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.

Short and Mid-term Efficacy of Device Closure of Patent Foramen Ovale for Treating the Patients With Patent Foramen Ovale Combining Cryptogenic Stroke and Transient Ischemic Attack / 中国循环杂志

Objective: To explore the short and mid-term efficacy of device closure of patent foramen ovale (PFO) for treating the patients with PFO combining cryptogenic stroke (CS) and transient ischemic attack (TIA). Methods: A total of 56 PFO patients with CS and TIA receiving device closure in our hospital from 2009-05 to 2015-12 were retrospectively studied. Transthoracic echocardiography (TTE), electrocardiogram (ECG), chest X-ray were examined at 24h, 1 month, 3 and 6 months after theoperation; telephone visit was conducted every 6 months thereafter. Results: There were 54/56 PFO patients combining CS and 2 combining TIA; 53 (94.6%)patients received PFO occluder from Starway medical technology. Aspirin was used for 6 months after the operation. The patients were followed-up for the average of (34.67±23.24) months. No body suffered from post-operative stroke and TIA; no residual shunt was observed. Conclusion: The short and mid-term efficacy of device closure has been satisfactory for treating the patients with PFO combining CS and TIA; its overall clinical value should be further investigated in large population and long-term study.

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.

Trisomy 8p (p11.2-pter) due to maternal translocation t(8;13)(p11;p12) in a child with dysmorphic features.

Here we present a phenotypic description of a male child with trisomy 8p resulting from a maternal balanced reciprocal translocation. The patient presented with dysmorphic face, aplasia of the corpus callosum, and atrophy of cortex, congenital heart defect and marked hypotonia. The father had a normal karyotype. The mother had an apparently balanced translocation involving chromosomes 8 and 13 [46, XX, t(8;13)(p11.2;p12)]. The karyotype of the child was ascertained as 46, XY, der(13)t(8;13)(p11.2;p12). This is the second reported case of trisomy 8p resulting from a translocation between chromosomes 8 and 13. The chromosomal breakpoints in the two cases differed.

Clinical significance of fetal nuchal translucency during early pregnancy / 대한산부인과학회지

OBJECTIVE: To examine the significance of fetal nuchal translucency during early pregnancy in detection of chromosomal abnormality and major cardiac defect METHODS: Between Jul 1998 and Jul 2002, ultrasound examination was performed in 1,253 unselected singleton pregnancies with a live fetus and fetal crown rump length of 24-88 mm. The fetal nuchal translucency thickness was measured successfully in all cases. We reviewed the pregnancy outcome about two parameters. Chromosomal abnormality was confirmed by antenatal karyotyping and newborn's feature suggestive of a chromosomal defect. Major cardiac defect was confirmed by newborn physical examination, targeted ultrasonography, neonatal echocardiography and autopsy. RESULTS: (1) Fetal nuchal translucency thickness increased significantly with crown-rump length. (2) Nuchal translucency was greater than 3 mm in 12 pregnancies with abnormal karyotypes, giving a detection rate of 75.0% with a false positive rate of 4.0%. With a cutoff of 2.5 mm, a detection rate of abnormal karyotype was 81.3% with a false positive rate of 8.3%. And with a gestational age specific cutoff, 95 percentile, a detection rate of abnormal karyotype was 75%, with a false positive rate of 6.4%. (3) With normal karyotype, the overall prevalence of major cardiac defects in this study population was 5/1,000 pregnancies (5/1,054). This prevalence increased from 48/1,000 (4/83) using 2.5 mm cutoff to 105/1,000 (4/38) using 3 mm cutoff. The detection rate for major cardiac defect of nuchal translucency above 3 mm is 80.0% with a false positive rate of 3.2%. CONCLUSION: Increased nuchal translucency is by far an important and efficient marker for screening of chromosomal defects and effective screening method for major cardiac defects.

Congenital aortic arch anomalies: contrast enhancement MRA and DSA diagnosis / 中华放射学杂志

Objective To report 115 cases of congenital aortic arch anomalies, and to evaluate the imaging diagnostic techniques. Methods One hundred and fifteen patients with congenital aortic arch anomalies underwent angiocardiography and(or)contrast enhancement magnetic resonance angiography (CE MRA). Results In this 115 cases, double aortic arch was seen in 5 cases, right aortic arch with aberrant left subclavian artery in 45 with isolated left subclavian artery in 11, left aortic arch with aberrant right subclavian artery in 33, right aortic arch with left descending aorta in 7, left aortic arch with right descending aorta in 4, cervical aorta in 4, and others in 6. Conclusion CE MRA is a reliable noninvasive imaging diagnostic method.

Hie Changes of Plasma Atrial Natriuretic Polypeptied in Children with Congenital Heart Disease and Their Significance / 第二军医大学学报

The levels of plasma immunoreactive atrial natriuretic polypeptide (ir-ANP) were determined by radioimmunoassay in 59 children with congenital heart disease (CHD). It was showed that the ir-ANP levels of the patients with left to right shunt were higher than those of control (P0.05). The iir-ANP levels of patients with HYHA II degree were increased significantly (P