Camptodactyly-arthropathy-coxa vara-pericarditis syndrome and an unusual association with mitral stenosis.

BACKGROUND: Campotodactyly-artrhropathy-coxa vara-pericarditis (CACP) syndrome is a very rare autosomal recessive genetic disorder. It is characterized by flexion contracture of the fifth finger (camptodactyly); noninflammatory arthropathy; decreased angle between the shaft and the head of the femur (coxa vara) and pericarditis. Its association with mitral stenosis has not yet been reported. Hereby we report this unique association with CACP syndrome. CASE: An eleven-year-old girl presented with non-productive cough, dyspnea, and orthopnea. She was diagnosed CACP syndrome at the age of seven and a biallelic frameshift mutation in the PRG4 gene was determined. The physical examination revealed pectus excavatum, camptodactyly, genu valgum, tachypnea and orthopnea. The functional capacity was NYHA III-IV. She had 2/6 soft pansystolic murmur at 4th left intercostal space and a rumbling diastolic murmur at apex. Echocardiography revealed an enlarged left atrium, severe stenotic mitral valve with a mean diastolic transmitral gradient of 22.5 mmHg, mild mitral regurgitation and mild apical pericardial effusion. The patient had mitral comissurotomy and partial pericardiectomy operation. Her post-operative transmitral gradient decreased to 6.9 mmHg and the pulmonary pressure was 30 mmHg. Her functional capacity increased to NYHA I-II. CONCLUSIONS: The main defect is the proteoglycan 4 protein which acts like a lubricant in articular and visceral surfaces. Therefore, the leading clinical feature is arthropathy. Cardiac involvement other than clinically mild pericarditis is not usually expected. Three types of proteoglycans (decorin, biglycan, and versican) are present in the mitral valve. This could be the reason of mitral valve involvement in rare cases as like ours. It is important that these patients undergo echocardiographic examination regularly.

Long-term outcomes in patients who underwent surgical correction for atrioventricular septal defect.

OBJECTIVE: The follow-up results of patients operated for atrioventricular septal defect (AVSD) during 1996-2016 at Baskent University are presented. METHODS: Data obtained from hospital records consists of preoperative echocardiographic and angiographic details, age and weight at surgery, operative details, Down syndrome presence, postoperative care details, early postoperative and latest echocardiographic findings and hospitalization for reintervention. RESULTS: A total of 496 patient-files were reviewed including 314 patients (63.4%) with complete and 181 (36.6%) with partial AVSD (48.4% of all patients had Down syndrome). Atrioventricular (AV) valve morphology was Rastelli type A in 92.2%, B in 6.5%, and C in 1.3% of patients. The operative technique used was single-patch in 21.6% (108), double-patch in 25.8% (128), and modified single-patch (Wilcox) in 52.5% (260) of patients. The follow-up time was 37.79±46.70 (range, 0-198) months. A total of 64 patients (12.9%) had arrhythmias while in the intensive care unit; pacemaker was implanted in 12 patients. A total of 78 patients (15.7%) were treated for pulmonary hypertensive crisis. The early morbidity and mortality in the postoperative first month were calculated as 38% and 10%, and the late morbidity and mortality (>1 month) were calculated as 13.1% and 1.9%, respectively. The rate of reoperation in our cohort was 8.9%. CONCLUSION: Although the early morbidity and mortality are low in AVSD operations, the rate of reoperations for left AV valve insufficiency are still high. Although Down syndrome is not a risk factor for early mortality, the co-morbid factors, such as longer postoperative mechanical ventilator or inotropic support, lead to higher risk for morbidity. The frequency of pulmonary hypertension and consequent complications are also high.

Complications of cardiac catheterization in children with congenital heart disease.

Tokel K, Gümüs A, Ayabakan C, Varan B, Erdogan I. Complications of cardiac catheterization in children with congenital heart disease. Turk J Pediatr 2018; 60: 675-683. Catheterization procedures for congenital heart disease include a broad range of procedures with a large spectrum of potential adverse outcomes. We aimed to determine the incidence of various complications during pediatric cardiac catheterizations and to designate the relative risk factors for such complications. All pediatric patients undergoing cardiac catheterizations between January 2005-December 2010 were included. Data are collected prospectively by filling out computerized catheterization reports. Patient records were scanned for potential risk factors retrospectively. Groups were divided based on cardiac diagnosis; type of procedure. Adverse events were categorized into major or minor events. A total of 2662 cardiac catheterizations were performed during this period. The mean age of patients was 53.2±64.3 months. Diagnostic catheterizations were done for 1797 (67.5%) patients, and interventional procedures were done in 865 (32.5%) cases. Adverse events were observed in 688 patients (26%) during 941 procedures. Minor and major events were seen in 21.4% and 7.1% of the procedures respectively. Most frequent major complications were anesthesia related (6%), most frequent minor complications were vascular complications (45.2%). Complications were more frequent in younger patients (p=0.0001), during interventional procedures (p=0.0001). Thirteen patients died after a cardiac catheterization; they were younger and had longer procedures compared to those who survived (p=0.0001). Vascular complications were frequent among younger patients, with prolonged procedure time and vessel access (p < 0.0001). Cyanotic patients had more complications (p < 0.05; OR for major and minor complications: 3.5 and 2 respectively). Minor complications were 2.7 times more likely in ventricular outflow obstructions (p < 0.05). The complication rates of cardiac catheterization in children are low, but not negligible. Defining risk factors will help anticipate adverse events, which will guide in preparation for rescue procedures and improvement of patient safety systems in catheterization laboratories.

Radiofrequency catheter ablation of left-sided accessory pathways via retrograde aortic approach in children.

BACKGROUND: We aimed to analyze the results of retrograde aortic radiofrequency catheter ablation of left-sided accessory pathways in children. METHODS: Between January 2010 and September 2014, 25 children who underwent left-sided accessory pathway ablation with a retrograde aortic approach were evaluated retrospectively. RESULTS: The mean age of the patients was 11.09±3.71 years. Seventeen patients were male (68%). The mean procedure and fluoroscopy times were 71.54±21.05 min and 31.42±19.57 min, respectively. Radiofrequency energy was delivered with 41.38±15.32 W at 52.38±5.45 °C. Sixteen patients (64%) presented with manifest preexcitation and, 9 had concealed accessory pathways. The location of accessory pathway was left lateral in 16 patients, posteroseptal in 5, left anterolateral in 2, and left posterolateral and left posterior in the remaining 2. The acute success rate was 96%. The patients were followed for a mean of 16.68±18.01 months. There were 2 recurrences. No major complications were observed in the periprocedural period. One patient had groin hematoma, another one had transient severe headache and vomiting. Trivial mitral regurgitation was noted in a patient, which remained the same throughout follow-up. None of the patients developed new aortic regurgitation, pericardial effusion, or thrombi at the site of ablation. CONCLUSIONS: The retrograde aortic approach can be safely employed with a high success rate for ablation of left-sided accessory pathways in children.

Does the z-score value of the abdominal aorta predict recoarctation in an infant?

OBJECTIVE: We evaluated left ventricular dimensions and aortic arch z-scores in infants who underwent balloon angioplasty (BAP) or surgery for coarctation of aorta (CoA). We searched for risk factors predicting recoarctation. PATIENTS: Between 2007-2011, 27 male and 17 female infants (mean age 2.93 ± 4.78 months, range 2 days-24 months) with CoA were evaluated. Left ventricular dimensions, systolic functions, mitral and aortic annuli, transverse aortic arch, isthmus, coarctation site, and diaphragmatic aorta measurements were done and z-scores were determined before intervention. RESULTS: Six patients underwent primary operation, 38 patients had BAP (86.4%). Associated cardiac pathologies in operated patients were double outlet right ventricle (n = 2), atrioventricular septal defect (n = 1), Ebstein's anomaly (n = 1), arch hypoplasia (n = 2). Twelve patients (27.2%) had simple coarctation. Ventricular septal defect was the most frequent associated cardiac pathology (n = 20, 45.4%). The patients were followed for 10.22 ± 8.21 months. Among 33 primary successful BAP's, 14 had recoarctation (42%). Eleven patients were primarily operated (including 5 with unsuccessful BAP), two had recoarctation (18%). Abdominal and transverse aorta values and z-scores were significantly lower in the recoarctation group (7.15 ± 2.12 mm and 6.07 ± 1.86 mm respectively in the "no-recoarctation group"; vs. 5.53 ± 0.75 mm and 4.94 ± 1.53 mm in the "recoarctation group" P <.05). Abdominal aorta z-score of 0.42 was 88.9% sensitive and 53.8% specific to predict recoarctation (area under ROC curve: 0.618-0.902, P <.05). CONCLUSION: Although BAP for native coarctation is still a controversial treatment option due to frequent restenosis rates, abdominal aorta z-score of 0.42 could correctly eliminate recoarctation in 89% of these cases. This cutoff value might help us choose patients for primary BAP and decrease the recoarctation rate after BAP.

Crisscross heart with tricuspid atresia diagnosed in utero.

Crisscross heart is a rare congenital cardiac anomaly in which systemic and pulmonary venous streams cross without mixing at atrioventricular level. We report a case of crisscross heart with tricuspid atresia, double outlet right ventricle, and pulmonary stenosis, which was diagnosed prenatally.

Absence of the right pulmonary artery associated with a partial anomalous pulmonary venous connection.

Unilateral absence of a pulmonary artery is a rare anomaly. Patients may present with hemoptysis, recurrent respiratory infections, pulmonary hypertension, or congestive heart failure. This report describes the case of a missing right pulmonary artery associated with anomalous left pulmonary venous connection not previously described in the medical literature.

Treatment of subaortic stenosis in hearts with single-ventricle physiology.

BACKGROUND: We evaluated the patients who had had a Damus-Kaye-Stansel (DKS) operation for single-ventricular physiology with the aorta originating from a hypoplastic ventricle and the pulmonary artery from the systemic ventricle. METHODS: Seven patients who were operated on between May 2007 and November 2010 were evaluated retrospectively. The patients had been diagnosed with a transposed double-inlet left ventricle and triscuspid atresia, and had been waiting for a Fontan operation. Systemic outflow stenosis was defined echocardiographically as those with a gradient greater than 20 mmHg, and angiographically those with greater than 5 mmHg in the subaortic region. RESULTS: The mean age and weight of the patients was 15 ± 9.7 months and 8 ± 3.3 kg, respectively. The mean gradient between the systemic ventricle and the aorta was 35 ± 25 mmHg. This gradient decreased to 14.3 ± 4 mmHg postoperatively. The early hospital mortality was 14% (one patient). The mean extubation time and mean time in the intensive care unit (ICU) were 13 ± 7.3 hours and 2.2 ± 0.5 days, respectively. The mean follow-up time was 11 ± 2 months. No mortality and semi-lunar valve insufficiency were observed after discharge. CONCLUSIONS: One of the major problems that occur while waiting for a Fontan operation is systemic ventricular hypertrophy and deterioration in the compliance of the ventricle due to systemic ventricular outflow stenosis. When the disadvantages of outflow resection are encountered, a DKS proves to be a good alternative.

Ictal electrocardiographic changes in children presenting with seizures.

BACKGROUND: The aim of this study was to determine electrocardiographic changes in children during seizures. METHODS: We assessed heart rate changes, RR intervals and QT changes during 47 seizures in children. Consecutive QT and RR intervals were measured for 60 s before the seizures, during the seizures and 60 s after the seizures during video electroencephalography monitoring. RESULTS: There were 47 seizures in 18 patients. Five patients had generalized seizures and 13 patients had focal seizures. Twelve patients were male. The mean age during monitoring was 10.1 years (range 4 months-19 years). Ictal tachycardia was seen in every seizure. No ictal bradycardia was noted. There was only one dropped beat in a patient. The mean ictal heart-rate-corrected QT (QTc) interval was significantly higher than the postictal measurements (P= 0.005). Mean ictal QTc variation tended to increase during seizures and then decreased below the pre-ictal measurements in the postictal period. However these changes were statistically insignificant (P > 0.05). RR variance was significantly decreased during seizures compared to the postictal period and the standard deviation of the RR intervals was significantly decreased in the ictal period compared to the pre-ictal period (P= 0.014 and P= 0.001, respectively). CONCLUSION: Tachycardia is the main finding in seizures in children. Ictal bradycardia and cardiac arrhythmias are very rare despite being more frequent in adults with seizures.

[Follow-up of our patients with transposition of the great arteries and arterial switch operation; comparison of simple and complex transposition cases]. / Arteriyel "switch" ameliyati yapilan büyük arter transpozisyonlu hastalarimizin izlemi; basit ve kompleks transpozisyon olgularinin karsilastirilmasi

OBJECTIVE: 1. Follow-up data of patients with simple transposition of great arteries (TGA) and TGA with ventricular septal defect (VSD), who had arterial switch operation (ASO) are compared. 2. Factors affecting mortality and morbidity after ASO are described. METHODS: Seventy-six patients, who had an ASO between April 2007 and August 2010 were studied retrospectively. The patients with intact ventricular septum (IVS) (n=36) were in Group 1, and those with VSD (n=40) in Group 2. The pre and postoperative clinical and echocardiographic variables and intensive care unit (ICU) outcomes were compared among groups using Mann-Whitney U, Pearson correlation and logistic regression tests. RESULTS: The mean age at operation was 44.1 days, weight was 3.6±0.98 kg. Patients were followed for 15.5±11.21 months. The aortic cross-clamp (AoCC) and cardiopulmonary bypass (CPB) times were higher in patients with VSD (p=0.001, p=0.004). Patients in Group 1 had longer inotropic agent infusion (p=0.001). Length of stay in ICU was similar in two groups (p>0.05). There was no correlation between the length of stay in ICU and age, weight, CPB time, AoCC time. Aortic regurgitation was more frequent in Group 2 (p=0.02). During follow-up, 12 patients died (15.7%), and 8 patients had a revision operation (10.5%) (diaphragmatic plication in 4, pulmonary artery reconstruction in 1, recoarctation operation in 3 patients). Mortality was similar in groups (p>0.05). CONCLUSION: Arterial switch operation provides anatomical correction in TGA. Appropriate timing and good perioperative planning facilitates low morbidity and mortality in patients with VSD as in patients with simple TGA.

Extension of coronary artery with double flap technique in a complicated arterial switch operation.

The increased distance between the coronary ostium and the reimplantation site poses technical challenges in older patients with transposition of the great arteries (TGA) and complex coronary artery anomalies. In this report, we describe a technique for coronary artery reimplantation using a pedicle flap on the pulmonary artery (PA) to create a tunnel resulting in an extension of the coronary button.

Arterial switch and modified Konno procedure with detachment of the aortic root for transposition of the great arteries and left ventricular outflow tract obstruction.

The arterial switch operation for the transposition of the great arteries accompanied by a ventricular septal defect and posterior malalignment of the outlet septum is a surgical challenge. We describe a new surgical technique in 2 patients having this pathology. The surgical technique consists of the arterial switch operation and a modified Konno procedure through partial detachment of the semilunar valve of the right ventricle as in the Ross procedure.

A rare anatomic variation: a combination of anomalous origin of the right subclavian artery from the main pulmonary artery, ventricular septal defect, and aortic coarctation.

BACKGROUND: We present a rare case of an anomalous origin of the right subclavian artery (SA) from the pulmonary artery (PA) associated with ventricular septal defect (VSD) and aortic coarctation. CASE REPORT: Critical aortic coarctation and VSD were diagnosed in a neonate, and coarctation angioplasty was successfully performed. Severe cardiac failure developed after this procedure, however, and closure of the VSD was planned. RESULTS: The anomalous SA was diagnosed during the operation when the cardiopulmonary bypass was initiated. As the pulmonary blood flow decreased, a difference in pulse pressures between the right radial artery and the ascending aorta was noticed to be due to the subclavian steal phenomenon. The difference decreased from 60 mm Hg to 25 mm Hg following ligation of the SA at its origin from the PA. The patient was discharged on the eighth postoperative day without any problems. CONCLUSION: An abnormal origin of the right SA from the main PA associated with VSD and aortic coarctation is a unique combination that, if unnoticed preoperatively, may create difficulties during the operation.

Somatic growth after corrective surgery for congenital heart disease.

We report the somatic growth characteristics of 60 infants who underwent corrective surgery for congenital heart disease. Patients were assigned to the following groups: Group 1, cyanosis with pulmonary hypertension (PH); Group 2, cyanosis without PH; Group 3, large left-to-right shunt and PH; and Group 4, left-to-right shunt or obstructive heart lesion and no PH. Weight, length, and head circumference measurements and z scores were obtained before the operation, at 45 days, and 3, 6, and 12 months after the operation. Details about dietary intake, socioeconomic status at presentation, length of stay in the intensive care unit, hospitalization period, and perioperative events were noted. The endpoint was reaching a z score > -1 for all anthropometric measurements. At presentation, 51 patients (85%) had malnutrition. The family income, dietary intake, and presence of preoperative chronic malnutrition were interrelated and influenced the weight of the patient at all times during the postoperative follow-up (p < 0.05 for all values). The severity of the heart defect had no significant influence on the postoperative anthropometric measurements (p > 0.05). The lowest preoperative z scores for weight and height were observed in Group 3. Seven patients could not achieve the endpoint at the end of 12 months (4 in Group 3 and 3 in Group 2). Catch-up growth is attained mostly in the first year after corrective surgery. Delays in reaching z scores > -1 are observed in the chronically malnourished children. If adequate calories are provided and early corrective surgery is performed, the normal growth potential may be fulfilled.

Intraatrial baffle repair of anomalous systemic venous return without hepatic venous drainage in heterotaxy syndrome.

A 7-month-old boy with heterotaxy syndrome had partial atrioventricular septal defect and interrupted inferior vena cava with hemiazygos continuation to a left superior vena cava. The left side of the common atrium receiving all the venous drainage was in connection with the left ventricle and the aorta. The small atrium and the proximity of the pulmonary and hepatic vein orifices precluded complete baffling. This report describes an intraatrial baffle repair of anomalous systemic venous return without hepatic venous drainage. This resulted in good oxygenation postoperatively, with oxygen saturation ranging from 93% to 98%.

Duplicate mitral valve in an infant with Shone's anomaly.

Duplication of mitral valve is a very rare anomaly. It is characterized by two independent mitral valve apparatuses (leaflets and annulus) and subvalvular apparatuses (chordae and papillary muscles) that function well by themselves. In this report, we present duplicate mitral valve with parachute chordal attachment and mitral stenosis in an infant. The patient was successfully treated with the reconstruction of the larger valve without any intervention to the smaller one.