Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Blepharophimosis-ptosis-intellectual disability syndrome (BPID) is an extremely rare recognizable blepharophimosis intellectual disability syndrome (BID). It is caused by biallelic variants in the UBE3B gene with only 24 patients described worldwide. Herein, we report on the clinical, brain imaging and molecular findings of additional nine patients from six unrelated Egyptian families.

Experience with balloon pulmonary valvuloplasty and predictors of outcome: a ten-year study.

Background: Balloon pulmonary valvuloplasty is the treatment of choice for patients with moderate to severe pulmonary valve stenosis.

Methods: An observational retrospective cross-sectional study including neonates, small infants, and children who underwent balloon pulmonary valvuloplasty in the period from 2007 to 2016 in the cardiac catheterisation unit of the paediatric cardiology department in Cairo University. Multivariable models were built to report the predictors of the outcome of balloon pulmonary valvuloplasty and its complications.

Right Ventricular Growth and Function After Balloon Valvuloplasty for Critical Pulmonary Valve Stenosis in Infants and Neonates.

Little data are published about right ventricular (RV) growth and function in infants and neonates after balloon pulmonary valvuloplasty (BPV) for critical valvular pulmonary stenosis (PS). We aimed to assess the RV growth and function during 1 year after BPV for critical valvular PS in neonates and infants. A total of 41 infants and neonates with isolated critical valvular PS who underwent BPV from August 2016 to Sep 2018 were enrolled in the study.

Forgotten Right Ventricle in Pediatric Dilated Cardiomyopathy.

To evaluate the right ventricular (RV) function in relation to that of the left ventricle (LV) in patients with dilated cardiomyopathy (DCM). Echocardiographic examination was done using tissue Doppler imaging (TDI) and two-dimensional speckle tracking echocardiography (2D-STE) for 32 pediatric patients with DCM comparing them to another 32 normal matched controls. The global longitudinal strain (GLS) derived from 2D-STE was used to reflect the LV systolic function.