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.

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.

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.

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.

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%.

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.

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.

Cardiac echinococcosis with intra-atrial localization.

Echinococcosis is a frequently encountered parasitic disease in the Mediterranean region, including Turkey. Cardiac disease is seen in 0.5-2% of patients. Usually the cysts are located within the pericardium or intramyocardially; intracavitary localization of the cyst is rarely seen. We herein report a patient who initially presented with hemoptysis and was echocardiographically diagnosed to have an intra-atrial hydatid cyst. Although patients with cardiac hydatid cysts may present with cardiac symptoms, symptoms typically involve other organ systems, following dissemination of the organism. Therefore, echocardiographic screening of patients who are diagnosed with echinococcosis, even if they have no cardiac symptoms, may ensure early diagnosis and prevent development of lethal complications, such as cyst rupture or embolization.

Endocardial pacemaker implantation in neonates and infants.

Transvenous pacemaker lead implantation is the preferred method of pacing in adult patients. Lead performance and longevity are superior and the implantation approach can be performed under local anaesthetic with a very low morbidity. In children, and especially in neonates and infants, the epicardial route was traditionally chosen until the advent of smaller generators and lead implantation techniques that allowed growth of the child without lead displacement. Endocardial implantation is not universally accepted, however, as there is an incidence of venous occlusion of the smaller veins of neonates and infants with concerns for loss of venous access in the future. Growing experience with lower profile leads, however, reveals that endocardial pacing too can be performed with low morbidity and good long-term results in neonates and infants.

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.

A case of double-outlet left ventricle with atrioventricular discordance.

The clinical, echocardiographic and angiographic aspects of a four-month-old boy with double-outlet left ventricle, atrioventricular discordance, L-malposition of the great arteries, ventricular septal defect and pulmonary stenosis are described. Additionally, in this patient, the right arcus aorta and the ligament of ductus arteriosus caused anterior compression of the trachea. The anterior position of the morphological left ventricle is the most interesting feature.

Prenatal echocardiographic diagnosis of congenital heart disease: comparison of past and current results.

The increased experience in interpretation of fetal echocardiographic images may change the accuracy of fetal echocardiography in diagnosing fetal heart defects. We thus decided to evaluate the specificity and the sensitivity of our fetal echocardiographic examinations in diagnosing congenital heart disease, focusing especially on the outcome of complex cardiac pathologies. Between October 1999 and July 2003, 642 fetuses were followed until birth and underwent a postnatal reassessment of the cardiovascular system in our institution. These cases constitute our cohort. The postnatal reassessment was mainly done by echocardiography; some cases also had angiography. In case of intrauterine or postnatal death, an autopsy was performed. The prenatal and postnatal diagnoses were compared, and specificity and sensitivity of fetal echocardiography for congenital heart pathologies were determined. Among 45 affected pregnancies, 31 cases had complex and 14 had significant cardiac defects. The sensitivity of fetal echocardiography for cardiac anomalies was 93.3%; the specificity was 100%. Compared to our previous study, the sensitivity was remarkably improved (in our previous study sensitivity was 78% and specificity 100%). Echocardiography is a very useful and reliable tool in the evaluation of the fetal cardiovascular system, and has high sensitivity and specificity for congenital heart diseases.

Active-fixation, steroid-eluting ventricular leads: the medium-term results in children.

OBJECTIVE: Low threshold characteristics and mechanical stability are important features of an ideal pacing lead, especially for children. We report our experience and medium-term results with a steroid-eluting, active-fixation ventricular lead in children. METHODS: Telectronics Accufix II DEC model 033-212 ventricular leads were implanted in 21 patients. Eighteen patients (11 male / 7 female; 10.6+/-4.0 years), who were followed for a mean period of 6.47 +/-1.13 years, were included in the study. RESULTS: Pacemaker mode was DDDR in three patients, and VVIR in the remaining 15 patients. Mean threshold value was 0.5 volts at implant, which increased to 0.7 volts in the first month (p>0.05). It remained stable (0.62-0.78 V) until 5.5 years (p>0.05), increased significantly at 5.5 years (0.99+/-0.63 V at 5.5 years, p<0.05) and remained significantly high after this time (p<0.05). Pacing lead impedance did not differ significantly throughout the study (p>0.05). Thirteen pulse generators reached end-of-life at > or =4 years. In all the patients whose generators were replaced (11 patients), the leads were kept in place. CONCLUSION: Steroid-eluting active-fixation ventricular leads have long service lives and low chronic stimulation threshold values, allowing lower outputs. These features may have advantages in pacing therapy of children.

Transcatheter closure of interatrial communications with Amplatzer device: results, unfulfilled attempts and special considerations in children and adolescents.

OBJECTIVE: We report our clinical experience with the Amplatzer device in transcatheter closure of 80 atrial septal defects (ASD) in children. METHODS: Among 99 patients (mean age: 7.2+/-3.8 years) with ASD selected by transthoracic echocardiography, procedures were performed in 80 patients under general anesthesia with fluoroscopic and transesophageal echocardiographic (TEE) guidance. Optimal device size was selected after stretched balloon sizing of the ASD's. The patients were discharged at 24 hours after an evaluation with X-ray, electrocardiography and echocardiography. RESULTS: The mean follow-up period (FUP) was 38+/-14 months. Mean ASD size was 11.5+/-3.7 mm at TEE (stretched size: 17.6+/-3.9 mm). The mean size of the device was 18.6+/-4.0 mm. Procedure and fluoroscopy time were 52.1+/-17.8 minutes and 11.0+/-4.9 minutes, respectively. Immediately after the procedure 35 patients (43.8%) had residual shunts. Trivial shunt remained in only 2 of them (2.5%) after FUP. None of the patients had major complications. Minor and transient rhythm abnormalities were observed in 5 patients and trivial mitral regurgitation was seen in 6 patients. CONCLUSION: Amplatzer is an effective and safe device for transcatheter closure of ASD especially in pediatric patients.

Noncompaction of ventricular myocardium: a study of twelve patients.

We report 12 patients with ventricular noncompaction who were echocardiographically identified at our institution since 1991. The mean age at presentation was 3.5 years. Five patients had isolated noncompaction. Three of them had subnormal left ventricular systolic function at presentation. Noncompaction was associated with complex congenital heart defect in 3 patients. Four patients had simple congenital heart defects: pulmonary stenosis, coarctation of aorta with aberrant origin of right subclavian artery, ventricular septal defect, and partial anomalous pulmonary venous return. The observed rhythm abnormalities were Wolff-Parkinson-White syndrome and paroxysmal supraventricular tachycardia, bigemini ventricular extrasystoles, and left bundle branch block. A transvenous pacemaker was implanted in a patient because of complete heart block. Noncompaction of the ventricular myocardium is rare. Our patients clearly represent the clinical and morphological spectrum of this disorder. Distinct morphological features can be diagnosed on 2-dimensional echocardiography.

Cardiac troponin T and myocardial injury during routine cardiac catheterisation in children.

BACKGROUND: This study aims to investigate whether intracardiac catheterization produces myocardial damage on pediatric heart. METHODS: Five blood samples were collected (basal, immediate post procedure, at 4, 12 and 24 h after the procedure) for troponin T and creatine kinase MB (CKMB) from 48 consecutive patients (age: 5.34+/-6.03 years). The effect of age, duration of procedure, pulmonary hypertension, cyanosis, and medication taken for congestive heart failure on the levels of troponin T and CKMB were sought. RESULTS: The increase in CKMB (basal CKMB: 3.93+/-3.70 ng/ml; peak CKMB: 8.68+/-10.89 ng/ml; P<0.0001) and troponin levels (basal troponin: 0.002+/-0.003 ng/ml; peak troponin: 0.11+/-0.23 ng/ml; P<0.0001) over time was significant in the study group. Additionally younger patients (25 mmHg), longer procedure time (>30 min), and patients taking anti-congestive heart failure therapy had significantly higher levels of CKMB and troponin (P>0.05). CONCLUSION: All patients undergoing cardiac catheterization are under risk of myocardial injury, and younger patients with pulmonary hypertension and especially with compensated cardiac failure have increased risk of myocardial damage, and need to be handled carefully.

Reproducibility of the head-up tilt test results in children with vasovagal syncope.

BACKGROUND: This prospective study aims to investigate the reproducibility of HUTT results in children with typical history of vasovagal syncope. METHODS: Between October 1996 and October 1999, 58 children with a history of typical vasovagal syncope attacks were evaluated with head up tilt test (HUTT). The table was tilted to 60 degrees and the patients were monitored for heart rate and blood pressure changes during 45 min. No provocative agents were used. The test was repeated a week later at a similar setting. RESULTS: Of 58 patients, 39 had positive and 19 had negative response during the initial test. During the second test, the positive response was reproduced in 29 cases (50%), and the negative response was reproduced in 16 cases (28%). Ten patients (17%) with an initial positive test had a negative second test. A negative test became positive only in three patients (5%). There were 12 vasodepressor, four cardioinhibitor and 23 mixed responses among the initial tests. Only in four patients did the type of the response change from vasodepressor to a mixed type during the second test. The reproducibility of a positive tilt test was 74.4% (29/39), the negative tilt test was 84.2% (16/19), and the overall reproducibility of the HUTT was 77.6% (45/58). CONCLUSIONS: Unprovoked HUTT in children is reproducible when repeated on different days and similar settings and the results are comparable to the ones with adult patients.