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.

A retrospective analysis of dexmedetomidine and morphine in the fast-track and ultra-fast-track extubation protocol after congenital cardiac surgery.

BACKGROUND AND AIM OF THE STUDY: After congenital cardiac surgery, the duration of mechanical ventilation (MV) is related to the clinical status, type of operation, and the sedative-analgesic agents used postoperatively. This study aims to examine the effects of dexmedetomidine and morphine on the fast-track extubation (FTE) and ultra-fast-track extubation (UFTE) protocol after congenital cardiac surgery. METHODS: A total of 251 pediatric patients were divided into two groups: 118 patients in the morphine group (Group M) and 133 patients in the dexmedetomidine group (Group D). We retrospectively reviewed medical data including hemodynamic parameters, duration of MV and cardiovascular intensive care unit (CICU), additional sedative/analgesic requirement, adverse events, the need for reintubation, and noninvasive MV, sedation, and pain scores. RESULTS: The mean mechanical ventilation duration of Group D was significantly shorter than Group M (3.74 ± 0.83 h in Group D, 5.72 ± 1.54 h in Group M, respectively) (p = .001; p < .05). In Group D, the success rate of FTE was 92.5% (n = 123) and UFTE was 7.5% (n = 10) (p = .001). In Group M, the success rate of FTE was 72.9% (n = 86) and UFTE was 0% (n = 0) (p > .05). CONCLUSIONS: Dexmedetomidine and morphine have clinical benefits which encourage their use for FTE protocol. Dexmedetomidine has more benefits compared to morphine. It can be used in UFTE protocol, besides its use in FTE protocol with fewer side effects.

Surgical procedures for coronary arteries in pediatric cardiac surgery: Risk factors and outcomes.

BACKGROUND: Limited data exist regarding the coronary revascularization procedures needed during the repair of several congenital and pediatric cardiac malformations. We aimed to determine risk factors for in-hospital mortality and long-term outcomes of various pediatric coronary revascularization procedures. METHODS: We retrospectively reviewed the records of 32 consecutive pediatric patients who underwent coronary revascularization procedures at our institution between May 1995 and June 2020. In-hospital mortality, risk factors, surgical indications, revascularization patency, and mid- and long-term follow-up data were investigated. Patients were categorized into the coronary artery bypass grafting (n = 11) and other coronary artery procedure (n = 21) groups. RESULTS: The median age and weight of patients at the time of surgery were 9 months and 4.8 kg, respectively. There were five in-hospital deaths (5/32, 15.6%). The mortality rates were 27.2% (3/11) in the coronary artery bypass grafting group and 9.5% (2/21) in the other coronary artery procedure group (p = .206; 95% confidence interval: 0.496-25.563). The mortality rates for planned and rescue procedures were 8.3% (2/24) and 37.5% (3/8) (p = .06), respectively. The median follow-up time was 12.5 years. Control imaging studies for coronary patency were performed in 70.3% (19/27) of surviving patients. The overall coronary patency rate was 94.7% (18/19). CONCLUSIONS: Pediatric coronary revascularization procedures with elective-planned indications can be performed with good outcomes. Young age and rescue and emergency procedures may carry an increased risk of in-hospital mortality, although not found to be statistically significant. Surviving patients require lifelong follow-up regarding the patency of reperfused coronary arteries.

Valve-sparing repair with skeletonization of the pulmonary annulus for tetralogy of Fallot.

Pulmonary valve preservation in tetralogy of Fallot (TOF) repair is one of the most challenging issues. Herein, we describe a novel valve-sparing technique for TOF repair that primarily consists of skeletonization of the anterior part of the pulmonary annulus and gentle dilatation by preserving the pulmonary valve and annulus integrity. With encouraging early results, this technique is suggested to prevent severe pulmonary regurgitation and provide acceptable relief of pulmonary stenosis in patients with TOF.

Pulmonary valve replacement in patients with repaired tetralogy of Fallot: early results for recovery of right ventricular dilatation and QRS duration

Background/aim: Although pulmonary valve replacement (PVR) improves ventricular function and symptoms, the benefit and optimal timing of PVR are controversial. This study aimed to evaluate early response to PVR for right ventricle (RV) dilatation and QRS duration. Materials and methods: Retrospective analysis was performed for 32 patients with repaired tetralogy of Fallot (TOF) between March 2005 and October 2017. The differences between preoperative and postoperative changes in echocardiographic parameters, clinical symptoms, and QRS duration were evaluated. Results: There were no in-hospital or late deaths. Mean age at the time of PVR was 16.57 ± 7.97 years. The interval between TOF repair and PVR was 12.99 ± 7.06 years. Postoperative echocardiographic findings showed significant reduction in indexed RV end-diastolic diameter (RV-EDDI) and the ratio of RV/LV-EDDI (P = 0.001 and P = 0.001, respectively). Higher preoperative RV-EDDI was associated with decreased change in RV-EDDI after PVR (r = 0.63; P = 0.001). Normalization of RV diameters was found to be independent of age at PVR, interval between TOF repair and PVR, preoperative QRS duration, and preoperative RV-EDDI. Conclusion: Significant improvement in RV diameter and symptoms could be obtained with PVR in patients with severe pulmonary regurgitation.

Coronary artery bypass grafting in children.

BACKGROUND: We present our clinical experience with coronary artery bypass grafting (CABG) in children. METHODS: Ten children who underwent CABG between July 1995 and August 2017 were retrospectively analyzed. Data including congenital cardiac malformations, previous surgical procedures, age and sex, type of coronary complications, ischemic events preceding surgery, and ventricular function before and after CABG were recorded. RESULTS: The study population consisted of five males and five females with a median age of 2.5 years (range, 88 days to 15 years). Eight internal mammary arteries (IMAs) and two saphenous veins were used for grafting. Indications for bypass grafting were coronary artery (CA) complications related to the post-arterial switch operation in six, CA complications during the Ross procedure in two, and an iatrogenic CA injury during complete repair of tetralogy of Fallot with abnormal CA, crossing the right ventricular outflow tract in two patients. Six of the grafts were performed as rescue procedures. Three patients died during hospitalization. The mean follow-up time was 6.8 years (range, 3 months to 18 years). Anastomoses were evaluated by coronary angiography in four patients, and were all patent. Echocardiography revealed normal myocardial function in all patients. CONCLUSION: Our study suggests that the IMA should be the graft of choice in children due to its growth potential and long-term patency.

A case of neonatal arterial thrombosis mimicking interrupted aortic arch.

Neonatal arterial thrombosis is a very rare entity with clinical findings resembling coarctation of aorta or interrupted aortic arch. A two day-old male newborn was admitted to a different hospital with difficulty in sucking and sleepiness. On echocardiographic examination, a diagnosis of interrupted aortic arch was made and he was treated with prostoglandin E2. When the patient presented to our center, physical examination revealed that his feet were bilaterally cold. The pulses were not palpable and there were ecchymotic regions in the lower extremities. Echocardiography ruled out interrupted aortic arch. Computerized tomographic angiography revealed a large thrombosis and total occlusion of the abdominal aorta. Since there was no response to treatment with tissue plasminogen activator, we performed thrombectomy. Homozygous Factor V Leiden and Methylenetetrahydrofolate reductase mutations were found in this patient. Neonatal aortic thrombosis which is observed very rarely and fatal should be considered in the differential diagnosis of coarctation of aorta and interrupted aortic arch.

Oral budesonide as a therapy for protein-losing enteropathy in children after the Fontan operation.

BACKGROUND AND AIM: Protein-losing enteropathy is a rare complication of the Fontan palliation surgery. Budesonide is an effective treatment option for protein-losing enteropathy. We reviewed our retrospective experience in four patients who were treated with oral budesonide. METHODS: Four patients with refractory protein-losing enteropathy after the Fontan operation were started on oral budesonide 9 mg/daily. After achieving normal serum albumin the dose was tapered to 3 mg. Response to oral budesonide, side effects, and serum albumin levels before the treatment and at first, fourth, and ninth months of the budesonide course were recorded. Efficacy was measured based on serum albumin levels and clinical symptoms. RESULTS: Mean pretherapy albumin was 2.25 g/dL (range 1.7 to 2.5 g/dL) and nine months after therapy it was 4.15 g/dL (range 3.9 to 4.4 g/dL) (p < 0.05). All patients had at least a transient improvement in serum albumin levels and clinical findings. Systemic side effects included cushingoid features and oral moniliasis. All patients had improvement in side effects after tapering budesonide to 3 mg. The treatment was terminated in one case as soon as serum albumin level exceeded 3 g/dL. One death occurred from respiratory arrest six months after budesonide discontinuation. CONCLUSION: Budesonide can be used to treat protein-losing enteropathy in selected patients with cardiac diseases.

Transposition of the great arteries and cor triatriatum: a rare combination.

In this case report, we present a 5-month-old girl diagnosed with a unique combination of transposition of the great arteries and cor triatriatum sinistra. A 1-day-old female patient presented to our hospital with cyanosis since the early neonatal period. We confirmed transposition of the great arteries by echocardiography. The patient underwent arterial switch operation on day 8 and was discharged on day 35. After 5 months of the operation, the patient had a lower respiratory tract infection and was unable to gain weight. Echocardiography revealed mild neopulmonary regurgitation, minimal neoaortic regurgitation, and pulmonary arterial hypertension. In addition, a fibrous membrane was also seen dividing the left atrium. The patient was diagnosed with cor triatriatum and underwent successful resection of the membrane.

A large intracardiac fungus ball in a premature infant.

We present a premature infant with large intracardiac mass. She had a history of sepsis and umbilical venous catheterization in the neonatal period. Twenty-seven days after withdrawal of the catheter, a precordial murmur was noted. A large right atrial highly mobile mass suspected to be thrombus was detected by echocardiography. C-reactive protein was elevated. Three blood cultures were negative. Anticoagulation treatment was started. After one week, no resolution of the thrombus was observed. The mass was surgically resected and diagnosis of thrombus infected by fungi was made on histopathological examination. Early screening of cardiac chambers by echocardiography is recommended in all preterms with intravascular catheterization.