Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome

Chromosome 1p36 deletion syndrome is a common genetic anomaly (prevalence: 1 in 5,000–1 in 10,000). Despite reports of cardiovascular involvement, the cardiovascular phenotypic spectrum of patients with 1p36 deletion syndrome is not well characterized. In this article, we reported the clinical course of a full-term African American boy with chromosome 1p36 deletion syndrome and neonatal onset of severe cardiac disease with moderate-to-severe biventricular dysfunction and severe pulmonary hypertension. Early neonatal onset presentation of 1p36 deletion syndrome is rare and might be associated with a more guarded prognosis. This case based study is supplemented by a comprehensive review of cardiovascular involvement in this relatively common genetic syndrome.

A teenager with CHD and coronavirus disease 2019

A 16-year-old girl with history of treated congenital mitral valve disease and signs of respiratory infection was admitted to our paediatric cardiology department. She was tested positive for severe acute respiratory syndrome coronavirus 2. Despite her severe pre-existing cardiac conditions with pulmonary hypertension, atrial arrhythmias and mitral valve stenosis, the infection did not lead to any cardiac or pulmonary deterioration. In adults, cardiac co-morbidities are known risk factors for a severe course of coronavirus disease 2019 infections. This case illustrates that in children even severe cardiac disease is not necessarily associated with a severe course of coronavirus disease 2019.

Global evaluation of echocardiography in patients with COVID-19

Aims To describe the cardiac abnormalities in patients with COVID-19 and identify the characteristics of patients who would benefit most from echocardiography. Methods and results In a prospective international survey, we captured echocardiography findings in patients with presumed or confirmed COVID-19 between 3 and 20 April 2020. Patient characteristics, indications, findings, and impact of echocardiography on management were recorded. Multivariable logistic regression identified predictors of echocardiographic abnormalities. A total of 1216 patients [62 (52–71) years, 70% male] from 69 countries across six continents were included. Overall, 667 (55%) patients had an abnormal echocardiogram. Left and right ventricular abnormalities were reported in 479 (39%) and 397 (33%) patients, respectively, with evidence of new myocardial infarction in 36 (3%), myocarditis in 35 (3%), and takotsubo cardiomyopathy in 19 (2%). Severe cardiac disease (severe ventricular dysfunction or tamponade) was observed in 182 (15%) patients. In those without pre-existing cardiac disease (n = 901), the echocardiogram was abnormal in 46%, and 13% had severe disease. Independent predictors of left and right ventricular abnormalities were distinct, including elevated natriuretic peptides [adjusted odds ratio (OR) 2.96, 95% confidence interval (CI) 1.75–5.05) and cardiac troponin (OR 1.69, 95% CI 1.13–2.53) for the former, and severity of COVID-19 symptoms (OR 3.19, 95% CI 1.73–6.10) for the latter. Echocardiography changed management in 33% of patients. Conclusion In this global survey, cardiac abnormalities were observed in half of all COVID-19 patients undergoing echocardiography. Abnormalities were often unheralded or severe, and imaging changed management in one-third of patients.

Evaluation of safety and efficacy of laparoscopic appendectomy during pregnancy

Background: Optimal surgical approach for appendectomy during pregnancy remains controversial. The objective of this study is to evaluate (LA) during pregnancy as regard safety and outcome compared with open appendectomy (OA).Methods: Patients with acute appendicitis during pregnancy who were admitted to Sohag University Hospital from August 2014 to April 2018 were randomized to 2 groups: Group A (OA, 22 patients) and group B (LA, 20 patients). The primary end point was incidence of fetal loss. Secondary endpoints comprised preterm delivery, operative time, length of hospital stay, conversion rate and surgical complications.Results: Forty-two patients were enrolled after exclusion of three cases due to severe cardiac disease. Fourteen patients (33.3%) presented during first trimester 7 patients per group, 19 (45.2%) during second trimester 10 in group A (23.8%) and 9 in group B (21.4%) and 9 (21.4%) during third trimester 5 in group A (11.9%) and 4 in group B (9.5%). Mean maternal age was 22.3±4.2 (range, 18-38) years in group A and 21.3±3.6 (range, 17-35) years in group B. Fetal loss occurred in one patient in group A (4.5%) and in 2 patients in group B (10%). No pre-term delivery occurred in either group. Operative time was slightly longer in group A (mean op. time was 42±12 min vs. 40±11min) than in Group B. No intra operative complications occurred in either group. Hospital stay was significantly shorter in group A (1.2±1.8 days) while it was (3.6±1.1days) in group B. Wound infection occurred in two patients (10%) in group B while no post-operative complications occurred in group A.Conclusions: Forty-two patients were enrolled after exclusion of three cases due to severe cardiac disease. Fourteen patients (33.3%) presented during first trimester 7 patients per group, 19 (45.2%) during second trimester 10 in group A (23.8%) and 9 in group B (21.4%) and 9 (21.4%) during third trimester 5 in group A (11.9%) and 4 in group B (9.5%). Mean maternal age was 22.3±4.2 (range, 18-38) years in group A and 21.3±3.6 (range, 17-35) years in group B. Fetal loss occurred in one patient in group A (4.5%) and in 2 patients in group B (10%). No pre-term delivery occurred in either group. Operative time was slightly longer in group A (mean op. time was 42±12 min vs. 40±11min) than in Group B. No intra operative complications occurred in either group. Hospital stay was significantly shorter in group A (1.2±1.8 days) while it was (3.6±1.1days) in group B. Wound infection occurred in two patients (10%) in group B while no post-operative complications occurred in group A.

Cholecystoduodenal Stenting: An Option in Complicated Acute Calculous Cholecystitis in the Elderly Comorbid Patient

We describe the course of an 84-year-old lady with acute calculous cholecystitis. She was unable to have a cholecystectomy due to multiple comorbidities including morbid obesity, type 2 diabetes, Guillain–Barrè syndrome, chronic sacral pressure ulcer, and severe cardiac disease. Conservative treatment with intravenous antibiotics was initially successful; however, she subsequently re-presented with an empyema of the gallbladder. She was readmitted for further intravenous antibiotics and underwent percutaneous gallbladder drainage. The patient did not want a permanent catheter for drainage, nor the prospect of repeat drainage procedures in the future for recurrent cholecystitis. Following a discussion of the rationale and risks involved with other minimally invasive techniques, she underwent cholecystoduodenal stent placement following disimpaction and removal of cystic duct stones. The procedure restored antegrade gallbladder drainage, and at 18 months she remains symptom-free from her gallbladder. Long-term management of recurrent cholecystitis in elderly comorbid patients commonly includes permanent cholecystostomy or repeated percutaneous gallbladder drainage, both of which can be poorly tolerated. Permanent cholecystoduodenal stenting is a reasonable alternative in carefully considered patients in whom the benefits outweigh the risks. We describe our experience with cholecystoduodenal stenting and discuss some of the concerns and considerations with this technique.

Rare Cause of Wide QRS Tachycardia

Cardiac involvement is a well-known feature of neuromuscular diseases. Most commonly cardiac manifestations occur later in the course of the disease. Occasionally severe cardiac disease, including conduction disturbances, life-threatening arrhythmias, and cardiomyopathy, with its impact on prognosis, may be dissociated from peripheral myopathy. We report a case of bundle branch reentrant ventricular tachycardia as primary manifestation of myotonic dystrophy and discuss associated diagnostic and treatment challenges.