Search

Objective: Coarctation of the aorta (CoA) accounts for 3.5% of all congenital heart diseases in children. The clinical manifestations range from heart failure to asymptomatic hypertension. Treatment options include surgical repair, balloon angioplasty, and stenting. We aimed to investigate the long-term results of surgery and balloon angioplasty to identify the possible risk factors for recoarctation and predictors associated with early success in treatment modalities. Materials and Methods: The data of 138 children who underwent examinations at a tertiary center between 2015 and 2020 with the diagnosis of CoA were evaluated. The basic demographic characteristics, clinical and echocardiographic findings, results, and treatment methods of the patients were evaluated retrospectively. Results: The mean follow-up period was 75.1 months (range of 1-223). As initial treatment, 75 patients (60.5%) underwent balloon angioplasty, 44 (35.5%) underwent surgery, and 5 (4%) underwent stenting. The early success rate of balloon angioplasty and surgery was 72.5% and 79.5%, respectively. Recoarctation occurred in 47.6% of patients following the first therapy. The median reintervention-free survival time was 138 months for all patients and was significantly higher in the surgery group (P = .025). The recoarctation rate was slightly lower in the surgery group than in those who underwent balloon angioplasty, but it was not statistically significant. None of the clinical and echocardiographic findings were found to be associated with recoarctation or early success. Conclusion: The rate of recoarctation is still high in long-term follow-up after aortic coarctation treatment, and clinical and echocardiographic findings are insufficient to predict the chance of early success and the risk of recoarctation. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Current Pediatrics / Guncel Pediatri is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Costello syndrome is probably an autosomal dominant inherited disorder that is characterized by postnatal growth retardation, developmental delay, coarse facies, loose skin, nonprogressive cardiomyopathy and friendly behavior. The aim of this study was to evaluate a variety of clinical findings and cardiac involvement of six patients diagnosed as Costello syndrome. Materials and Methods: Six cases that had a typical features of Costello syndrome admitted to pediatric cardiology department due to cardiac murmur between 2002-2013 years were evaluated. Their complaints, clinical findings, treatments and clinical courses were examined. Results: Three of the patients were male and the mean age of patients was 34±12 months (7 months to 11 years). All of the cases had coarse faces, deep palmar and plantar creases, hypertelorism, epicanthal folds, depressed nasal bridges and cardiac murmur at auscultation. Congenital heart disease was found in all patients. Five patients had pulmonary stenosis and balloon pulmonary valvuloplasty was performed in 3 of these patients. Atrial septal defect was detected in 3 patients and 1 of the patient had hypertrophic cardiomyopathy. Mental retardation was found in 2 patients. Conclusions: Costello syndrome must be keep in mind in all patients with psychomotor retardation, coarse faces, sparse hairs, deep palmar and plantar creases, phenotypical features resembling a storage disease especially in association with pulmonary stenosis and hypertrophic cardiomyopathy. [ABSTRACT FROM AUTHOR]

Congenital nephrotic syndrome ( CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS ( CNF), which is caused by mutations in the nephrin gene ( NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621del CACCCCGGins TT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years. [ABSTRACT FROM AUTHOR]