Guoying Huang

Prevalence of congenital heart disease at live birth: an accurate assessment by echocardiographic screening.

To determine the true prevalence of congenital heart disease (CHD) at live birth using echocardiographic screening.

Anomalous Origin of a Coronary Artery from the Right Branchiocephalic Trunk Associated with Complex Congenital Heart Disease

This report describes the extremely rare case of a 42-day-old boy with anomalous origin of a single coronary artery from the right branchiocephalic trunk associated with hypoplastic left ventricle, mitral atresia, truncus arteriosus, total anomalous pulmonary venous drainage, and patent foramen ovale.

No Association of Pri-miR-143 rs41291957 Polymorphism with the Risk of Congenital Heart Disease in a Chinese Population

AbstractMiR-143 plays an important role in the heart development of zebra fish. The rs41291957 variant located in the pri-miR-143 sequence is associated with colorectal carcinogenesis. Therefore, the authors hypothesized that rs41291957 in pri-miR-143 might be involved in the risk of sporadic congenital heart disease (CHD). The authors conducted a case-control study of CHD in a Chinese population to test their hypothesis by genotyping pri-miR-143 rs41291957 in 1,109 CHD cases and 915 non-CHD control subjects. Logistic regression analyses showed no significant association of genotype or allele frequencies of pri-miR-143 rs41291957 A/G polymorphism with the CHD cases in overall or various subtypes compared with the control group. To the authors’ knowledge, this is the first study to investigate the relationship between miR-143 and CHD cases. The results demonstrated that rs41291957 in pri-miR-143 has no major role in genetic susceptibility to sporadic CHD, at least in the current study population.

Pulse oximetry is a feasible method for detecting neonatal critical congenital heart disease

We would like to respond to the letter by Dr Fernandes and Dr Lakshminrusimha, which stated that using pulse oximetry to screen critical congenital heart disease (CCHD) in neonatal intensive care units (NICU) is complex and difficult to implement, because the infants are all in a critical condition (1). That is why our study, which they were commenting on, used a relatively simple screening approach that could be performed by NICU staff in our centre with a good level of compliance (2). Indeed, ventilation or supplemental oxygen would interfere with the accuracy of screening. Most of the study neonates whowere admitted to our NICU were put on oxygen therapy. Low pulse oximetry was usually considered as a serious pulmonary disease, and our therapy strategy was to maintain the oxygen saturation levels between 91 and 95% in both preterm and term infants requiring supplemental oxygen. The saturation of neonates with CCHDwould still be lower than 95% even on oxygen therapy, and pulse oximetry screening was able to help detect heart disease with low oxygen saturations. It is true that there was a high false-positive rate of pulse oximetry and clinical evaluation screening in our NICU, but that false-positive rate should not be compared with that in the asymptomatic neonates. Without screening, those babies who had CCHD may not have been diagnosed by echocardiography until their condition got worse, which would have caused higher levels of mortality and morbidity. Cost-effectiveness was another concern, but in China, one echocardiography costs 200 Chinese yuan, which is equivalent to approximately 29.08 US dollars, and that is affordable. Actually, many babies in NICU need echocardiography assessment of their cardiac function, and our centre carries out this screening in a timely fashion before the babys condition gets any worse. The average screening time was 29.96 hours after birth in our study, as shown in Figure 1. All neonatal patients in our centre were transported from other hospitals, and most of them were continuously monitored on a pulse oximeter. After they were admitted, we routinely screened them using pulse oximetry and clinical evaluation. We repeated a failed screen in four hours, based on our NICU experience and our preliminary work on CCHD screening in asymptomatic infants (3). Few CCHD infants were found in the repeated tests. We did not use femoral pulses in our screening protocol because it would have taken more time and training. More importantly, it is not easy to definitively feel the pulse in seriously ill neonates, especially preterm infants. Finally, we agree that we should keep improving the methods of CCHD screening in our NICU, and in the future, this may include using the peripheral perfusion index and pocket ultrasound devices.

Anomalous Origin of Both Coronary Arteries from the Pulmonary Artery Associated with Tetralogy of Fallot and Patent Ductus Arteriosus

Anomalous origin of the coronary arteries constitutes a group of congenital anomalies that occurs in 1% to 2% of congenital malformations. The most common type is anomalous left coronary artery from the main pulmonary artery (MPA) (ALCAPA). Both the left and the right pulmonary arteries arising from the MPA (ABCPA) is extremely rare, with a few cases reported. We report a young infant with ABCPA associated with tetralogy of Fallot (TOF) and patent ductus arteriosus (PDA). A 3-month-old girl presented with mild cyanosis, tachypnea, and failure to thrive beginning soon after her birth. Physical examination showed the signs of congestive heart failure and a grade III/IV systolic ejection murmur at the middle left sternal border. Chest X-ray showed mild pulmonary plethora combined with biventricular and left atrial enlargement, with a cardiothoracic ratio of 0.7. Electrocardiolography showed ST segment horizontal depression in leads V5 and V6, followed by diphasic T wave and T wave inversion in leads I and aVL, which indicated lateral myocardial ischemia, in addition to left atrial and biventricular hypertrophy. Echocardiography suggested the diagnosis of TOF and PDA—also biventricular chamber enlargment with mild mitral regurgitation and moderate to severe tricuspid regurgitation; the coronary arteries could not be demonstrated clearly. At cardiac catheterization, the calculated QP/QS was 2.3/1 with MPA oxygen saturation of 90.6%, MPA pressure of 57/16 mmHg, and systolic pressure gradient from right ventricle (RV) to MPA of only 12 mm Hg. Angiogram in the RV, left ventricle (LV), and aortic root confirmed the diagnosis of TOF and PDA, but no coronary artery was noted to arise from the three aortic ostia (Fig. 1), and the coronary arterial supply was from the main pulmonary artery (Fig. 2). Anomalous origin of both coronary arteries is considered to be incompatible with life. Most of these patients were symptomatic before three days of age and died before two weeks of age [1–5]. Longer survival was associated with additional cardiovascular anomalies that increased pulmonary arterial perfusion pressure, oxygen saturation, or both [2]. Both high oxygen saturation (90.8%) and elevated perfusion pressure (57/16 mm Hg) in the pulmonary artery may have contributed to this baby’s survival. Early diagnosis and prompt repair of this rare defect are compatible with survival but fewer have a favorable outcome [4]. It remains a challenge for both cardiology and cardiac surgery.