Murat Koç

Association of MTHFR A1298C polymorphism with conotruncal heart disease

Congenital heart diseases are common congenital anomalies with 1% prevalence worldwide and are associated with significant childhood morbidity and mortality. Among a wide range of aetiologically heterogeneous conditions, conotruncal anomalies account for approximately one-third of all congenital heart defects. The aetiology of conotruncal heart diseases is complex, with both environmental and genetic causes. Hyperhomocysteinaemia, which is often accompanied by the defects of folic acid metabolism, is known to cause conotruncal heart anomalies. In this study, we have evaluated three polymorphisms in the following two hyperhomocysteinaemia-related genes: methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) and nicotinamide N-methyl transferase (NNMT rs694539) in 79 children with conotruncal heart disease and 99 children without conotruncal heart disease. Genotype distribution of the MTHFR A1298C polymorphism showed a statistically significant difference between the two groups. In the case group, AC and CC genotypes were higher than the control group (p<0.05). We have found that MTHFR A1298C polymorphism is associated with conotruncal heart disease; C allele (p=0.028), AC (OR[95% CI]=2.48[1.24-4.95], p=0.010), CC (OR[95% CI]=3.01[1.16-7.83], p=0.023), and AC+CC (OR[95% CI]=2.60[1.36-4.99], p=0.004) genotypes are more frequent in the patient group. Genotype distributions of the MTHFR C677T and NNMT rs694539 polymorphisms were similar in the two groups when evaluated separately and also according to the dominant genetic model (p>0.05). Our results suggest that MTHFR 1298C allele is a risk factor for conotruncal heart disease.

Translocation of anomalous right coronary artery to aortic side of the aortopulmonary window: a different approach for a rare combination.

Abstract  A case of aortopulmonary window associated with anomalous origin of the right coronary artery from the pulmonary artery in a four‐month‐old boy is reported in this paper with a different method of repair. In this patient, surgical repair was done by transferring the right coronary artery from the pulmonary artery to the aorta at the aortopulmonary window side. The defect at the pulmonary artery was repaired by a pericardial patch, so no other secondary opening was used for the aorta in order to reimplant the coronary artery.

A case of congenital abdominal aortic aneurysm complicated with bilateral renal arterial and venous thromboses after surgery.

1Department of Neonatology, Dr Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey; 2Department of Radiology, Dr Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey; 3Department of Cardiovascular Surgery, Dr Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey; 4Department of Pediatric Cardiology, Dr Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey; 5Department of Pediatric Cardiology, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey

Parsiyel anormal pulmoner venöz dönüş anomalisi ile intakt atrial septum birlikteliği: Nadir bir konjenital anomali

Intakt atriyal septumlu parsiyel anormal pulmoner venoz donus anomalisi cocuk yas grubunda genellikle asemptomatiktir. Cogu zaman elimizdeki rutin tani araclari olan EKG, telekardiyografi, ekokardiyografi hatta kateter anjiyografi ile taninmasi zordur. Klinigimizde tani alan ve cerrahi olarak tedavi edilen hastamizi anomalinin karakteristikleri, klinik gidis, tani araclari ve cerrahi tedavi statejileri yonlerinden tartistik.

Ivemark syndrome with cor triatriatum, primum ASD, cleft mitrale and pulmonary stenosis

Ivemark syndrome is a rare anomaly with a reported incidence of 1 in 10000 – 20000 live births. It is characterized by agenesis of spleen, a dextropozed, hypoplastic or lobulated spleen or multiple spleens in association with complex cardiac anomalies. These malformations are usually associated with trilobulated or bilobulated lungs and abnormalities of other abdominal organs. Here we report a case of Ivemark syndrome, accompanied by polysplenia, accessory gall bladder, dilatation of the intrahepatic ducts, cor triatriatum, primum ASD, pulmonary stenosis, dysmorphic face and mild mental retardation.

PP-078 Pericardial Effusion in Childhood: Experience from Tertiary Care Center in Ankara

Pericardial Effusion in Childhood: Experience from Tertiary Care Center in Ankara. Tamer Yoldas, Ozkan Kaya, Şeyma Kayali, Ilker Ertu grul, Vehbi Do gan, Senem Ozgur, Utku Arman Orun, Selmin Karademir, Murat Koc. Department of Pediatric Cardiology, Dr. Sami Ulus Maternity and Children Research and Training Hospital; Department of Pediatric Cardiovascular Surgery, Dr. Sami Ulus Maternity and Children Research and Training

Multiple Gallstone Formation due to Ceftriaxone Treatment in a Child Diagnosed with Infective Endocarditis

Ceftriaxone, a third-generation cephalosporin, has been known to cause reversible sludge in the gallbladder. This sludge is referred to as biliary pseudolithiasis. In this article, a six-year-old child diagnosed with infective endocarditis is presented. He suffered from abdominal pain during the treatment with ceftriaxone and we performed an abdominal ultrasonographic examination that revealed multiple stones in the gallbladder. His symptoms quickly disappeared after the cessation of the treatment with ceftriaxone and we observed a significant decrease in size and number of the gallstones. Ceftriaxone is a commonly used drug in childhood and may cause gallstone formation. These gallstones usually resolve spontaneously and do not necessitate any surgical procedure.

High postoperative serum levels of surfactant type B as novel prognostic markers for congenital heart surgery

Objective Congenital heart diseases are observed in 5 to 8 of every 1000 live births. The presence of a valuable biomarker during the surgical periods may aid the clinician in a more accurate prognosis during treatment. Methods For this reason, surfactant protein B plasma levels may help to evaluate patients with cardiac problems diminishing the alveolocapillary membrane stability. In this study, plasma levels of this biomarker were measured in the preoperative and postoperative periods. This study was conducted to detect the differences between pulmonary hypertensive and normotensive patients. The differences before and after cardiopulmonary bypass were examined. Results The differences in cardiopulmonary bypass time, cross-clamp time , inotropic support dose, and duration of intensive care of patients with and without pulmonary hypertensive were found to be statistically significant (P<0.05). The results revealed that this pathophysiological state was related to other variables that were studied. We believe that the differences in preoperative and postoperative SPB levels could be attributed to alveolocapillary membrane damage and alveolar surfactant dysfunction. We found that this pathophysiological condition was significantly associated with postoperative parameters. Conclusion The findings of the current study showed that surfactant protein B was present in the blood of patients with a congenital heart disease during the preoperative period. Long by-pass times may exert damage to the alveolocapillary membrane in patients with pulmonary hypertension and preoperative heart failure, and it is recommended to keep the option of surfactant therapy in mind during the postoperative course at the intensive care unit before preparing the patients for extubation.