High prevalence of VKORC1*3 (G9041A) genetic polymorphism in north Indians: A study on patients with cardiac disorders on acenocoumarol.

Coumarin derivatives such as warfarin and acenocoumarol are used in various disorders such as deep venous thrombosis, pulmonary embolism, atrial fibrillation and artificial heart valves. They have improved prognosis of patients with thromboembolic disease. An individual's response to coumarins depends on several factors. The non-genetic factors include age, gender, body mass index, diet and interacting drugs. Among the genetic factors, the cytochrome P450 system and vitamin K epoxide reductase complex subunit 1 play a key role in drug metabolism. This was a prospective hospital based study in which allele and genotypic frequencies of CYP2C9 gene polymorphisms; 430C>T and 1075A>C and VKORC1 gene polymorphisms; 1639G>A, 9041G>A and 6009C>T in 106 alleles of north Indian patients with valve replacement on acenocoumarol were determined and their effect on acenocoumarol dosing was studied. To the best of our knowledge, this is first report of VKORC1 9041G>A and 6009C>T gene polymorphisms and their effect on acenocoumarol dosing from north India. In 53 patients with valve replacement on acenocoumarol with stable INR, the allele frequency of CYP2C9*2 and CYP2C9*3 gene polymorphisms was 0.05 and 0.17 respectively and that of VKORC1 *2,*3 and *4 gene polymorphisms was 0.15, 0.72 and 0.11 respectively. The presence of CYP2C9*3 or VKORC1*2 gene polymorphism were associated with decrease in acenocoumarol dose requirements (p values 0.03 and 0.02 respectively).This study confirmed the association of lower mean weekly dosages of acenocoumarol in patients with CYP2C9*3 and VKORC1*2 gene polymorphisms. An unusually high frequency of 9041A polymorphism in VKORC1 was found in study population.

Rare variant of mixed total anomalous pulmonary venous connection.

Mixed variety of Total anomalous pulmonary venous connection is a rare congenital heart disorder with a wide variation of pulmonary venous anatomy and their drainage. Present article depicts "3+1" variant of mixed TAPVC treated by rechannelizing all pulmonary veins to left atrium using a Polytetrafleuroethylene patch.

Acute superior vena cava obstruction due to tight pericardial closure following congenital defect repair.

The obstruction of the superior vena cava (SVC) of acute onset nature following surgery is a rare and serious condition. The tight closure of the pericardium over the heart during surgical procedures may cause external compression on the SVC. Echocardiography and Computed tomography (CT) scan aids in the diagnosis. Cutting open the pericardial stitches relieves the condition.

Thymectomy through lateralized partial sternotomy.

A young woman with nonthymomic myasthenia gravis with failure of medical treatment was offered thymectomy through partial sternotomy. Shifting of vertical arm of "L" incision laterally avoids fracture of opposite sternal flange and provides better sternal stability postoperatively.

Multidetector CT angiography in pulmonary sequestration.

PURPOSE: To evaluate the role of multidetector CT angiography in the diagnosis and preoperative assessment of pulmonary sequestration with angiographic or surgical correlation. METHODS: Eight patients (5 males, 3 females) in the age range of 2 days to 35 years suspected of having pulmonary sequestration on the basis of clinical history and chest radiographs were included in the study. All patients underwent CT angiography (4 or 16 slice) and MPVR, MIP and 3D volume rendered images were generated. The axial images were also reviewed at soft tissue and lung window settings to evaluate the parenchymal changes. RESULTS: CT angiography showed five pulmonary sequestrations on the left and three on the right, located in the basal segments (n = 7) or paravertebral region (n = 1). Aberrant systemic arterial supply was demonstrated in all cases: from the descending thoracic aorta (n = 2); abdominal aorta (n = 3) and celiac axis (n = 3). Venous drainage into inferior pulmonary veins was demonstrated in 4 patients. The angioarchitecture depicted on CT angiography was confirmed on surgery in five patients and by DSA in two patients who subsequently underwent embolization using PVA particles and/or coils. CONCLUSION: The ability of CT angiography to simultaneously image the arterial supply, venous drainage and parenchymal changes in a single examination makes it the imaging modality of choice for the diagnosis and preoperative assessment of pulmonary sequestration.