Screening for congenital heart disease in a Singapore neonatal unit

INTRODUCTION@#Congenital heart disease (CHD) is a leading cause of infant mortality. The aim of this study was to evaluate the efficacy of a neonatal screening programme for CHD before the introduction of pulse oximetry.@*METHODS@#This was a retrospective review of live births in the period 2003-2012. Cases of CHD were detected through prenatal ultrasonography and/or postnatal examination, and confirmed using two-dimensional echocardiography. Data was rigorously checked against multiple sources. The antenatal detection rate, sensitivity, specificity, predictive values and likelihood ratios of the screening programme were analysed for all cases of CHD and critical CHD.@*RESULTS@#The incidence of CHD was 9.7 per 1,000 live births. The commonest CHD was ventricular septal defect (54.8%). The antenatal detection rate was three times higher in the critical CHD group (64.0%) compared to the group as a whole (21.1%). The sensitivity and specificity of screening was 64.5% and 99.7% for all CHD, and 92.9% and 99.1% for the critical CHD group, respectively. The positive likelihood ratio was 215 and 103, while the negative likelihood ratio was 0.36 and 0.07 for all CHD and critical CHD, respectively.@*CONCLUSION@#The CHD screening programme had excellent specificity but limited sensitivity. The high positive likelihood ratios indicate that where sufficient risk factors for CHD are present, a positive result effectively confirms the presence of CHD. The low negative likelihood ratio for critical CHD indicates that, where prior suspicion for critical CHD is low, a negative result is reassuring.

Eisenmenger Syndrome - a Case Report.

Eisenmenger syndrome (ES), the most advanced form of pulmonary arterial hypertension associated with congenital heart disease, is a devastating condition that has a considerable impact on patient's life. Patients who develop ES typically exhibit one or more of a range of cardiac defects including ventricular septal defects (VSD), atrial septal defects (ASD) and patent ductus arteriosus (PDA). The nature of the congenital defect underlying ES is important because it has prognostic implications. Early diagnosis & treatment of cardiac defect before development of pulmonary hypertension is the key to definite management, otherwise only supportive management can be offered. Our patient Mr. Abdul Khaleque, 55 years old, businessman, non diabetic, non hypertensive admitted in DAMCH, cardiac unit with the complaints of shortness of breath on exertion since childhood, bluish discoloration of nails and toes for 10 years, headache and vertigo for 2 weeks. Initially it was during severe exertion and relieved by rest. Gradually the severity of breathlessness has increased. Now he has developed NYHA class III. He had history of repeated attacks of cough with expectoration of mucoid sputum with occasional scanty amount of blood which did not foul smell and did not change with posture. We diagnose him as Eisenmenger syndrome secondary to ASD and treat him with only medical measure.

Sinus of Valsalva Aneurysms in Non-marfan Patients: An Underestimated Entity : A Case Series.

Aims: Sinus of Valsalva aneurysms are rare anomalies. Aneurysmal dilatation of the sinuses of Valsalva in Marfan syndrome has been extensively studied. The aim of this study was to investigate clinical manifestation, diagnosis, histopathological findings and management of sinus of Valsalva aneurysms in non-Marfan patients. Study Design: Retrospective analysis, case-series. Methodology: A search of digital echocardiographic recordings, histopathology and electronic patient databases in our institution for the period 2004 – 2012 was performed. All patients with asymmetrical dilatation of at least one coronary sinus of Valsalva at postmortem and ruptured (or dissected) aneurysms on echocardiogram were included. Patients with Marfan syndrome and those with non-ruptured sinus of Valsalva aneurysms on echocardiogram were excluded. Results: A total of 12 patients (7 males; mean age 36.1 years) were studied. The right coronary sinus was the most commonly affected (9/12). Involvement of more than 1 sinus was seen in 3/12 cases. Four patients died suddenly and another 6 had acute or rapidly worsening symptoms. Three sudden deaths were due to dissection or rupture with haemopericardium and tamponade. Five cases had concomitant congenital heart defects. Conclusion: Sinus of Valsalva aneurysms are an uncommon cause of morbidity and mortality in non-Marfan patients. They are associated with certain congenital heart defects. There is often associated aortopathy. Sudden death can be the first manifestation and is most commonly due to aneurysm rupture or aortic dissection into the pericardial space. Echocardiography is the investigation of choice for diagnosis and follow-up. Prompt surgical or percutaneous intervention has an excellent long-term outcome.