarctation of the aorta : when should this be considered?

Aortic coarctation (CoA) constitutes the fifth most common congenital heart defect (1 in 2500 live births). This lesion comprises 5-8% of congenital heart disease and has variable severity and mode of presentation. Critical coarctation in newborns usually presents with severe narrowing of the upper thoracic aorta below the isthmus and adjacent to the arterial duct, and is dependent on duct patency for survival. Rapid deterioration of the patient usually results from spontaneous closure of the patent arterial duct (PDA). This deterioration is in part due to reduced renal perfusion resulting in fluid and acid retention causing heart failure and metabolic acidosis. This may be alleviated by the administration of intravenous prostaglandin, with temporary improvement of distal aortic blood flow, and overall condition. The treatment of choice is surgical resection with the ‘extended end-to-end’ technique. We present a case of a severely ill newborn with complex coarctation, multiorgan failure, disseminated intravascular coagulation and oedema, who was treated with emergency stenting on the tenth day of life. This was followed by surgical stent removal and repair of the arch on the 29th day of life. We followed the strategy of minimally invasive interventional bridging of a borderline patient with regard to the experience of stenting of native coarctations in older patients, or complex recurrent stenosis of previously surgically treated childrenpeer-reviewe