A Turkish family with Ellis-van Creveld syndrome in six siblings; linkage analysis on 4p16 region (D4S3360-D4S2366).

We present a Turkish family and their 6 children, consecutively affected by Ellis-van Creveld (EVC) Syndrome. Four of the affected children died in the postnatal period, and 2 of them had been admitted to the pediatric cardiology department for their cardiologic evaluation. Since they had the features of the EVC Syndrome, linkage analysis was performed with the polymorphic markers, D4S3360-D4S2366, selected from 4p 16 locus. There was complete segregation between the disease and marker allels and the two affected siblings were homozygote for the polymorphic markers, as expected in autosomal recessive inheritance. The diagnosis of EVC Syndrome was confirmed by this molecular analysis. Two cases with EVC were presented in this report. Case 1 had partial abnormal pulmonary venous return and pulmonary stenosis additional to ostium primum atrial septal defect and mitral cleft. Partial abnormal pulmonary venous return and pulmonary stenosis were previously not reported with EVC Syndrome. Postaxial polydactyly phenotype of the Case 2 differs from her brother's. There is bifid 5th metacarpal and unilateral (L) bifid middle and distal phalanges resembling syndactyly.

Redo valve surgery with on-pump beating heart technique.

AIM: Reoperations have become of increasing frequency in the last four decades. Redo surgery is more complex than primary surgery and is associated with higher mortality and morbidity. We present our immediate and mid-term results of mitral and aortic prosthetic valve replacement undertaken with beating heart technique. METHODS: The prospective study included 26 consecutive redo valve surgery patients who underwent valve re-replacement. The operation was carried out on a beating heart using normothermic bypass without cross-clamping the aorta for mitral valve surgery and retrograde coronary sinus normothermic noncardioplegic blood perfusion during cross-clamping the aorta for aortic valve procedures. RESULTS: Twenty-six patients (mean age 50+/-15 years) underwent reoperation with beating heart technique. Twenty (76.9%) mitral prosthetic replacements, 4 (15.4%) aortic prosthetic replacements, and 2 (7.7%) double valve replacements were achieved. Fourteen patients (53.8%) were operated for prosthetic valve dysfunction. Eighteen patients (69.2%) were in NYHA class III or IV preoperatively. Mean bypass time was 85+/-30 min. Mean duration of ventilation was 13.6+/-6 h, mean intensive unit stay was 2.8+/-6.4 days, and mean hospital stay was 8.3+/-7.2 days. Two (7.7%) patients required high dose inotropic support and in one patient (3.8%) intra-aortic balloon support was required. Pulmonary complication occurred in 1 patient (3.8%), low cardiac output in 1 patient (3.8%), and re-exploration for bleeding in 2 patients (7.7%). Operative mortality was not observed. CONCLUSION: Normothermic on-pump beating heart valve replacement offers a safe alternative to cardioplegic arrest in high-risk group. Complication rates are low and perioperative mortality is lower than with conventional surgery. Beating heart technique has the advantage of maintaining physiologic condition of the heart throughout the procedure.

A new technique of myocardial protection during aortic root replacement: antegrade/retrograde coronary perfusion.

Aortic root surgery has traditionally been performed with an arrested and cooled heart using cardioplegia. A new technique of myocardial protection was utilized in the treatment of ascending aortic aneurysm with severe aortic valve regurgitation requiring aortic root replacement with the Cabrol technique. Retrograde and antegrade perfusion of the heart with blood allowed the surgical operation to be performed safely while the heart was beating and eliminated the ischemic reperfusion injury which occurs during cardioplegic arrest and reinstitution of blood perfusion after removal of the aortic cross-clamping required in traditional techniques.

Dobutamine stress echocardiography and left ventricular mass changes of mechanical aortic valve replacement in four years follow-up.

AIM: The aim of this study was to investigate the differences in cardiac response to stress according to the size of the prosthetic valve in patients who underwent aortic valve replacement (AVR) and to evaluate the relationship between the size of the prosthetic valve and cardiac recovery-remodeling after the operation. METHODS: Thirty patients who had undergone AVR (12 patients) or double valve replacement (18 patients) underwent dobutamine-stress echocardiography 4.2 years after the operation to evaluate response to stress . They were divided into 2 groups according to valve prosthesis size. The small-size AVR group (group 1, n=17) had prosthetic aortic valves 21 pounds mm; the large-size AVR group (group 2, n=13) had valves >21 mm. Response to stress and preoperative and postoperative echocardiographic findings were compared. Pulsed and continuous-wave Doppler studies were performed at rest and at the end of each stage. Peak and mean aortic gradients, left ventricular diastolic and systolic functions were measured for each group. RESULTS: Dobutamine stress increased heart rate and blood pressure in both groups. Peak pressure gradient across the aortic valve prostheses was 42.1 mm Hg in group 1 and 20.9 mm Hg in group 2 (P<0.05) at rest. After dobutamine infusion, the peak pressure gradient across the aortic valve prostheses increased to 85.1 mm Hg in group 1 and 54 mm Hg in group 2 (P<0.05). Isovolumetric relaxation time returned to normal in both groups following dobutamine infusion; this decrease was significant only in group 1. Patients achieved a decrease in left atrium and left ventricular diameters and volumes, as evidence of remodeling following AVR. Left ventricular mass index (LVMI) decreased from 127.6+/-47.6 to 98.1+/-36.9 and from 159.9+/-16.1 to 125.3+/-10.1 in groups 1 and 2, respectively, but this decline was not statistically significant. CONCLUSIONS: Smaller valves have higher gradients and this significant difference increases under stress. Significant improvement in echocardiographic diameters, cardiac filling volumes and LVMI reflects the benefit of the operation. Cardiac remodeling is independent of valve size, although high transprosthetic gradients occur during stress conditions.

Beating heart mitral valve replacement with retrograde coronary sinus perfusion technique.

AIM: The aim of this study was to assess the efficacy and applicability of on-pump beating heart mitral valve replacement with Sorin Bicarbon prosthesis using retrograde coronary sinus perfusion. METHODS: The prospective study included 17 consecutive patients who underwent mitral valve replacement with Sorin Bicarbon prosthesis using retrograde coronary sinus perfusion. The operative variables and early outcome of this procedure are presented. RESULTS: Retrograde coronary sinus perfusion and venting the heart from the aorta and from the pulmonary vein provided good visualization of the operative field and performance of the operations without any difficulty. Partial oxygen pressures of coronary sinus perfusion blood and the returning blood from the coronary ostia were 299.7+/-30.7 and 37.6+/-6.2 mmHg respectively. Postoperative peak creatine kinase-MB and troponin T values were 58+/-28.5 IU/L and 1.5+/-0.4 ng/mL, respectively. No mortality or major complication was observed and all the patients were discharged from the hospital in good condition. CONCLUSIONS: On-pump beating heart mitral valve replacement with Sorin Bicarbon is a good surgical option, and it has the advantage of maintaining physiologic condition of the heart throughout the procedure.

Repair of postinfarction ventricular septal defect through the right atrium.

Repair of post infarction posterior ventricular septal defect has generally been performed with a ventriculotomy through the infarcted zone. This approach has a significant mortality and morbidity due to haemorrhage, extension of infarction or further compromise of ventricular function secondary to suture placement. We present a case with delayed repair of a post infarction posterior septal defect using a right atrial approach, where no discrete infarct or other abnormality of the free ventricular wall was found.

Surgical drainage of late cardiac tamponade following open heart surgery.

BACKGROUND: There are few reports on postoperative late cardiac tamponade with surgical therapy in the literature. METHODS: Hospital records of 87 patients with postoperative late cardiac tamponade who had undergone cardiac surgery between January 1999 and December 2003 were evaluated retrospectively. RESULTS: Out of 8400 patients who had undergone cardiac surgery, 87 patients (1 %) had postoperative late cardiac tamponade. The incidence was 0.1 % for patients with coronary artery bypass grafting and 3.4 % for those with heart valve replacement ( p < 0.01). Subxiphoid midline incision was carried out in 67 patients (77 %). Conversion to re-sternotomy was required in 8 patients due to either ineffective drainage (5 patients, 7.5 %) or laceration and bleeding (3 patients, 4.5 %). Re-sternotomy was undertaken in 20 patients with no complication. Early death occurred in 3 patients with subxiphoid drainage (3.5 %), two of which were related to bleeding. Out of 84 patients who survived, 10 patients had recurrent cardiac tamponade, 5 of which required surgical drainage (6 %). CONCLUSIONS: Bleeding due to dense adhesions between the epicardium and the sternum may be encountered during subxiphoid drainage for postoperative late cardiac tamponade and lead to a 3 % mortality rate.

Implantation of novel small-diameter polyurethane vascular prostheses interposed in canine femoral and carotid arteries.

OBJECTIVES: The performance of small-diameter (3-5-mm) vascular grafts still poses a challenge in the field of vascular surgery. We present here our preliminary experience with implanting unique small-sized polycarbonate urethane vascular grafts in 7 dogs. MATERIAL AND METHODS: Each animal was implanted with 4 interposition grafts, 2 femoral and 2 carotid. No anti-thrombotic medication was administered. Doppler sonography was performed at 3-month intervals to examine for patency and flow characteristics. Animals were sacrificed electively at 3, 6 and 12 months. RESULTS: At 3 months, all grafts were patent. After 6 months, 3 grafts occluded and at 1 year a further 6 grafts occluded. Hence 9 of 28 grafts occluded (67.9% patency). During the study, no correlation could be established between flow velocity or resistance index and occlusion. Histopathology showed intimal hyperplasia to be the cause of occlusion. CONCLUSIONS: Compared to literature data on small-diameter grafts in the same position, ADIAM's Biomechanical grafts performed clearly better. Compliance data suggest a correlation between elastic compliance and patency.

Protein C, S and antithrombin III levels in patients with acute mechanical valve thrombosis.

BACKGROUND: Mechanical prosthetic heart valve thrombosis is a serious complication with an incidence of 1-6%. The reduction in active vitamin-K dependent protein C and S levels caused by warfarin treatment also results in a prothrombotic state. This study was conducted to investigate the connection between protein C (PC), protein S (PS), antithrombin III (ATIII) deficiency and prosthetic mechanical valve thrombosis. METHODS: Twenty-nine of the 283 patients who underwent valve replacement with St. Jude medical prosthesis had mechanical valve thrombosis (group 2). The rest were considered as group 1. Twelve of the 29 patients (41.4%) had isolated aortic valve replacement, 12 had isolated mitral valve replacement (41.4%) and 5 patients had double valve replacement (17.2%). Most of the patients had rheumatic valve disease at their 1st operation. The mean time of occurrence for mechanical valve occlusion was 4.1+/-1.0 years following surgery. RESULTS: The values of PC, PS and ATIII were obtained when the mechanical valves stuck or at routine follow-up. PC, PS and ATIII levels were significantly lower in the mechanical valve thrombosis group. PC levels were 75.4+/-37.6% and 49.9+/-32.2% in group 1 and 2, respectively (p=0.001). PC, PS and ATIII values were mostly lower in the 2nd group but this difference only became significant after at least 2 years of warfarin usage. CONCLUSIONS: Natural anticoagulant levels can be low during the use of warfarin. In which case the dose can be increased in order to hold the international normalized ratio (INR) at 3-3.5. However, more frequent follow-up is required and patients should be investigated for hypercoagulation states or deficiency in anticoagulant proteins. Patients referred to hospital with any mechanical valve thrombosis or recurrent thromboembolism should be evaluated for hypercoagulant proteins.

Mg++SO4 treatment improves the hemodynamics following the acute myocardial ischemia and reperfusion.

BACKGROUND: The effect of Mg++SO4 on myocardial hemodynamics was investigated in this study. METHODS: Twelve dogs were entered in this research. Six dogs received Mg++SO4 and the remaining dogs were considered as controls. The amount of Mg++SO4 that was administered to the animals was 0.15 mmol/kg/hr each. The left anterior descending artery was occluded for a period of 1 hour and the drug was administered during reperfusion. RESULTS: Two hours after reperfusion, cardiac output was 1275+/-50 ml/min in the control group and 1475+/-25 ml/min in the Mg++SO4 group (p<0.05), pulmonary capillary wedge pressure was 18+/-3 mmHg in the control group and 12+/-2 mmHg in the Mg++SO4 group. CONCLUSIONS: In this study it was shown that Mg++SO4 usage after 1 hour arterial occlusion and 2 hours reperfusion protects the heart from the adverse effects of ischemia/reperfusion and had a better central hemodynamics.

Prevention of intimal hyperplasia by single-dose pre-insertion external radiation in canine-vein interposition grafts.

OBJECTIVES: to evaluate the efficacy of single-dose pre-insertion gamma radiation of vein grafts in the prevention of intimal hyperplasia. METHODS: femoral artery interposition grafts with internal jugular vein were inserted in 12 mongrel dogs. The animals were randomly divided into two groups. Immediately before graft replacement, jugular veins were treated with a single dose of cobalt-60 radiation at 14 Gy or received no radiation (control group). Six weeks after graft insertion, the vein grafts were pressure-perfusion fixed and harvested for the histomorphometric analysis. Quantitative data on anastomotic stenosis were calculated from Gilman parameters after cross-sectional image analysis. RESULTS: vein grafts treated with radiation demonstrated significantly decreased neointima formation compared with grafts in the control group. The mean Gilman parameter for the control group was 1.09 S.E.M. 0.34 mm and for the radiotherapy group was 0.65 S.E. M. 0.23 mm (p<0.05). All vein grafts in the radiotherapy group had a decreased amount of intimal and cellular infiltration. CONCLUSION: single-dose external pre-insertion gamma radiation of vein grafts reduced the amount of intimal hyperplasia in this animal model.

Reduction of the infarcted area with the use of simplified coronary sinus retroperfusion during experimental coronary artery occlusion.

This study examined if the use of simplified coronary sinus retroperfusion would lead to any reduction in the infarcted area associated with improved right and left ventricular function. Twelve mongrel dogs were entered in this study. Following anesthesia, a fast response thermistor was placed on the pulmonary artery via the jugular vein and aorta via the left ventricular apex. The left anterior descending artery (LAD) was separated from the vein. A retrograde cardioplegia catheter was inserted into the coronary sinus. Following these procedures, LAD was occluded for a period of 3.5 h. After 30 min ischemia, the aorta-coronary sinus connection was established. The animals were divided into two equal groups. One group was not treated and was considered the control group (six animals). In the remaining group (six animals), retroperfusion was used and was considered the retroperfusion group. At the end of the study, the left ventricular ejection fraction was 65+/-15% in the retroperfusion group and 48+/-5% in the control group (P<0.05). The left ventricular stroke work index was 0.44+/-0.04 (g m/kg) in the retroperfusion group and 0.31+/-0.05 (g m/kg) in the control group (P<0.05). Cardiac output was 1650+/-75 ml/min in the retroperfusion group and 1250+/-125 ml/min in the control group. The ratio of the infarct size to the area at risk was 49+/-5% in the control group and 7+/-3% in the retroperfusion group. In light of these studies, we conclude that simplified coronary sinus retroperfusion appears to be an effective method that must be taken into consideration.