A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey.

Townes-Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary malformations, and anomalies of eye and nervous system. Definitive diagnosis for TBS is confirmed by molecular analysis for mutations in the SALL1 gene. Only one known case of TBS with absent pulmonary valve syndrome (APVS) has been previously described to our knowledge. Here, we report a newborn diagnosed with TBS with APVS and tetralogy of Fallot (TOF) who was found to carry the most common pathogenic SALL1 gene mutation c.826C > T (p.R276X), with its surgical repair and postoperative follow-up. To our knowledge, this is the first genotyped case of TBS from Turkey to date. TBS should be suspected in the presence of ear, anal, and thumb malformations in a neonate. If a patient with TBS and TOF-APVS needs preoperative ventilation within the first months of life, this implies prolonged postoperative intubation and increased risk of mortality.

New Biomarkers (Endocan, Interleukin-17, and Thrombospondin-4) for the Diagnosis, Assessment of Severity, and Follow-Up of Peripheral Arterial Disease.

The present study evaluated the use of endocan, interleukin-17 (IL-17), and thrombospondin-4 (TSP-4) blood levels as potential biomarkers for the diagnosis and follow-up of peripheral arterial disease (PAD). Patients with PAD (Rutherford categories I, II, and III) who were admitted between March 2020 and March 2022 for cardiovascular surgery or outpatient clinic follow-up were included. The patients (n = 60) were divided into 2 groups: medical treatment (n = 30) and surgical treatment (n = 30). In addition, a control group (n = 30) was created for comparison. Endocan, IL-17, and TSP-4 blood levels were measured at the time of diagnosis and at the first month after treatment. Endocan and IL-17 values were found to be significantly higher in both groups that underwent medical (259.7 ± 46 pg/mL, 63.7 ± 16.6 pg/mL) and surgical (290.3 ± 84.5 pg/mL, 66.4 ± 19.6 pg/mL) treatment than the control group (187.4 ± 34.5 pg/mL, 56.5 ± 7.2 pg/mL P < .001). Tsp-4 value was found to be significantly higher only in the surgical treatment group (15 ± 4.3 ng/mL) than the control group (12.9 ± 1.4 ng/mL P < .05). The decreases in endocan, IL-17, and TSP-4 levels at the first month of treatment in both groups were also significant (P < .001). A combination of classical and these new biomarkers could be included in PAD screening, early diagnosis, severity determination, and follow-up protocols in order to provide effective assessment in clinical practice.

Do Patients With Arterial Occlusive Disease of Different Etiologies Benefit Equally From Cilostazol?

BACKGROUND: Cilostazol is a guideline-recommended drug that improves intermittent claudication and quality of life in patients with chronic atherosclerotic peripheral arterial disease. The drug is used for most etiologies of arterial occlusive diseases in clinical practice. This study aimed to evaluate whether patients benefit equally from cilostazol regardless of etiology. METHODS: Patients on cilostazol were divided into 4 groups according to arterial occlusive disease etiology: (1) atherosclerosis, (2) diabetic angiopathy, (3) embolism/thrombosis, and (4) Buerger disease. Patients' maximum walking distance, ankle-brachial index score and distal tissue oxygen saturation (Sto2), clinical improvement onset time, ability to reach maximum benefit time, vascular surgeries, and wounds were compared before they started cilostazol and after 12 months. Results were evaluated at a statistical significance of P < .05. RESULTS: In 194 patients, 307 target extremities were evaluated in the 4 disease groups. After cilostazol use, maximum walking distance, ankle-brachial index score, and distal Sto2 increased significantly in all groups (P < .001), but distal Sto2 in the diabetic angiopathy and Buerger disease groups was significantly lower than in the atherosclerosis group (P < .001). Ankle-brachial index and distal Sto2 differences in the Buerger disease group were significantly lower (both P < .001). The vascular surgery counts decreased significantly in the atherosclerosis and embolism/thrombosis groups (P = .019 and P = .004, respectively). CONCLUSION: Patients with nonatherosclerotic arterial occlusive disease also benefit from cilostazol, but patients with Buerger disease or diabetic angiopathy seem to benefit less. Combining cilostazol with anticoagulant or antiaggregant agents and closer monitoring of these patients may produce better results.

Struggle in struggle: Surgical treatment of Leriche syndrome in a horseshoe kidney patient.

Coexistence of infrarenal aortic occlusion, known as Leriche syndrome, and horseshoe kidney is extremely rare. The isthmus of the latter, which usually contains functional renal parenchyma, complicates surgery. A 52-year-old male patient with Leriche syndrome and concomitant horseshoe kidney disease underwent a successful surgical repair. A median incision and transperitoneal approach were used to explore the infrarenal aorta, aortoiliac bifurcation, iliac arteries, and horseshoe kidney. The isthmus was connecting the lower poles over the aortoiliac bifurcation. Aortoplasty with aortobifemoral bypass was performed, preserving the horseshoe kidney and its accessory arteries. Operative and postoperative periods were uneventful. At eight months of follow-up, the patient was asymptomatic in daily activities.

Closure of a patent ductus arteriosus in pre-term neonates using a left anterior mini-thoracotomy.

OBJECTIVES: We present a surgical technique for closure of a patent ductus arteriosus (PDA) in pre-term neonates. Left anterior mini-thoracotomy is a surgical procedure that consists of an anterior mini-thoracotomy (~1.5 cm) below the clavicle, clipping the PDA, and closing the thorax without a tube thoracotomy. METHODS: Using this method between 2009 and 2012, we performed PDA closure in 32 pre-term neonates. Logistic regression analysis of potential risk factors for mortality was determined. RESULTS: The mean weight of the patients at the operation was 822.81 ± 24.59. The mean age at the operation was 28.97 ± 2.20 days. No surgery-related mortalities occurred. Four short-term mortalities occurred after the operation (12.5%) before the patients could be discharged. Three were due to sepsis, and one was due to necrotizing enterocolitis. According to the linear regression analysis, no other variables were found to be statistically significant for predicting mortality. A negative linear correlation was found between the weight of the patients at the operation and extubation time (p = 0.39; r = -0.39). CONCLUSION: The surgical outcome of anterior mini-thoracotomy for PDA closure in neonates is compatible with good results. This technique may be advantageous for extremely low birth weight infants and results in less traction on the lungs.

Results for surgical closure of isolated ventricular septal defects in patients under one year of age.

BACKGROUND: This study evaluated the outcomes of patients undergoing surgical repair of isolated ventricular septal defect (VSD) in the first year of life with particular attention to age and severity of pulmonary hypertension (PH). METHODS: Between July 1, 2002 and May 31, 2012, 282 patients aged less than one year underwent isolated VSD closure at a median age of five months (range, 21 days to 1 year) and a median weight of 5.3 kg (range, 2.9 to 12.5 kg). Patients were divided into three groups according to the age at surgery (0-3, 3-6, and 6-12 months), and groups were compared in regard to severity of PH associated with morbidity and mortality. RESULTS: Four (1.4%) early and four (1.4%) late deaths occurred postoperatively. All mortalities were patients with severe PH, aged between 3 and 12 months. Although hemodynamic studies revealed a higher incidence of persistent postoperative PH in patients above three months of age, there was no statistically significant difference in morbidity associated with prolonged mechanical ventilation, and long intensive care unit and hospital stays between age-related groups. CONCLUSION: In this study, the incidence of mortality was higher in patients over three months of age undergoing repair of isolated VSD; the data suggest that the mortality may be decreased in patients with severe PH who were operated on earlier in life. We conclude that in infants with severe PH, early surgical repair (less than three months) of isolated VSDs is strongly advised to achieve more favorable results.

Results for surgical correction of complete atrioventricular septal defect: associations with age, surgical era, and technique.

BACKGROUND: This study was conducted to evaluate the outcomes of patients undergoing complete atrioventricular septal defect (CAVSD) repair with particular attention to age at surgery, surgical era, and technique. METHODS: One hundred and forty-seven patients undergoing CAVSD repair between November 2002 and February 2012 were grouped according to surgical era and technique. Group I (age: 9.4 ± 5.0 months; weight: 6.8 ± 1.7 kg) consisted of 45 patients, operated before August 2006, and was divided into subgroup Ia (31 patients; two-patch repair) and subgroup Ib (14 patients; modified single-patch repair). One hundred and two patients operated after August 2006 were included in Group II (age: 5.2 ± 3.1 months; weight: 4.9 ± 2.6 kg), and was divided into subgroup IIa (59 patients; two-patch repair) and subgroup IIb (43 patients; modified single-patch repair). Groups were compared with regard to perioperative variables and postoperative data. RESULTS: There were 19 early and five late deaths. Overall mortality was significantly higher in Group I, compared to Group II (p < 0.01). Comparison of Groups Ia to Ib and IIa to IIb revealed no statistically significant difference in mortality or morbidity. Age >8 months and preoperative common atrioventricular valve (CAVV) regurgitation ≥ moderate were significant risk factors for mortality and morbidity. After 40.8 ± 24.4 months, 99 (80.4%) of 123 (83.7%) survivors were asymptomatic without any medication, and 24 (19.5%) have mild symptoms. CONCLUSION: Our current results indicate that younger patient age and better preoperative CAVV functions were the main factors for a favorable outcome after surgical correction of CAVSD; and outcomes did not differ by the surgical technique.

Early and intermediate term results for surgical correction of total anomalous pulmonary venous connection.

BACKGROUND: This retrospective study evaluated factors associated with mortality and morbidity in patients having functionally biventricular heart (FBH) and functionally univentricular heart (FUH) undergoing total anomalous pulmonary venous connection (TAPVC) repair. METHODS: We reviewed medical records retrospectively and identified 72 patients undergoing TAPVC repair between July 2002 and December 2010; and 62 patients had FBH and 10 patients had FUH. The median age and weight at repair was 9.1 months (range, 8 days-16 years) and 6.7 kg (range, 2.5-57 kg). The TAPVC anatomy was supracardiac in 41 (56.9%), cardiac in 18 (25%), infracardiac in eight (11.1%), and mixed in five patients (6.9%). RESULTS: There were seven early deaths (2 FBH [25%] and 5 FUH [62.5%]) and one late death (FUH). Presence of FUH (p < 0.01), heterotaxy syndrome (p = 0.03), young age (p < 0.01), low weight (p < 0.01) and long CPB time (p = 0.04) at the time of surgery were statistically significant risk factors for mortality. Morbidity was related to long duration of postoperative mechanical ventilation, intensive care unit and hospital stay. Presence of FUH was the only significant risk factor for morbidity (p < 0.01). After a mean follow-up of 52.1 months (range, 3-74 months), 59 (92%) of 64 survivors were asymptomatic without any medication, and five have mild symptoms with regular physical activity. CONCLUSION: Operative results of TAPVC have dramatically improved in recent years. However, patients having FUH (especially with concomitant palliative surgery), heterotaxy syndrome, low weight, early age, and long CPB time still have an increased operative mortality.

Randomized comparison between mild and moderate hypothermic cardiopulmonary bypass for neonatal arterial switch operation.

OBJECTIVES: To compare neonates receiving arterial switch operation (ASO) either with mild or moderate hypothermic cardiopulmonary bypass. METHODS: Forty neonates undergoing ASO were randomized to receive either mild (Mi > 32 °C, n = 20) or moderate (Mo > 26 °C, n = 20) hypothermic cardiopulmonary bypass (CPB) between April 2007 and June 2010. All patients were diagnosed with simple transposition of the great arteries. Mean age (Mi: 8.32 ± 4.5 days, Mo: 7.54 ± 5.0 days, P = 0.21) and body weight were similar in both groups (Mi: 3.64 ± 0.91 kg, Mo: 3.73 ± 0.84 kg, P = 0.14). Follow-up was 3.1 ± 2.5 years for all patients. RESULTS: Lowest perioperative rectal temperature was 33.5 ± 1.4 °C (Mi) versus 28.2 ± 2.1 °C (Mo) (P < 0.001). All patients safely weaned from CPB required lower doses of dopamine (Mi: 5.1 ± 2.4 µg/kg min, Mo: 6.5 ± 2.1 µ/kg min, P = 0.04), dobutamine (Mi: 7.2 ± 2.5 µg/kg min, Mo: 8.6 ± 2.4 µ/kg min, P = 0.04) and adrenalin (Mi: 0.02 ± 0.02 µg/kg min, Mo: 0.05 ± 0.03 µ/kg min, P = 0.03) in mild hypothermia group. Intraoperative blood transfusion (Mi: 190 ± 58 ml, Mo: 230 ± 24 ml, P = 0.03) and postoperative lactate levels (Mi: 2.7 ± 0.9 mmol/l, Mo: 3.1 ± 2.2 mmol/l, P = 0.02) were lower under mild hypothermia. Secondary chest closure was performed in 30% (Mi) versus 35% (Mo) (P = 0.65). Duration of inotropic support (Mi: 7 (4-11) days, Mo: 11 (7-15) days, P = 0.03), time to extubation (Mi: 108 (88-128) h, Mo: 128 (102-210) h, P = 0.04), lengths of intensive care unit (ICU) stay (Mi: 9 (5-14) days, Mo: 12 (10-18) days, P = 0.04) and hospital stay (Mi: 19 (10-29) days, Mo: 23 (15-37) days, P = 0.04) were significantly shorter under mild hypothermia. Two-year freedom from reoperation was 100% for both the groups. CONCLUSIONS: The ASO under mild hypothermia seemed to be beneficial for pulmonary recovery, need for inotropic support and length of ICU and hospital stay. No worse early- or intermediate-term effects of mild hypothermia were found.

Surgical treatment of infective valve endocarditis in children with congenital heart disease.

OBJECTIVE: This study assesses surgical procedures, operative outcome, and early and intermediate-term results of infective valve endocarditis in children with congenital heart disease. METHODS: Seven consecutive children (five females, two males; mean age, 10.8 years) who underwent surgery for infective valve endocarditis between 2006 and 2010 were included in the study. The aortic and mitral valves were affected in two and tricuspid in five patients. Indications for operation included cardiac failure due to atrioventricular septal rupture, severe tricuspid valve insufficiency, and septic embolization in one, moderate valvular dysfunction with vegetations in three (two tricuspid, one mitral), and severe valvular dysfunction with vegetations in the other three patients (two tricuspid, one mitral). The pathological microorganism was identified in five patients. Tricuspid valve repair was performed with ventricular septal defect (VSD) closure in five patients. Two patients required mitral valve repair including one with additional aortic valve replacement. RESULTS: There were no operative deaths. Actuarial freedom from recurrent infection at one and three years was 100%. Early echocardiographic follow-up showed four patients to have mild atrioventricular valve regurgitation (three tricuspid and one mitral) and three had no valvular regurgitation. No leakage from the VSD closure or any valvular stenosis was detected postoperatively. CONCLUSIONS: Mitral and tricuspid valve repairs can be performed with low morbidity/mortality rates and satisfactory intermediate-term results in children with infective valve endocarditis.

Comparison of parameters for detection of splanchnic hypoxia in children undergoing cardiopulmonary bypass with pulsatile versus nonpulsatile normothermia or hypothermia during congenital heart surgeries.

The aim of this study is to evaluate gastric mucosal oxygenation together with whole-body oxygen changes in infants undergoing congenital heart surgery with cardiopulmonary bypass (CPB) procedure and the use of either pulsatile or nonpulsatile mode of perfusion with normothermia and pulsatile or nonpulsatile moderate hypothermia. Sixty infants undergoing congenital cardiac surgery were randomized into four groups as: nonpulsatile normothermia CPB (NNCPB, n = 15), pulsatile normothermia CPB (PNCPB, n = 15), nonpulsatile moderate hypothermia CPB (NHCPB, n = 15), and pulsatile moderate hypothermia CPB (PHCPB, n = 15) groups. In NNCPB and PNCPB groups, mild hypothermia was used (35°C), whereas in NHCPB and PHCPB groups, moderate hypothermia (28°C) was used. Gastric intramucosal pH (pHi), whole-body oxygen delivery (DO(2)) and consumption (VO(2)), and whole-body oxygen extraction fraction were measured at sequential time points intraoperatively and up to 2 h postoperatively. The measurement of continuous tonometry data was collected at desired intervals. The values of DO(2), VO(2), and whole-body oxygen extraction fraction were not different between groups before CPB and during CPB, whereas the PNCPB group showed higher values of DO(2), VO(2), and whole-body oxygen extraction fraction compared to the other groups at the measurement levels of 20 and 60 min after aortic cross clamp, end of CPB, and 2 h after CPB (P < 0.0001). Between groups, no difference was observed for pHi, lactate, and cardiac index values (P > 0.05). This study shows that the use of normothermic pulsatile perfusion (35°C) provides better gastric mucosal oxygenation as compared to other perfusion strategies in neonates and infants undergoing congenital heart surgery with CPB procedures.

Ascending aorta-to-descending aorta bypass via right thoracotomy for the re-coarctation of the aorta: an alternative surgical approach for re-coarctation.

Surgical treatment of aortic coarctation is performed with low postoperative complication rates. However, some patients may require additional surgical interventions due to stenosis or re-coarctation of the aorta, and ascending-to-descending aortic bypass via right thoracotomy is a valid alternative approach in the adult population group. Risk of massive intraoperative bleeding due to adhesions at the previous left thoracotomy site and the risk of spinal cord ischemia due to aortic cross-clamping or injury to the recurrent laryngeal nerve may be avoided with right thoracotomy in such cases. In this report, we present an adult patient with re-coarctation of the aorta who was successfully treated by extra-anatomic ascending-to-descending aortic bypass via right thoracotomy without cardiopulmonary bypass.

Over 14 years of experience with cardiac myxomas.

Atrial myxomas are the most commonly encountered tumours of the heart and can present at different ages with different clinical symptoms. They are one of the curable tumours of the heart. Appropriate surgical treatment and surgery must be performed with great precautions in order to prevent fatal systemic embolizations. In this retrospective study we will present our experience of 14 years, between 1990 and 2004, in 27 patients who had been operated for cardiac myxomas. Diagnosis of the myxomas were made by echocardiography in all cases. Surgical approach to the tumour was biatrial in nine, left atrial in II, and transseptal in seven patients. Associated procedures included coronary artery bypass grafting in one, mitral valve repair with tricuspid annuloplasty in two patients, mitral valve replacement in one and bilateral femoral embolectomy in one patient. One hospital mortality occurred as a result of multiorgan failure in a patient with peripheral embolization. None of the patients required recurrent operation, however, mitral valve insufficiency was surgically corrected in one patient.

Idiopathic aneurysm of the inferior caval vein.

Idiopathic aneurysms of the inferior caval vein are uncommon in children and adults. We describe a 14 year old boy with a saccular aneurysm of the inferior caval vein, in whom no surgical intervention was required to repair the aneurysm. The patient is being followed-up periodically for the evaluation of any increase in the diameter of the inferior caval vein.

Peri-operative comparison of different transient external shunt techniques in bidirectional cavo-pulmonary shunt.

OBJECTIVE: In patients with functional single ventricular physiology, the avoidance of cardiopulmonary bypass offers many advantages including earlier extubation, decreased necessity of inotropic support, improved hemodynamical status and reduced likelihood of post-operative prolonged pleural effusion. We believe that the bidirectional cavopulmonary anastomosis operations may be performed with transient external shunt techniques. The purpose of this prospective study is the peri- and post-operative comparison of different transient external shunt methods used in bidirectional cavopulmonary shunt operations. METHODS: Between years 1997 and 2000, 30 patients have undergone bidirectional cavo-pulmonary shunt operation by using three different types of external shunt. The mean patient age was 13 months (range, 3 months-3 years). Previous operations had been performed in ten patients (33%). All patients were divided into three groups according to type of external shunt used. In group A (ten patients), the transient external shunt was constructed between superior vena cava and right atrium by uniting two standard venous cannulas with a Y-connector. In group B (ten patients), the external shunt was performed with a single short venous cannula constructed between superior vena cava and right atrium. In group C (ten patients), the external shunt was constructed between superior vena cava and left pulmonary artery by using a single short venous cannula. During operation, central venous pressure (CVP), arterial O(2) saturation and mean arterial blood pressure were recorded continuously. RESULTS: All operations are completed without the establishment of cardiopulmonary bypass. Hospital mortality was 3.3%. One patient in group A died because of low cardiac output at the end of postoperative day 2. All patients were extubated within 4h. In groups A-C mean superior vena caval pressures were measured 28, 24 and 21 mmHg, respectively during superior vena cava-right pulmonary artery anastomosis. In both groups A and B patients, arterial O(2) saturation decreased to a minimum 53+/-2 and 53+/-2%, respectively during the operation. In the group C, minimum arterial O(2) saturation was measured 82+/-2%. Although mean arterial pressure decreased in all groups during clampage; in group C patients, this drop is not significant. CONCLUSION: Based on the study presented here, bidirectional cavo-pulmonary anastomosis can be carried out by using different types of transient external shunt. The best hemodynamical condition and arterial O(2) levels were achieved with the shunt constructed between superior vena cava and left pulmonary artery.