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Fulltext Cytogenetic and clinical profile of Down syndrome in Northeast Malaysia

Azman BZ, Ankathil R, Siti Mariam I, Suhaida MA, Norhashimah M, Tarmizi AB, et al.

Singapore Med J, 2007 Jun;48(6):550-4.
PMID: 17538755

This study was designed to evaluate the karyotype pattern, clinical features and other systemic anomalies of patients with Down syndrome in Malaysia.

Matched MeSH terms: Heart Defects, Congenital
Survival and Associated Risk Factors for Mortality Among Infants with Critical Congenital Heart Disease in a Developing Country

Mat Bah MN, Sapian MH, Jamil MT, Alias A, Zahari N

Pediatr Cardiol, 2018 Oct;39(7):1389-1396.
PMID: 29756159 DOI: 10.1007/s00246-018-1908-6

Critical congenital heart disease (CCHD) is associated with significant morbidity and mortality. However, data on survival of CCHD and the risk factors associated with its mortality are limited. This study examined CCHD survival and the risk factors for CCHD mortality. Using a retrospective cohort study of infants born with CCHD from 2006 to 2015, survival over 10 years was estimated using Kaplan-Meier analysis, and the risk factors for mortality were analyzed using multivariate Cox proportional hazards regression. A total of 491 CCHD cases were included in the study, with an overall mortality rate of 34.8% (95% confidence interval [CI] 30.6-39.2). The intervention/surgical mortality rate was 9.8% ≤ 30 days and 11.5% > 30 days after surgery, and 17% died before surgery or intervention. The median age at death was 2.7 months [first quartile: 1 month, third quartile: 7.3 months]. The CCHD survival rate was 90.4% (95% CI 89-91.8%) at 1 month, 69.3% (95% CI 67.2-71.4%) at 1 year, 63.4% (95% CI 61.1-65.7%) at 5 years, and 61.4% (95% CI 58.9-63.9%) at 10 years. Weight of

Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/mortality*
The birth prevalence, severity, and temporal trends of congenital heart disease in the middle-income country: A population-based study

Mat Bah MN, Sapian MH, Jamil MT, Abdullah N, Alias EY, Zahari N

Congenit Heart Dis, 2018 Nov;13(6):1012-1027.
PMID: 30289622 DOI: 10.1111/chd.12672

OBJECTIVES: There is limited data on congenital heart disease (CHD) from the lower- and middle-income country. We aim to study the epidemiology of CHD with the specific objective to estimate the birth prevalence, severity, and its trend over time.

DESIGN: A population-based study with data retrieved from the Pediatric Cardiology Clinical Information System, a clinical registry of acquired and congenital heart disease for children.

SETTING: State of Johor, Malaysia.

PATIENTS: All children (0-12 years of age) born in the state of Johor between January 2006 and December 2015.

INTERVENTION: None.

OUTCOME MEASURE: The birth prevalence, severity, and temporal trend over time.

RESULTS: There were 531,904 live births during the study period with 3557 new cases of CHD detected. Therefore, the birth prevalence of CHD was 6.7 per 1000 live births (LB) (95% confidence interval [CI]: 6.5-6.9). Of these, 38% were severe, 15% moderate, and 47% mild lesions. Hence, the birth prevalence of mild, moderate, and severe CHD was 3.2 (95% CI: 3.0-3.3), 0.9 (95% CI: 0.9- 1.1), and 2.6 (95% CI: 2.4-2.7) per 1000 LB, respectively. There was a significant increase in the birth prevalence of CHD, from 5.1/1000 LB in 2006 to 7.8/1000 LB in 2015 (P heart surgery program is required.

Study site: Hospital Sultanah Aminah (HSAJB), Johor

Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/economics; Heart Defects, Congenital/epidemiology*
Noncompaction cardiomyopathy manifesting as retinal artery occlusion

Jin-Poi T, Shatriah I, Ng SL, Zurkurnai Y, Yunus R

JAMA Ophthalmol, 2013 Feb;131(2):263-5.
PMID: 23411903 DOI: 10.1001/jamaophthalmol.2013.587
Matched MeSH terms: Heart Defects, Congenital/diagnosis*; Heart Defects, Congenital/drug therapy; Heart Defects, Congenital/physiopathology
Initial Clinical Trial of A Novel Pulmonary Valved Conduit

Prodan Z, Mroczek T, Sivalingam S, Bennink G, Asch FM, Cox M, et al.

Semin Thorac Cardiovasc Surg, 2021 May 10.
PMID: 33984478 DOI: 10.1053/j.semtcvs.2021.03.036

Valved allografts and xenografts for reconstruction of the right ventricular outflow tract (RVOT) lack durability and do not grow. We report the first clinical use of a completely bioabsorbable valved conduit (Xeltis pulmonary valve - XPV) in children. Twelve children (six male), median age five (two to twelve) years and median weight 17 (10 to 43) kg, underwent RVOT reconstruction with the XPV. Diagnoses were: pulmonary atresia with ventricular septal defect (VSD) (n=4), tetralogy of Fallot (n=4), common arterial trunk (n=3), and transposition of the great arteries with VSD and pulmonary stenosis (n=1). All had had previous surgery, including prior RVOT conduit implantation in six. Two diameters of conduit 16mm (n=5) and 18mm (n=7) were used. At 24 months none of the patients has required surgical re-intervention, 9 of the 12 are in NYHA functional class I and three patients in NYHA class II. None of the conduits has shown evidence of progressive stenosis, dilation or aneurysm formation. Residual peak gradient of >40 mm Hg was observed in three patients, caused by kinking of the conduit at implantation in 1 and distal stenosis in the peripheral pulmonary arteries in 2 patients. Five patients developed severe pulmonary valve insufficiency (PI); the most common mechanism was prolapse of at least one of the valve leaflets. The XPV conduit is a promising innovation for RVOT reconstruction. Progressive PI requires however an improved design (geometry, thickness) of the valve leaflets.

Matched MeSH terms: Heart Defects, Congenital
Fulltext The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key?

Daud AN, Bergman JE, Kerstjens-Frederikse WS, Groen H, Wilffert B

Int J Mol Sci, 2016 Aug 13;17(8).
PMID: 27529241 DOI: 10.3390/ijms17081333

Serotonin reuptake inhibitors (SRIs) are often prescribed during pregnancy. Previous studies that found an increased risk of congenital anomalies, particularly congenital heart anomalies (CHA), with SRI use during pregnancy have created concern among pregnant women and healthcare professionals about the safety of these drugs. However, subsequent studies have reported conflicting results on the association between CHA and SRI use during pregnancy. These discrepancies in the risk estimates can potentially be explained by genetic differences among exposed individuals. In this review, we explore the potential pharmacogenetic predictors involved in the pharmacokinetics and mechanism of action of SRIs, and their relation to the risk of CHA. In general, the risk is dependent on the maternal concentration of SRIs and the foetal serotonin level/effect, which can be modulated by the alteration in the expression and/or function of the metabolic enzymes, transporter proteins and serotonin receptors involved in the serotonin signalling of the foetal heart development. Pharmacogenetics might be the key to understanding why some children exposed to SRIs develop a congenital heart anomaly and others do not.

Matched MeSH terms: Heart Defects, Congenital/chemically induced*; Heart Defects, Congenital/genetics*
Fulltext Prenatal exposure to serotonin reuptake inhibitors and congenital heart anomalies: an exploratory pharmacogenetics study

Daud ANA, Bergman JEH, Kerstjens-Frederikse WS, van der Vlies P, Hak E, Berger RMF, et al.

Pharmacogenomics, 2017 Jul;18(10):987-1001.
PMID: 28639488 DOI: 10.2217/pgs-2017-0036

AIM: To explore the role of pharmacogenetics in determining the risk of congenital heart anomalies (CHA) with prenatal use of serotonin reuptake inhibitors.
METHODS: We included 33 case-mother dyads and 2 mother-only (child deceased) cases of CHA in a case-only study. Ten genes important in determining fetal exposure to serotonin reuptake inhibitors were examined: CYP1A2, CYP2C9, CYP2C19, CYP2D6, ABCB1, SLC6A4, HTR1A, HTR1B, HTR2A and HTR3B.
RESULTS: Among the exposed cases, polymorphisms that tended to be associated with an increased risk of CHA were SLC6A4 5-HTTLPR and 5-HTTVNTR, HTR1A rs1364043, HTR1B rs6296 and rs6298 and HTR3B rs1176744, but none reached statistical significance due to our limited sample sizes.
CONCLUSION: We identified several polymorphisms that might potentially affect the risk of CHA among exposed fetuses, which warrants further investigation.

Matched MeSH terms: Heart Defects, Congenital/chemically induced*; Heart Defects, Congenital/genetics
Misidentification of toxigenic Corynebacterium diphtheriae as a Corynebacterium species with low virulence in a child with endocarditis

Pennie RA, Malik AS, Wilcox L

J Clin Microbiol, 1996 May;34(5):1275-6.
PMID: 8727917

A 6-year-old boy presented to a university hospital in Malaysia with infective endocarditis complicating cyanotic congenital heart disease. Blood cultures showed a gram-positive, aerobic, coryneform-like bacillus identified by the hospital laboratory as Corynebacterium xerosis, but a reference laboratory identified the organism as a toxigenic strain of Corynebacterium diphtheriae. The two laboratories concurred on all biochemical test results except for sucrose fermentation.

Matched MeSH terms: Heart Defects, Congenital/complications
Pediatric cardiology in Asia

Vongprateep C

Cor Vasa, 1981;23(1):4-7.
PMID: 7238054

The problems of pediatric cardiology in Asia can be summarized as follows. In the countries like India, Indonesia, Malaysia, Pakistan and some other countries especially with government support like Thailand, the priority is primary health care. Except in Japan, cardiac care for children is not well supported financially. Training in pediatric cardiology is not readily available. Consequently small numbers of pediatric cardiologists, pediatric cardiac surgeons and active centres are available even in Japan. It is importannt to reduce the incidence of rheumatic fever and rheumatic heart disease by prevention of streptococcal infections and to increase the standard of living and environment. Transportation and referral system diagnosis, and treatment and follow-up is a special problem in neonatal care in relation to heart disease. Concentration of physicians, medical schools and cardiac centers in urban areas, old customs and poor understanding of people about the treatability and preventability of heart diseases in children complicate the improvement in the management of children with heart diseases.

Matched MeSH terms: Heart Defects, Congenital/epidemiology*
Fulltext Beyond Critical Congenital Heart Disease: Newborn Screening Using Pulse Oximetry for Neonatal Sepsis and Respiratory Diseases in a Middle-Income Country

Jawin V, Ang HL, Omar A, Thong MK

PLoS One, 2015;10(9):e0137580.
PMID: 26360420 DOI: 10.1371/journal.pone.0137580

Studies on pulse oximetry screening for neonatal sepsis and respiratory disease in a middle-income country are lacking. Newborn screening for critical congenital heart disease (CCHD) using pulse oximetry is an effective and life-saving strategy in developed countries. While most studies have reported false-positive results during CCHD screening, they have not elaborated on the detected disease types. We studied the effectiveness and outcomes of pulse oximetry newborn screening for non-cardiac hypoxemic diseases such as neonatal sepsis, respiratory diseases, and CCHD in a middle-income country.

Matched MeSH terms: Heart Defects, Congenital/diagnosis*; Heart Defects, Congenital/epidemiology
Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country

Zahari N, Mat Bah MN, A Razak H, Thong MK

Eur J Pediatr, 2019 Aug;178(8):1267-1274.
PMID: 31222391 DOI: 10.1007/s00431-019-03403-x

Limited data are available on the survival of patients with Down syndrome and congenital heart disease (CHD) from middle-income countries. This retrospective cohort study was performed to determine the trends in the prevalence and survival of such patients born from January 2006 to December 2015 in Malaysia. Among 754 patients with Down syndrome, 414 (55%) had CHD, and no significant trend was observed during the 10 years. Of these 414 patients, 30% had lesions that closed spontaneously, 35% underwent surgery/intervention, 9% died before surgery/intervention, and 10% were treated with comfort care. The overall mortality rate was 23%, the median age at death was 7.6 months, and no significant changes occurred over time. The early and late post-surgery/intervention mortality rates were 0.7% and 9.0%, respectively. Most deaths were of non-cardiac causes. The overall 1-, 5-, and 10-year survival rates were 85.5%, 74.6%, and 72.9%, respectively. Patients with severe lesions, persistent pulmonary hypertension of the newborn, atrioventricular septal defect, and pulmonary hypertension had low survival at 1 year of age.Conclusion: The prevalence of CHD in patients with Down syndrome is similar between Malaysia and high-income countries. The lower survival rate is attributed to limited expertise and resources which limit timely surgery. What is Known: • The survival of patients with Down syndrome with congenital heart disease (CHD) has improved in high-income countries. However, little is known about the survival of patients with Down syndrome with CHD from middle-income countries. • In the Caucasian population, atrioventricular septal defect is the most common type of CHD associated with Down syndrome. What is New: • In middle-income countries, the prevalence of CHD is the same as in high-income countries, but with a lower survival rate. • In the Asian population, ventricular septal defect is the most common type of CHD in patients with Down syndrome.

Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/epidemiology*; Heart Defects, Congenital/therapy
Protein loosing enteropathy after Fontan procedure

Vijayaraghavan R, Thay WY

Med J Malaysia, 2018 06;73(3):175-176.
PMID: 29962503 MyJurnal

Fontan and Baudet described the procedure in 1971 and was very useful to improve the quality of life in many complex cyanotic heart diseases. It has gone through various modifications since then to improve the outcome. The mortality was reported as 2.1% and survival rate of at 5 years, 10 years, 15 years and 20 years were 91%, 80%, 73%and 69% respectively. Though it was a useful palliative procedure to improve the quality of life, it has complications which may affect the morbidity and mortality like Protein loosing enteropathy ,reduced exercise capacity thromboembolism. The patients with protein losing enteropathy present with Pleural effusion, ascites, and edema and they need periodic replacement of Albumin and frequent reviews and close follow up in the management to reduce the mortality and to improve the quality of life .These complications we come across and they need our support in the management at district level hospitals.

Matched MeSH terms: Heart Defects, Congenital/surgery
Quantitative and qualitative comparison of low- and high-cost 3D-printed heart models

Lau I, Wong YH, Yeong CH, Abdul Aziz YF, Md Sari NA, Hashim SA, et al.

Quant Imaging Med Surg, 2019 Jan;9(1):107-114.
PMID: 30788252 DOI: 10.21037/qims.2019.01.02

Current visualization techniques of complex congenital heart disease (CHD) are unable to provide comprehensive visualization of the anomalous cardiac anatomy as the medical datasets can essentially only be viewed from a flat, two-dimensional (2D) screen. Three-dimensional (3D) printing has therefore been used to replicate patient-specific hearts in 3D views based on medical imaging datasets. This technique has been shown to have a positive impact on the preoperative planning of corrective surgery, patient-doctor communication, and the learning experience of medical students. However, 3D printing is often costly, and this impedes the routine application of this technology in clinical practice. This technical note aims to investigate whether reducing 3D printing costs can have any impact on the clinical value of the 3D-printed heart models. Low-cost and a high-cost 3D-printed models based on a selected case of CHD were generated with materials of differing cost. Quantitative assessment of dimensional accuracy of the cardiac anatomy and pathology was compared between the 3D-printed models and the original cardiac computed tomography (CT) images with excellent correlation (r=0.99). Qualitative evaluation of model usefulness showed no difference between the two models in medical applications.

Matched MeSH terms: Heart Defects, Congenital
Persistent valve of systemic venous sinus: a cause of neonatal cyanosis

Qureshi AU, Latiff HA, Sivalingam S

Cardiol Young, 2014 Aug;24(4):756-9.
PMID: 24016801 DOI: 10.1017/S1047951113001200

Incomplete involution of valve of systemic venous sinus can present across a spectrum of anatomical lesions ranging from eustachian valve to division of right atrium (cor triatriatum dexter) with overlapping features. We present the case of a neonate presenting with cyanosis, having persistent valve of systemic venous sinus with anatomical details of the redundant tissue in right atrium suggesting an intermediate form between Chiari network and division of right atrium.

Matched MeSH terms: Heart Defects, Congenital/complications; Heart Defects, Congenital/ultrasonography
Impact of ductal stenting on pulmonary artery reconstruction in patients with duct-dependent congenital heart diseases-an institutional experience

Haranal M, Mood MC, Leong MC, Febrianti Z, Abdul Latiff H, Samion H, et al.

Interact Cardiovasc Thorac Surg, 2020 08 01;31(2):221-227.
PMID: 32437520 DOI: 10.1093/icvts/ivaa069

OBJECTIVES: This study aims to review our institutional experience of ductal stenting (DS) on the growth of pulmonary arteries (PAs) and surgical outcomes of PA reconstruction in this subset of patients.
METHODS: This is a retrospective study done in neonates and infants up to 3 months of age with duct-dependent pulmonary circulation who underwent DS from January 2014 to December 2015. Post-stenting PA growth, surgical outcomes of PA reconstruction, post-surgical re-interventions, morbidity and mortality were analysed.
RESULTS: During the study period, 46 patients underwent successful DS, of whom 38 underwent presurgery catheterization and definite surgery. There was significant growth of PAs in these patients. Biventricular repair was done in 31 patients while 7 had univentricular palliation. Left PA augmentation was required in 13 patients, and 10 required central PA augmentation during surgery. The mean follow-up period post-surgery was 4.5 ± 1.5 years. No significant postoperative complications were seen. No early or follow-up post-surgery mortality was seen. Four patients required re-interventions in the form of left PA stenting based on the echocardiography or computed tomography evidence of significant stenosis.
CONCLUSIONS: DS provides good short-term palliation and the growth of PAs. However, a significant number of stented patients require reparative procedure on PAs at the time of surgical intervention. Acquired changes in the PAs following DS may be the reason for reintervention following PA reconstruction.

Matched MeSH terms: Heart Defects, Congenital/mortality; Heart Defects, Congenital/physiopathology; Heart Defects, Congenital/surgery*
Asymptomatic Balanced Double Aortic Arch Associated With Tetralogy of Fallot

Haranal M, Abdul Latiff HB, Sivalingam S

World J Pediatr Congenit Heart Surg, 2020 01;11(1):130-132.
PMID: 31835984 DOI: 10.1177/2150135119885889

Coexistence of asymptomatic balanced double aortic arch with tetralogy of Fallot (TOF) is extremely rare and represents a surgical dilemma in decision-making due to the lack of consensus on the management of this subset of patients. We report a case of asymptomatic balanced double aortic arch coexistent with TOF in a two-year-old girl.

Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/surgery
Fulltext The rare congenital anomaly of scimitar syndrome: an unusual presentation in symptomatic adult

Siti Zulaiha Binti Che Hat

Malaysian Journal of Medicine and Health Sciences, 2020;16(3):334-336.
MyJurnal

Scimitar syndrome is a rare congenital heart defect occurring in 1 to 3 per 100,000 live births. This is a case of a 26 years old lady presenting with episodic fainting spells since the age of 18 years old. She was initially diagnosed with epilepsy until a referral to our centre found a soft splitting of the second heart sound and multiple premature ventricular complexes on ECG. The computed tomography of the pulmonary artery confirmed the diagnosis if Scim- itar syndrome in the presence of anomalous single right pulmonary vein draining into infra-diaphragmatic systemic venous circulation. A corrective open-heart surgery to re-implant the pulmonary vein was performed with excellent clinical outcomes. Therefore, it is crucial for clinicians to embody high index of suspicion of congenital anomaly even in adults presenting with indefinite clinical symptoms. This report also represents the first published case of adult Scimitar syndrome from Malaysia.

Matched MeSH terms: Heart Defects, Congenital
Fulltext Pulmonary valve echocardiogram in the evaluation of pulmonary arterial hypertension in the presence of intracardiac shunts

Fong CY, Singham KT

Med J Malaysia, 1986 Sep;41(3):198-204.
PMID: 3670135

The purpose of this study was to assess M-mode echocardiographic criteria for pulmonary artery hypertension in patients with intracardiac shunts, and to observe any signs not previously described.
Forty-seven consecutive cardiac cathetherised patients with routine M-mode echocardiogram done were reviewed. Twenty-six patients had atrial septal defect, nine had ventricular septal defect (VSD), four had patent ductus arteriosus (PDA), five had Eisenmenger syndrome and three had combined VSD and PDA.
Fifteen of 20 patients with pulmonary artery mean pressure (PAMP) of more than 50 mmHg demonstrated diminished a-dip (p < 0.001), reduced e-f slope (p < 0.01) and increased b-e slope to > 380 mm/sec (p < 0.01). The presence of systolic flutter or mid-systolic notch, or both was not observed in patients with normal PAMP, but was noted in all of the 20 patients with raised pressure(> 50 mmHg).
This study confirms the limitation of M-mode echocardiographic features in the evaluation of pulmonary artery hypertension in patients with intracardiac shunt, though clinically useful.

Matched MeSH terms: Heart Defects, Congenital/physiopathology*
Large anomalous systemic arterial supply to the left lung without pulmonary sequestration: a rare cause of heart failure in a child

Wong MN, Joshi P, Sim KH

Pediatr Cardiol, 2009 Jan;30(1):85-6.
PMID: 18663510 DOI: 10.1007/s00246-008-9287-z

A 10-month-old boy was referred for tachypnea and heart murmur. An echocardiogram showed unexplained left heart dilation without evidence of an intracardiac shunt. A 64-slice computed tomographic contrast-enhanced angiography showed a large tortuous anomalous artery arising from the descending thoracic aorta and supplying the lower lobe of the left lung. The venous return into the left atrium was normal. The affected lobe had normal lung parenchyma, and its bronchial tree was connected normally with the left main bronchus. Hence, it was not a sequestrated lobe. The boy underwent surgical lobectomy of the left lower lobe and improved. Anomalous arterial supply of a lobe without sequestration of its bronchial tree is a rare pathologic entity. It also is a very rare cause of congestive heart failure in children. Computed tomographic angiography was a useful tool for evaluation of the intrathoracic anomalous vessel in this case.

Matched MeSH terms: Heart Defects, Congenital/diagnosis*; Heart Defects, Congenital/pathology
A Comparative Effectiveness Systematic Review and Meta-Analysis of Drugs for the Prophylaxis of Junctional Ectopic Tachycardia

Mendel B, Christianto, Setiawan M, Prakoso R, Siagian SN

Curr Cardiol Rev, 2021 Jun 03.
PMID: 34082685 DOI: 10.2174/1573403X17666210603113430

BACKGROUND: Junctional ectopic tachycardia (JET) is an arrhythmia originating from the AV junction, which may occur following congenital heart surgery, especially when the intervention is near the atrioventricular junction.
OBJECTIVE: The aim of this systematic review and meta-analysis is to compare the effectiveness of amiodarone, dexmedetomidine and magnesium in preventing JET following congenital heart surgery.
METHODS: This meta-analysis was conducted according to the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) statement, where 11 electronic databases were searched from date of inception to August 2020. The incidence of JET was calculated with the relative risk of 95% confidence interval (CI). Quality assessment of the included studies was assessed using the Consolidated Standards of Reporting Trials (CONSORT) 2010 statement.
RESULTS: Eleven studies met the predetermined inclusion criteria and were included in this meta-analysis. Amiodarone, dexmedetomidine and magnesium significantly reduced the incidence of postoperative JET [Amiodarone: risk ratio 0.34; I2= 0%; Z=3.66 (P=0.0002); 95% CI 0.19-0.60. Dexmedetomidine: risk ratio 0.34; I2= 0%; Z=4.77 (P<0.00001); 95% CI 0.21-0.52. Magnesium: risk ratio 0.50; I2= 24%; Z=5.08 (P<0.00001); 95% CI 0.39-0.66].
CONCLUSION: All three drugs show promise in reducing the incidence of JET. Our systematic review found that dexmedetomidine is better in reducing the length of ICU stays as well as mortality. In addition, dexmedetomidine also has the least pronounced side effects among the three. However, it should be noted that this conclusion was derived from studies with small sample sizes. Therefore, dexmedetomidine may be considered as the drug of choice for preventing JET.

Matched MeSH terms: Heart Defects, Congenital

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