A Case of William’s Syndrome in a Ugandan Child: A Feasible Diagnosis Even in a Low-Resource Setting

Background: Williams–Beuren syndrome (WS) is a rare, complex, congenital developmental disorder including cardiovascular manifestations, intellectual disability and a peculiar cognitive and behavior profile. Supravalvular aortic stenosis (SVAS) is the most frequent cardiovascular abnormality in WS children. Data on WS patients in sub-Saharan Africa are scarce. A genetic study is usually required for a definite diagnosis, but genetic testing is often unavailable in developing countries and the combination of a typical clinical phenotype and echocardiographic profile helps to confirm the diagnosis. Case Report: We report the case of a 5-year-old Ugandan child admitted to a large no profit hospital after he was initially managed as a case of infective endocarditis. A physical examination revealed the typical features of WS. A cardiac echo showed severe SVAS (peak gradient 80 mmHg) with a normal anatomy and function of the aortic valve and mild valvular pulmonary stenosis. The child also had a moderate intellectual disability and a characteristic facies consistent with WS. Conclusion: We present the first reported case of WS in Uganda. Cardiac echo and a characteristic clinical picture could be enough to exclude more common causes of heart failure (i.e., rheumatic heart disease) and to make the diagnosis even when specific genetic tests are not available.

Percutaneous balloon pulmonary valvuloplasty in a young lady with coexisting repaired patent ductus arteriosus

An asymptomatic woman aged 24 years was informed about the presence of a heart murmur by her attending obstetrician while she was hospitalised for a spontaneous abortion 6 months ago and was subsequently referred to us to rule out underlying heart disease. After clinical examination and relevant laboratory evaluation, a diagnosis of severe valvular pulmonary stenosis (PS) was established. Interestingly, our patient had undergone an open thoracotomy for surgical closure of a patent ductus arteriosus (PDA) under general anaesthesia 12 years ago in the absence of any appreciable shunt across the ligated ductus at present. Considering the severe gradient across her pulmonary valve, she underwent a successful percutaneous balloon pulmonary valvuloplasty (PBPV) procedure with excellent haemodynamic outcome. The pertinent literature concerning the rare combination of PDA in association with PS as well as the technicalities of PBPV procedure in an adult are discussed.

Comparative Study between 3D Echocardiography Right Ventricular -Volumes and Functions- and Invasive RV Quantification in children with valvular pulmonary stenosis pre and post balloon Dilation

Aim and objectives The aim of this study was To correlate between 3D echocardiographic assessment of RV volumes and functions with invasive RV quantification by angiography in children with mainly valvular pulmonary stenosis undergoing balloon pulmonary valvuloplasty pre & post balloon dilation, to evaluate the immediate impact of relieving obstruction on RV volumes. Patients and Methods The study included 25 patients in the pediatric age group (up to 18 years old) with Pulmonary valve stenosis referred to our congenital and structural heart disease unit cardiology department in Ain shams university hospital for balloon pulmonary valvuloplasty. All patients were subjected to history taking, clinical examination and ECG recording. Then echocardiographic assessment by 2D and 3D was done to all patients pre and post BPV. All patients were subjected to have pre and post RV angiography for assessment of RV volumes and functions angiographically. Results The study included 25 patients,65% of patients were males and 44% were females, mean of age was 22.79 with range from 2 to 144 months There was statistically significant increase in 3D Echo RV quantification post BPV in comparison to 3D Echo RV quantification pre BPV with RV/EDV(p-value:0.001), RV/ESV(p-value:0.034), RV/SV(p-value:0.002), FAC %(p-value:0.014), TAPSE(p-value:0.001). Also,there was statistically significant increase in angiographic RV quantification post BPV in comparison to angiographic RV quantification pre BPV with EDV(p-value:<0.001), ESV(p-value:<0.001), SV(pvalue:<0.001) and EF %(p-value:<0.001). Conclusion 3DE RV volumes and function shows good correlation and agreement with invasive RV quantification by angiography in children with valvular pulmonary stenosis undergoing balloon pulmonary valvuloplasty.

Case Presentation - Biventricular Hypertrophy and Valvular Pulmonary Stenosis in Adult Patient with Noonan Syndrome: A Rare Case

Introduction: Noonan syndrome (NS) is a genetic disorder often accompanied by multiple congenital abnormalities. The prevalence of NS at live birth has been reported as one in 1000-2500 individuals. About 80% of patients with Noonan syndrome have abnormalities in the cardiovascular system.Case presentation:41-year-old Javanese male presented with chief complaint shortness of breath. His Body Mass Index (BMI) was 18,3. He had an oval-shaped face with a short neck, thin hair, and prominent nasolabial fold. Echocardiography showed biventricular hypertrophy alongside pulmonary valve stenosis, pulmonary regurgitation and minimal pericardial effusion. Discussion: In 1962, Jacqueline Noonan, a pediatric cardiologist, identified 9 patients whose faces were very similar, had short stature, significant chest deformities, and with pulmonary stenosis. Noonan syndrome is a relatively common non-chromosomal syndrome that is similar to the phenotype of Turner's syndrome and presents with cardiovascular malformations. Adult with NS has distinctive facial features such as ptosis, wide eyes, low posterior rotation of ears and helical thickening, and a wide neck.Pulmonary stenosis is the most common heartdefect found in NS, besides HCM isalsoquitecommon inabout20% of patients. We reported a case of a patient with typical characteristics of NS such as pulmonary valve stenosis accompanied by biventricular ventricular hypertrophyand its typical face who survived through adulthood.Conclusion: Syndrome Noonan in the adult is quite rare and difficult to diagnose. We reported a case of an adult man with facial appearance and echocardiographic findings identical with Noonan Syndrome.

Successful simultaneous transcatheter treatment for secundum atrial septal defect with valvular pulmonary stenosis in children under transthoracic echocardiography guidance

BACKGROUND Transcatheter device closure of secundum atrial septal defect (ASD) with valvular pulmonary stenosis (PS) under fluoroscopy and/or transesophageal echocardiography (TEE) guidance is a mature technology. However, little study has focused on whether the technology can be guided totally by transthoracic echocardiography (TTE), even in children.METHODS Thirteen children with ASD combined with PS underwent transcatheter device closure totally guided by TTE at our cardiac center from March 2 016 to August 2 019. Percutaneous transcatheter pulmonary valvuloplasty was performed first and then transcatheter closure of the ASD uneventfully.RESULTS All cases were successfully treated with transcatheter balloon pulmonary valvuloplasty and closure of ASD respectively via femoral vein approach solely under TTE guidance. The mean defect size was 8.1±1.4 mm (range: 5.5-10 mm), the preoperative mean pressure gradient across pulmonary valve was 61.2±5.5 mmHg (range: 51-71 mmHg). The mean device size used was 11.1±1.9 mm (range: 8- 14 mm), the mean procedure time was 55.1±8.0 min (range: 45-71 min). There were no serious cardiovascular related complications. During the follow-up period (10 mon to 47mon), no arrhythmias device, thrombosis, residual fistulas or device frame fractures were detected. PS gradient had significant difference before and after procedure during the follow up (t=28.9, P =0.000).CONCLUSION Simultaneous transcatheter treatment for ASD complicated by PS in children under TTE guidance is an safe and effective therapeutic option.

Unconventional deployment of atrial septal occluder in a patient with atrial septal defect, dextrocardia, and interrupted inferior vena cava

An atrial septal defect is a rare anomaly in patients with interrupted inferior vena cava, which renders the percutaneous intervention more complex; and hence, innovative approaches should be sought. Dextrocardia further complicates the procedure, and traditional atrial septal device deployment methods cannot be employed. We report a successful percutaneous secundum atrial septal defect closure by a novel deployment strategy along with balloon dilation of associated severe valvular pulmonary stenosis in a patient with dextrocardia and interrupted inferior vena cava.