A Case of Osseocartilaginous Defects and Cardiovascular Anomalies: An Ambiguous Entity

A 24-year-old man presented with a history of palpitation and haemoptysis. He had a short stature, cardiac anomalies and physical deformities, including polydactyly, clubbing, cataracts and cyanosis. Echocardiography was performed, revealing both atrial and ventricular septal defects, along with severe pulmonary hypertension and Eisenmenger syndrome.

Pulmonary Artery Sling with Tracheal Stenosis Combined with A Large Ventricular Septal Defect in A Two-Month-Old Boy: A Case Report

Pulmonary artery sling (PAS) is a rare congenital cardiovascular abnormality. In typical PAS patients, the left pulmonary artery (LPA) arises from the right pulmonary artery and passes between the trachea and esophagus, which possibly causes tracheal stenosis and some respiratory symptoms. PAS typically associates with other cardiovascular anomalies, which may cause difficulties to the treatment of patients. This report described a rare case of a two-month-old boy with PAS, VSD, and tracheal stenosis simultaneously and underwent procedures without tracheoplasty.

Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature

Seckel syndrome is a very rare autosomal recessive disorder also known as bird headed dwarfism”. It is characterised by proportional short stature, low birth weight, dysmorphic facial appearance, and mental retardation. In addition to its dysmorphic features, skeletal, endocrine, gastrointestinal, haematologic, genitourinary, and nervous system has been involved. Cardiovascular features very rarely associate with Seckel syndrome. We report two patients with Seckel syndrome, one with dilated cardiomyopathy and the other with multiple ventricular septal defects. Dilated cardiomyopathy and isolated ventricular septal defect have not been previously reported in Seckel syndrome. Cardiovascular evaluation should be performed in all patients with Seckel syndrome. Early diagnosis of congenital and acquired heart diseases will reduce morbidity and mortality in these patients.

Hypogonadotropic-hypogonadism (Kallman Syndrome) in Young Adult

Background: Kallmann syndrome (KS) is a rare disorder first described in 1856 and later studied by Kallmann in 1944. It is now designated as olfactogenital dysplasia with an association between agenesis of the olfactory bulbs and hypogonadism. The prevalence of KS is still unknown. The reported incidence is 1 in 8000 to 1 in 10 000 in men and rare in women. More than 24 genes are underlying KS that have been identified. Mutations in these genes are thought to interfere with the expression of cell markers that guide migrating neurons, leading to failed migration of GnRH neurons and olfactory neurons to the forebrain during fetal development. The main clinical characteristics of KS include hypogonadotropic hypogonadism and anosmia or hyposmia. Less common phenotypes include cardiovascular anomalies, unilateral renal agenesis, cleft palate and cleft lip, cryptorchidism and osteoporosis. Magnetic resonance imaging (MRI) can show abnormalities of the olfactory system and other forebrain structures. Other exceptions may be discovered using MRI because of its high resolution and multiplanar capabilities, such as pituitary abnormalities.

Kabızlık ve Üfürümle Tespit Edilen Williams-Beuren Sendromu

Williams-Beuren Syndrome Detected with Constipation and Murmur Williams-Beuren syndrome (WBS) is a rare disease that occurs as a result of microdeletion of 11.23 of the long arm of chromosome 7, with a frequency of 1/20.000-30.000. Typical facial appearance, mental retardation, various congenital cardiovascular anomalies and endocrinological disorders may accompany this syndrome. In cases suspected as a result of clinical and laboratory findings, the diagnosis is made by showing the deletion of the mentioned region using the fluorescent in situ hybridization (FISH) method. We detected WBS in a 17-month-old male patient who presented with chronic constipation and had peripheral pulmonary stenosis in echocardiography performed with accompanying clinical findings, and aimed to emphasize the importance of multidimensional evaluation and early diagnosis. Keywords: Congenital heart disease, pulmonary stenosis, microdeletion syndromes, constipation, Williams-Beuren syndrome

Airway Malacia: Clinical Features and Surgical Related Issues, a Ten-Year Experience from a Tertiary Pediatric Hospital

Background: Few studies have been carried out with the aim of describing the clinical course and follow-up of patients with tracheomalacia. We aim to describe the symptoms at diagnosis and the post-treatment clinical course of patients affected by airway malacia. Methods: We retrospectively analyzed characteristics of pediatric patients with a diagnosis of airway malacia. Patients were classified into three groups: bronchomalacia (BM), tracheomalacia (TM) and tracheo-bronchomalacia (TBM). Demographic and clinical data, diagnostic work-up and surgical treatment were recorded. Results: 13/42 patients were affected by congenital syndromes (30.9%). Esophageal atresia with or without tracheal-esophageal fistula (EA/TEF) was detected in 7/42 patients (16.7%). Cardiovascular anomalies were found in 9/42 (21.4%) and idiopathic forms in 13/42 (30.9%). BM occurred in 7/42 (16.6%), TM in 23/42 (54.7%) and TBM in 12/42 (28.6%). At the diagnosis stage, a chronic cough was reported in 50% of cases with a higher prevalence in EA/TEF (p = 0.005). Surgery was performed in 16/42 (40%) of children. A chronic cough and acute respiratory failure were correlated to the need for surgery. During follow-up, there was no difference in persistence of symptoms between conservative vs surgical treatment (p = 0.47). Conclusion: the management of tracheomalacia remains a challenge for pediatricians. Clinical manifestations, such as a barking cough and acute respiratory failure may suggest the need for surgery. Follow-up is crucial, especially in those patients affected by comorbidities, so as to be able to manage effectively the possible persistence of symptoms, including those that may continue after surgical treatment.

Urinary Metabolomics Study of Patients with Bicuspid Aortic Valve Disease

Bicuspid aortic valve (BAV) is the most common congenital heart defect responsible for valvular and aortic complications in affected patients. Causes and mechanisms of this pathology are still elusive and thus the lack of early detection biomarkers leads to challenges in its diagnosis and prevention of associated cardiovascular anomalies. The aim of this study was to explore the potential use of urine Nuclear Magnetic Resonance (NMR) metabolomics to evaluate a molecular fingerprint of BAV. Both multivariate and univariate statistical analyses were performed to compare the urinary metabolome of 20 patients with BAV with that of 24 matched controls. Orthogonal partial least squared discriminant analysis (OPLS-DA) showed statistically significant discrimination between cases and controls, suggesting seven metabolites (3-hydroxybutyrate, alanine, betaine, creatine, glycine, hippurate, and taurine) as potential biomarkers. Among these, glycine, hippurate and taurine individually displayed medium sensitivity and specificity by receiver operating characteristic (ROC) analysis. Pathway analysis indicated two metabolic pathways likely perturbed in BAV subjects. Possible contributions of gut microbiota activity and energy imbalance are also discussed. These results constitute encouraging preliminary findings in favor of the use of urine-based metabolomics for early diagnosis of BAV.

Incidence and risk factor of vocal cord paralysis following slide tracheoplasty for congenital tracheal stenosis: a retrospective observational study

Background: Slide tracheoplasty for congenital tracheal stenosis (CTS) has been shown to improve post-operative outcomes, but the incidence and risk factors of vocal cord paralysis (VCP) following slide tracheoplasty remain unclear. This study aimed to review our experience of slide tracheoplasty for CTS with a focus on post-operative VCP. Methods: Twenty-eight patients, who underwent tracheal reconstruction with or without cardiovascular repair at Kobe Children’s Hospital between June, 2016 and March, 2020 were enrolled in this retrospective observational study. They were divided into two groups based on the presence of a pulmonary artery sling (PA sling). Perioperative variables were compared between the two groups. Results: Twenty-one of the 28 patients underwent concomitant repair for associated cardiovascular anomalies, including 15 patients with PA sling. The overall incidence of VCP following slide tracheoplasty was 28.6%. The incidences of VCP were 46.7% in patients with CTS and PA sling, which were 14.3% in CTS patients without cardiovascular anomalies. The only risk factor associated with VCP following slide tracheoplasty was a concomitant repair for PA sling. Post-operatively, the duration of nasogastric tube feeding in patients with VCP was significantly longer than that in patients without VCP. Conclusions: The incidence of VCP following slide tracheoplasty for CTS was high, especially in concomitant repair cases for PA sling. Routine screening and evaluation of VCP soon after post-operative extubation is required for its appropriate management.

Low-Dose Dual-Source Computed Tomography for Evaluating Persistent Truncus Arteriosus Associated with Cardiovascular Anomalies: Comparison with Transthoracic Echocardiography

BackgroundTo assess the morphological features of persistent truncus arteriosus (PTA) on low-dose dual-source computed tomography (DSCT) and compare its diagnostic value for associated cardiovascular anomalies with that of transthoracic echocardiography (TTE).Methods:Twenty-four PTA patients were enrolled in this retrospective study. The types of PTA, diameters of the truncus artery (TA), main pulmonary artery (MPA), right pulmonary artery (RPA), left pulmonary artery (LPA), and ventricular septal defect (VSD) on DSCT were recorded. Besides, all associated cardiovascular abnormalities were assessed. The diagnostic performance of DSCT and TTE for associated anomalies were compared. The effective doses of DSCT were calculated.Results:Four types were found: type A1(n=13/24, 54.17%), type A2(n=7/24, 29.16%), type A3（n=3/24, 12.50%）and type A4(n=1/24,4.17%). The mean diameter of VSD, TA, MPA, RPA, and LPA was 1.47±0.56cm, 3.92±1.56cm, 2.27±1.65cm, 1.48±0.74cm and 1.38±0.66cm, respectively. 78 associated cardiovascular anomalies were confirmed. The most common associated abnormalities were VSD (100%), right-sided aortic arch (33.33%) and aortopulmonary collateral vessels (29.17%). Although TTE was better at diagnosing intracardiac anomalies (accuracy:99.17% vs. 95%; sensitivity: 97.06% vs. 88.24%; specificity: 100% vs. 97.67%), DSCT had an advantage in diagnosing the associated cardiovascular abnormalities (accuracy: 98.61% vs. 96.07%; sensitivity: 94.87% vs. 82.05%; specificity: 99.44% vs. 99.15%). The estimated mean effective doses was 0.98±0.37mSv (＜1mSv). Conclusions:Low-dose DSCT could accurately confirm the morphological features of PTA. Compared to TTE, low-dose DSCT is a better diagnostic tool for associated cardiovascular abnormalities. Combining with TTE will be beneficial to provide more accurate information for clinical interventions.

Common arterial trunk and double aortic arch: a rare association

Background: The association of double aortic arch and common arterial trunk is extremely rare. The initial surgical approach depends on the patient’s clinical condition and associated cardiac anomalies. Aim: To report a rare association of common arterial trunk with double aortic arch in a 4-month-old female infant. Methods: description of case of a rare association where double aortic arch was not diagnosed initially, surgical repair was done successfully. Results and conclusions: associated cardiovascular anomalies may have an impact on management and outcome. Magnetic resonance imaging and computed tomography may be useful in assessment of this rare association. Complete repair has favorable outcome.