Diagnosis and management of Pompe disease.

Pompe disease (PD) is an autosomal-recessively inherited neuromuscular disease that, if not diagnosed and treated early, can be fatal. It can present from early infancy into adulthood. Due to the lack of acid alpha-glucosidase, there is progressive intracellular accumulation of glycogen. The severity of the disease is determined by age of onset, organ involvement including the degree of severity of muscle involvement, as well as rate of progression. PD is classified into two groups: infantile and late-onset, each having two subgroups. The need for two tests performed by separate methods (screening and confirmatory) is outlined. It is imperative to try to reduce the time to diagnosis and to recognise the possibilities of false-positive results. A multidisciplinary team approach to treatment of affected patients is optimum with, as team leader, a physician who has experience in managing this rare disorder. In this article, we present a brief overview of the disease and provide guidelines for diagnosis and management of this condition in South Africa.

Audit of Paediatric Cardiac Services in South Africa

objective: to evaluate paediatric cardiac services in south Africa with respect to referral base; services provided and human resources. study design: A descriptive study design was used. An audit of the referral base; personnel and activity of paediatric cardiac units throughout south Africa was conducted by means of a questionnaire. A specialist from each centre was asked to provide the relevant data. Where accurate data was not available; estimates were provided by practitioners within each centre. results: All identified units participated in the audit. three were private sector units while the other five were primarily public sector units. twenty four paediatric cardiologists; equally distributed between public and private sector units; were practicing in the country as at end 2008; with a further eight paediatricians undergoing training in paediatric cardiology. this is significantly less than the 88 paediatric cardiologists required for the population of south Africa. Eight paediatric cardiac surgeons were operating predominantly on children in public hospitals and five in private institutions. An estimated 1370 operations for congenital heart disease were performed over a one year period; with 800 of these in the public sector. Extrapolating from accepted estimates of congenital heart disease incidence; this represents conservatively; less that 40of operations required for the population. Additionally; only 26of the estimated 114 simple transposition of great arteries born annually were operated on; indicating serious deficiencies in the ability to adequately detect and intervene in serious congenital heart disease presenting in the neonatal period. conclusion: the infrastructure and resources to detect and manage heart disease in children in south Africa; particularly within the public sector; are grossly inadequate

Optimal Paediatric Cardiac Services in South Africa - What do we Need? Statement of the Paediatric Cardiac Society of South Africa

Most children with congenital heart disease have a good outcome if treated appropriately; however the majority of children with heart disease in south Africa do not receive appropriate care. this is related to serious deficiencies in as a major shortage of skilled personnel to care for these children at all levels .Most public sector hospitals are unable to cope with the number of patients requiring surgery; mainly due to inadequate theatre time allocation and intensive care facilities. Key interventions to address these deficiencies include: 1. strategies to improve both the training and the retention of all professionals involved in the care of congenital heart disease. 2. Programmes to increase awareness of both congenital and acquired heart disease in children among health care personnel. 3. Ensuring appropriate infrastructure and equipment designed for children with congenital heart disease are available. 4. Development of congenital heart surgery as an independent subspecialty with dedicated resources and personnel. 5. Dedicated intensive care facilities for paediatric heart surgery. In addition; development of appropriate patterns of referral; timulation of research and positive private-public partnerships are all necessary to ensure that appropriate care is delivered

Percutaneous closure of interatrial defects: the Free State experience.

OBJECTIVE: Atrial septal defects and patent foramen ovale can now be closed percutaneously. This report describes our initial and follow-up experience, especially in relation to efficacy and complications. METHODS: During a 2-year period, seven atrial septal defects and one patent foramen ovale were closed. The Amplatzer artrial septal defect occluder was used in five, the Cardioseal device in two and the Amplatzer patent foramen ovale occluder in one. A compliant sizing balloon was used to assess the stretched diameter of the defects. RESULTS: Percutaneous closure was successful in all patients. The median age was 5.4 years (range: 3.7-16.6 years) and median weight was 18 kg (range: 14-65 kg). The mean duration of the procedure was 2.3 hours. There were no acute complications. Patients were followed up for a mean of 1.1 years. One child experienced severe headaches and another developed an atrial flutter and a small leak 7 months after implantation, both of which resolved. CONCLUSIONS: Percutaneous closure of atrial septal defects and patent foramen ovale is effective and safe. In selected children, this may be offered as an alternative to surgery.

Multiple cardiac abnormalities in a case of non-mosaic trisomy 8.

We present a case of complete trisomy 8 in a 40-day-old male infant, who had a number of congenital heart abnormalities.

Intrapericardial teratoma in a twin with severe failure to thrive.

We report on one affected twin who presented with cough, dyspnoea and severe failure to thrive. He was found to have gross cardiomegaly on chest X-ray. This proved to be due to an intrapericardial teratoma with an associated pericardial effusion. The operation on this rare tumour was successful.

Coronary cameral fistula occurring in a case of Down syndrome.

This case report describes a coronary cameral fistula, an isolated cardiac defect, in a child with Down syndrome. Although Down syndrome patients are known to have a high incidence of cardiac defects, to the best of our knowledge this particular association has not been described previously.

Low molecular weight heparin in the successful treatment of a spontaneous aortic thrombosis in a neonate.

A successfully treated case of a spontaneous aortic thrombosis in a neonate is described as an illustration of the advantages of using low molecular weight heparin (LMWH) over unfractionated heparin (UFH) for anticoagulation therapy. A 5-day-old neonate presented with an abdominal aortic thrombosis detected by echocardiography. Intravenous UFH was commenced following thrombectomy. Poor venous access made monitoring the anticoagulation therapy problematic. Subcutaneous LMWH was substituted for UFH. It requires substantially less monitoring and no intravenous access, has fewer side effects, and allows for much earlier discharge from the hospital. Extensive investigation for a hypercoagulable state revealed no definite cause for the thrombus. The findings of homozygosity for a methylene tetrahydrofolate reductase (MTHFR) mutation and a mildly elevated homocysteine level are interesting but unlikely to account for the thrombotic event in this case. Anticoagulation with LMWH proved effective and more convenient than using UFH.

Right-sided endocarditis due to Salmonella typhi.

A case of right-sided endocarditis due to Salmonella typhi is described involving a native tricuspid valve in a child who was human immunodeficiency virus negative with no evidence of intravenous drug addiction. The patient had classic features of typhoid and tricuspid regurgitation without clinical evidence of bacterial endocarditis. Transthoracic echocardiography confirmed the tricuspid regurgitation. However, transesophageal echocardiography was necessary to demonstrate the vegetations affecting the tricuspid valve leaflets that made possible the diagnosis of endocarditis. The infection was cured with intravenous ceftriaxone and oral amoxicillin.

Acquired aortic regurgitation following occlusion of the persistent arterial duct: an echocardiographic assessment.

OBJECTIVE: To document the development of aortic regurgitation following occlusion of a patent arterial duct. DESIGN: Case series involving nine children referred for surgical ligation of an isolated patent arterial duct. SETTING: Academic referral centre. METHODS: A preoperative transthoracic and transoesophageal echocardiogram was performed in theatre to look for aortic regurgitation. Thereafter, aortic flow was monitored throughout the operation by colour flow mapping with the transoesophageal probe in situ. Onset of aortic regurgitation was documented. An immediate postoperative transthoracic echocardiogram was performed on all patients and then daily until discharge on day 5. A follow up clinical and echocardiographic assessment was performed six weeks postoperatively. RESULTS: With ligation of the patient arterial duct, transoesophageal echocardiography showed immediate regurgitation in seven of the nine patients, seen as a small central jet on colour flow mapping. Six of the seven patients continued to have aortic regurgitation on transthoracic echocardiography before leaving theatre. In none was aortic regurgitation audible clinically. At discharge, five patients still had evidence of aortic regurgitation; of four seen at follow up six weeks later, only one had residual regurgitation. CONCLUSIONS: Ligation of the patient arterial duct results in the acute termination of the "run off" in a volume overloaded situation. This, together with a rise in the peripheral vascular resistance and the persistence of increased proximal vascular capacitance, is considered to be the underlying aetiology of the acquired aortic regurgitation.

Atrioventricular septal defect and type A postaxial polydactyly without other major associated anomalies: a specific association.

Four children are described, (three black and one white, two boys and two girls) with type A postaxial polydactyly. All four of them, in addition, had either a partial or complete atrioventricular septal defect (AVSD). None of these children had associated major malformations. Minor anomalies were observed (e.g., two patients with hypersegmentation of the sternal segments, one patient with undescended testes, one patient with hypoplastic lumbar vertebra, and one patient with a degree of craniofacial abnormality). Chromosome analysis was carried out for three of the four patients, and was normal in all of them. It is suggested that there is a specific association between type A postaxial polydactyly and the AVSD found in each of these patients. This picture does not conform to, but bears some resemblance to, the Ellis-van Creveld syndrome.