Displaying publications 61 - 80 of 80 in total

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  1. Congenital cyanotic heart disease with situs inversus totalis: an autopsy case report
    Dayapala A, Kumar V
    Am J Forensic Med Pathol, 2009 Jun;30(2):171-4.
    PMID: 19465810 DOI: 10.1097/PAF.0b013e3181875a79
    Sudden deaths because of congenital heart diseases are infrequently referred to the forensic pathologist for autopsy. Many of such deaths, if already diagnosed are released directly from the hospital without autopsy. Even forensic pathologists face a few difficulties in performing the autopsy on such infrequent cases, as they are not always updated with the anatomy of anomalies. While dealing with such cases, the concerned forensic pathologist is compelled to refer literature and textbooks again to understand the nature of developmental defects. This is especially so when dealing with cases of situs inversus accompanied by transposition of great arteries and other congenital cardiac abnormalities and variants such as single ventricle, double outlet right ventricle, Taussig-Bing variety etc. In the present case also, situs inversus with transposition of great vessels and other anomalies have been noted and studied.
    Matched MeSH terms: Heart Defects, Congenital/pathology*
  2. Eikenella corrodens from a brain abscess
    Karunakaran R, Marret MJ, Hassan H, Puthucheary SD
    Malays J Pathol, 2004 Jun;26(1):49-52.
    PMID: 16190107
    A 2-year-old boy with underlying congenital cyanotic heart disease presented with seizures and fever and was found to have bilateral parietal cerebral abscesses. Drainage of the pus from the abscesses was done in stages; on the day of admission, four days after admission and 3 weeks after admission. Although the pus from the first drainage did not grow any organisms, the pus from the second drainage on the fourth day of admission yielded a mixed growth of Eikenella corrodens and Streptococcus milleri. Following the second drainage of pus, the child was noted to have mild weakness (grade 3/5) and increased tone in the left upper limb. Three weeks after admission, due to recurring fever, further neurological signs and findings of an enlarging right cerebral abscess on a repeat CT scan, a third drainage was carried out. However no growth was obtained from this specimen. This patient was managed both surgically and with appropriate antibiotics. Over the next four months, serial CT scans revealed gradual resolution of the abscesses with disappearance of the surrounding oedema. The child showed gradual recovery of his left sided weakness with resolution of tone and reflexes to normal.
    Matched MeSH terms: Heart Defects, Congenital/complications
  3. The bacteriology of brain abscess: a local experience in Malaysia
    Puthucheary SD, Parasakthi N
    Trans R Soc Trop Med Hyg, 1990 7 1;84(4):589-92.
    PMID: 2091359
    31 cases of intracranial abscess seen over a period of 10 years showed a peak incidence in the second and third decades of life with a male preponderance. Tetralogy of Fallot and other congenital cyanotic heart diseases were the predominant associated factors (32%). The commonest site of infection was the frontal lobe. Gram-stained smears of pus proved to be extremely useful. The majority of the organisms (82%) were either microaerophilic or anaerobic bacteria with Streptococcus milleri being the most frequent isolate. With the exception of Corynebacterium species, all isolates were susceptible to penicillin or chloramphenicol, most being susceptible to both.
    Matched MeSH terms: Heart Defects, Congenital/complications
  4. Fulltext Cardiac surgery in General Hospital, Kuala Lumpur: review of all open-heart operations. April 1982 to February 1987
    Awang Y, Haron A, Sallehuddin A
    Med J Malaysia, 1987 Jun;42(2):81-5.
    PMID: 3503194
    The Cardiothoracic Department, General Hospital, Kuala Lumpur which was set up in April 1982, deals with a wide range of cardiac disease, general thoracic and also vascular cases. A total of 2,450 operations were performed from April 1982 to February 1987, and 79.3% of these were for cardiac cases (open and closed heart). This paper reports a review of the 1,110 consecutive open heart operations performed by the Department during the stated period.
    Matched MeSH terms: Heart Defects, Congenital/surgery
  5. Cardiovascular disease in a West Malaysian town. A survey in general practice
    Balasundaram R
    Trans R Soc Trop Med Hyg, 1970;64(4):607-14.
    PMID: 5485621 DOI: 10.1016/0035-9203(70)90085-4
    The pattern and incidence of cardiovascular disease was studied in a general practice in an urban-rural area in the west coast of West Malaysia. Hypertension, rheumatic heart disease and congenital heart disease accounted for 85% of the 476 patients with evidence of cardiovascular disease. Ischaemic heart disease, arteriosclerotic heart disease and other conditions accounted for the rest. Emphasis is laid on the salient features of incidence in general practice. Comparison is made with previous clinical and pathological studies from this region.
    Study site: General practjce clinic, Telok Anson [Teluk Intan], District of Lower Perak, Malaysia
    Matched MeSH terms: Heart Defects, Congenital/epidemiology
  6. Pulmonary atresia with intact septum: the use of Conquest Pro coronary guidewire for perforation of atretic valve and subsequent interventions
    Alwi M, Budi RR, Mood MC, Leong MC, Samion H
    Cardiol Young, 2013 Apr;23(2):197-202.
    PMID: 22640635 DOI: 10.1017/S1047951112000595
    Objective: To determine the feasibility and safety of the Conquest Pro wire as an alternative to radiofrequency wire for perforation of atretic pulmonary valve and subsequent balloon dilatation and patent ductus arteriosus stenting in patients with pulmonary atresia with intact ventricular septum.
    Background: Radiofrequency valvotomy and balloon dilatation has become the standard of care for pulmonary atresia with intact ventricular septum in many institutions today.
    Methods: We report eight consecutive patients in whom we used the Conquest Pro coronary guidewire, a stiff wire normally reserved for revascularisation of coronary lesions with chronic total occlusion, for perforation of atretic pulmonary valve and subsequent balloon dilatation, and stenting of the patent ductus arteriosus.
    Results: Perforation of atretic pulmonary valve was successful in seven out of eight cases. Radiofrequency valvotomy was employed after failure of perforation by the Conquest Pro wire in one case where the right ventricular outflow tract was broad based and tapered towards the pulmonary valve, and was heavily trabeculated. Failure of the Conquest Pro wire to perforate the pulmonary valve plate was mainly attributed by the failure to engage the wire at the correct position.
    Conclusion: The Conquest Pro wire for perforation and subsequent interventions in the more straightforward cases of pulmonary atresia with intact ventricular septum is effective and safe, simplifying the entire procedure. However, the radiofrequency generator and wires remain essential tools in the paediatric interventional catheter laboratory.
    Matched MeSH terms: Heart Defects, Congenital/surgery*
  7. Fulltext Twin reverse arterial perfusion sequence
    Nik Lah NA, Che Yaakob CA, Othman MS, Nik Mahmood NM
    Singapore Med J, 2007 Dec;48(12):e335-7.
    PMID: 18043831
    Twin reverse arterial perfusion sequence occurs in approximately one percent of monochorionic twins. This condition is always fatal for the recipient twin and carries a high mortality rate for the pump twin. Various treatment options are described, but management is continually evolving with the publication of new data. We report an acardiac acephalic monochorionic twin who was diagnosed at 31 weeks gestation. Serial ultrasonographical examinations of the normal pump twin showed intrauterine growth restriction but with no evidence of heart failure. A healthy pump twin was delivered by caesarean section at 34 weeks.
    Matched MeSH terms: Heart Defects, Congenital/ultrasonography*
  8. 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
  9. Microbiology of cerebral abscess: a four-year study in Malaysia
    Pit S, Jamal F, Cheah FK
    J Trop Med Hyg, 1993 Jun;96(3):191-6.
    PMID: 8505776
    A prospective study was carried out to determine the aetiology of cerebral abscess in relation to the primary source of infections. Seventy-five patients with cerebral abscess were included in the study in the period January 1985 to December 1988. More than half of the patients studied had single lesions and the overall most common sites were in the frontal and parietal regions. Chronic suppurative otitis media, cyanotic congenital heart diseases and meningitis were among the important predisposing conditions in these patients. Approximately 25% of the patients with cerebral abscesses had no documented antecedent infections. Pure cultures were found to be predominant (66.7%) and sterile cultures were obtained from 10 (13.3%) patients. Streptococci were isolated from 23 (30.7%) patients, the commonest species being Streptococcus milleri. Proteus sp, Pseudomonas aeruginosa, Pseudomonas putrifaciens and Bacteroides sp were almost exclusively found in cerebral abscesses secondary to chronic suppurative otitis media; these organisms were found in mixed cultures. Streptococcus milleri, Bacteroides sp and Eikenella corrodens were found in pure cultures in patients with cyanotic congenital heart disease. In patients with ventriculoperitoneal shunts in-situ, Staphylococcus aureus, Staphylococcus epidermidis and diphtheroids were common. Anaerobes were found in 15 (20.0%) patients, the majority in mixed cultures. Culture, as well as gas-liquid chromatographic analysis of volatile fatty acids of cerebral pus, was carried out to enhance the detection of the anaerobes. Based on these findings, an antibiotic regimen consisting of penicillin, chloramphenicol and metronidazole is recommended as an initial therapy while awaiting culture and sensitivity results.
    Matched MeSH terms: Heart Defects, Congenital/complications
  10. Fulltext Stenting the ductus arteriosus: Case selection, technique and possible complications
    Alwi M
    Ann Pediatr Cardiol, 2008 Jan;1(1):38-45.
    PMID: 20300236 DOI: 10.4103/0974-2069.41054
    Ductal stenting is an attractive alternative to conventional shunt surgery in duct dependent congenital heart disease as it avoids thoracotomy and its related problems. With today's generation of coronary stents which have better profile, flexibility and trackability, ductal stenting may be achieved safely and with considerably less difficulty than previously described.As in Blalock-Taussig (BT) shunt, ductal stenting is indicated mainly in duct-dependent cyanotic lesions chiefly in the neonatal period. Unlike the Patent ductus arteriosus (PDA) as an isolated lesion, the ductus in cyanotic heart disease has a remarkable morphologic variability. The ductus tends to arise more proximally under the aortic arch, giving rise to a vertical ductus or occasionally it may arise from the subclavian artery. It also tends to be long and sometimes very tortuous, rendering stent implantation technically impossible. The ductus in these patients may also insert onto one of the branch pulmonary arteries with some stenosis at the site of insertion. The ductus in Tetralogy of Fallot with pulmonary atresia (TOF-PA) tend to exhibit these morphologic features and to a lesser degree in transposition of great arteries with ventricular septal defect and pulmonary atresia (TGA-VSD-PA) and the more complex forms of univentricular hearts. In the preliminary angiographic evaluation, it is important to delineate these morphologic features as the basis for case selection.Ductal stenting may be done by the retrograde femoral artery route or the antegrade transvenous route depending on the ductus morphology and the underlying cardiac lesion. The detailed techniques and essential hardware are described. Finally, major potential complications of the procedure are described. Acute stent thrombosis is the most serious and potentially catastrophic. Emergent treatment with thrombolytic therapy and mechanical disruption of thrombus are required. With proper case selection, appropriate technique and the right hardware ductal stenting provides reasonable short-medium term palliation in duct-dependent cyanotic heart disease.
    Matched MeSH terms: Heart Defects, Congenital
  11. A Case of Paraganglioma with Cyanotic Congenital Heart Disease
    Wahab NA, Chien BH, Omar MR, Aziz AA, Mustafa N, Sukor N, et al.
    Acta Med Indones, 2021 Jan;53(1):77-81.
    PMID: 33818409
    Co-occurrence of cyanotic congenital heart disease (CCHD) and phaeochromocytoma (PCC) and paraganglioma (PGL) are rare, although some cases have been reported. We report a case of left paraganglioma in a 20-year-old lady with an underlying CCHD who underwent palliative Glenn shunt, subsequently developed polycythaemia and cavernous sinus thrombosis presented with palpitation, sweating, headache and hypertension of 3-months duration at the age of 17. The abdominal CT scan revealed an enhancing left paraaortic mass measuring 5.2 cm x 4.4 cm x 3.8 cm. A 24-hour urine catecholamine demonstrated raised noradrenaline level to six times upper limit of normal and hence diagnosis of left sympathetic (sPGL) was made. In view of the delayed diagnosis and significant morbidity associated with her condition, surgical treatment is no longer an option. Therefore, vigilant screening and early treatment of PCC-PGL in patients with CCHD are crucial in order to avoid significant morbidity and ensure a good quality of life.
    Matched MeSH terms: Heart Defects, Congenital
  12. Fulltext Birth prevalence and late diagnosis of critical congenital heart disease: A population-based study from a middle-income country
    Mat Bah MN, Sapian MH, Alias EY
    Ann Pediatr Cardiol, 2020 09 17;13(4):320-326.
    PMID: 33311920 DOI: 10.4103/apc.APC_35_20
    Aims: There are limited data regarding critical congenital heart disease (CCHD) from middle-income countries (MIC). This study aims to determine the birth prevalence, rate of late diagnosis, and influence of timing of diagnosis on the outcome of CCHD.

    Setting and Design: Retrospective observational cohort study in the State of Johor, Malaysia.

    Subjects and Methods: All infants born between January 2006 and December 2015 with a diagnosis of CCHD, defined as infants with duct-dependent lesions or cyanotic heart disease who may die without early intervention. The late diagnosis was defined as a diagnosis of CCHD after 3 days of age.

    Results: Congenital heart disease was diagnosed in 3557 of 531,904 live-born infants and were critical in 668 (18.7%). Of 668, 347 (52%) had duct-dependent pulmonary circulation. The birth prevalence of CCHD was 1.26 (95% confidence interval: 1.16-1.35) per 1000 live births, with no significant increase over time. The median age of diagnosis was 4 days (Q1 1, Q3 26), with 61 (9.1%) detected prenatally, and 342 (51.2%) detected late. The highest rate of late diagnosis was observed in coarctation of the aorta with a rate of 74%. Trend analysis shows a statistically significant reduction of late diagnosis and a significant increase in prenatal detection. However, Cox regression analysis shows the timing of diagnosis does not affect the outcome of CCHD.

    Conclusions: Due to limited resources in the MIC, the late diagnosis of CCHD is high but does not affect the outcome. Nevertheless, the timing of diagnosis has improved over time.

    Matched MeSH terms: Heart Defects, Congenital
  13. Fulltext A case study of distinctive phenotypes arising from emanuel syndrome in two karyotypically identical patients
    Mot Yee Yik, Rabiatul Basria S.M.N. Mydin, Emmanuel Jairaj Moses, Shahrul Hafiz Mohd Zaini, Abdul Rahman Azhari, Narazah Mohd Yusoff
    Malaysian Journal of Medicine and Health Sciences, 2020;16(102):78-80.
    MyJurnal
    Emanuel syndrome, also referred to as supernumerary der(22) or t(11;22) syndrome, is a rare genomic syndrome. Patients are normally presented with multiple congenital anomalies and severe developmental disabilities. Affected newborns usually carry a derivative chromosome 22 inherited from either parent, which stems from a balanced translocation between chromosomes 11 and 22. Unfortunately, identification of Emanuel syndrome carriers is diffi- cult as balanced translocations do not typically present symptoms. We identified two patients diagnosed as Emanuel syndrome with identical chromosomal aberration: 47,XX,+der(22)t(11;22)(q24;q12.1)mat karyotype but presenting variable phenotypic features. Emanuel syndrome patients present variable phenotypes and karyotypes have also been inconsistent albeit the existence of a derivative chromosome 22. Our data suggests that there may exist ac- companying genetic aberrations which influence the outcome of Emanuel syndrome phenotypes but it should be cautioned that more patient observations, diagnostic data and research is required before conclusions can be drawn on definitive karyotypic-phenotypic correlations.

    Matched MeSH terms: Heart Defects, Congenital
  14. Safety and Effectiveness of Del Nido Cardioplegia in Comparison to Blood-Based St. Thomas Cardioplegia in Congenital Heart Surgeries: A Prospective Randomized Controlled Study
    Haranal M, Chin HC, Sivalingam S, Raja N, Mohammad Shaffie MS, Namasiwayam TK, et al.
    World J Pediatr Congenit Heart Surg, 2020 Nov;11(6):720-726.
    PMID: 33164692 DOI: 10.1177/2150135120936119
    BACKGROUND: To compare the safety and effectiveness of del Nido cardioplegia with blood-based St Thomas Hospital (BSTH) cardioplegia in myocardial protection in congenital heart surgery.

    METHODS: It is a prospective, open-labeled, randomized controlled study conducted at National Heart Institute, Kuala Lumpur from July 2018 to July 2019. All patients with simple and complex congenital heart diseases (CHD) with good left ventricular function (left ventricular ejection fraction [LVEF] >50%) were included while those with LVEF <50% were excluded. A total of 100 patients were randomized into two groups of 50 each receiving either del Nido or BSTH cardioplegia. Primary end points were the spontaneous return of activity following aortic cross-clamp release and ventricular function between two groups. Secondary end point was myocardial injury as assessed by troponin T levels.

    RESULTS: Cardiopulmonary bypass and aortic cross-clamp time, return of spontaneous cardiac activity following the aortic cross-clamp release, the duration of mechanical ventilation, and intensive care unit stay were comparable between two groups. Statistically significant difference was seen in the amount and number of cardioplegia doses delivered (P < .001). The hemodilution was significantly less in the del Nido complex CHD group compared to BSTH cardioplegia (P = .001) but no difference in blood usage (P = .36). The myocardial injury was lesser (lower troponin T release) with del Nido compared to BSTH cardioplegia (P = .6).

    CONCLUSION: Our study showed that both del Nido and BSTH cardioplegia are comparable in terms of myocardial protection. However, single, less frequent, and lesser volume of del Nido cardioplegia makes it more suitable for complex repair.

    Matched MeSH terms: Heart Defects, Congenital
  15. 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
  16. 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
  17. 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
  18. Fulltext Mutations in KIF27, GNAS and IFT140 genes in a patient with VACTERL association: a case report
    Siti Aishah Sulaiman, Nor Azian Abdul Murad, Chow, Yock Ping, Zam Zureena Mohd Rani, Salwati Shuib, Dayang Anita A. Aziz, et al.
    Asia-Pacific Journal of Molecular Medicine, 2018;8(2):1-10.
    MyJurnal
    VACTERL association is a rare genetic disorder involving at least three of the following congenital
    malformations: vertebral defects (V), anal atresia (A), cardiac defects (C), trachea-oesophageal fistula with
    or without oesophageal atresia (TE), renal anomalies (R) and limb abnormalities (L). Until now, the
    aetiology of VACTERL association is unknown, particularly at the molecular level. Here, we performed
    whole exome sequencing (WES) of an infant with VACTERL association. The patient was delivered
    prematurely at 30 weeks and had 4/6 of the VACTERL malformations. Trio-WES analysis was performed
    using Torrent Suite and ANNOVAR. Polymorphisms with an allele frequency of >0.01 were excluded, and
    the remaining variants were filtered based on de novo mutations, autosomal recessive, X-linked and di-genic
    inheritance traits. In this patient, no homozygous, compound heterozygous or X-linked mutations was
    associated with VACTERL. However, we identified two heterozygous mutations; KIF27
    (ENST00000297814: c.3004A> C:p.N1002H) and GNAS (ENST00000371098: c.205C>A:p.H69N) genes that
    were inherited from her father and mother respectively. A de novo, IFT140 gene mutation
    (ENST00000426508: c.683C>G:p.S228C) was also identified in this patient. The VACTERL phenotype in
    this patient may due to heterozygous mutations affecting KIF27 and GNAS genes, inherited via autosomal
    recessive trait. In addition, the IFT140 gene mutation may also be involved. These genes are known to be
    directly or non-directly involved in the sonic hedgehog signalling that is known to be implicated in
    VACTERL. This is the first report of these genetic mutations in association with VACTERL.
    Matched MeSH terms: Heart Defects, Congenital
  19. Dexmedetomidine and ketamine sedation for dental extraction in children with cyanotic heart disease
    Hasan MS, Chan L
    J Oral Maxillofac Surg, 2014 Oct;72(10):1920.e1-4.
    PMID: 24985961 DOI: 10.1016/j.joms.2014.03.032
    Treating children with cyanotic congenital heart disease poses many challenges to anesthesiologists because of the multiple problems associated with the condition. The anesthetic technique and drugs used perioperatively can affect a patient's physiologic status during surgery. The adherence to certain hemodynamic objectives and the avoidance of factors that could worsen the abnormal cardiopulmonary physiology cannot be overemphasized. In the present case series, we describe the use of a dexmedetomidine-ketamine combination for dental extraction in spontaneously breathing children with cyanotic congenital heart disease. The anesthetic concerns regarding airway management, the pharmacologic effects of drugs, and maintenance of adequate hemodynamic, blood gases, and acid-base status are discussed.
    Matched MeSH terms: Heart Defects, Congenital/complications*
  20. 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
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