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. Patients presented with the characteristic features of the syndrome including blepharophimosis, ptosis, upslanted palpebral fissures with epicanthic folds, hypertelorism, long philtrum, high arched palate, micrognathia, microcephaly, and intellectual disability. Other findings were congenital heart disease (5 patients), talipes equinovarus (5 patients), genital anomalies (5 patients), autistic features (4 patients), cleft palate (2 patients), hearing loss (2 patients), and renal anomalies (1 patient). New or rarely reported findings were spherophakia, subvalvular aortic stenosis and hypoplastic nails, and terminal phalanges. Brain MRI, performed for 7 patients, showed hypogenesis or almost complete agenesis of corpus callosum. Genetic studies revealed five novel homozygous UBE3B variants. Of them, the c.1076G>A (p.W359*) was found in three patients from two unrelated families who shared similar haplotype suggesting a likely founder effect. Our results strengthen the clinical, dysmorphic, and brain imaging characteristic of this unique type of BID and extend the mutational spectrum associated with the disorder.

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. RESULTS: A total of 1200 patients were included in the study and divided according to age into 3 groups: neonates and early infants (n = 282), infants (n = 362), and children (n = 556). Procedural success, defined as a drop pressure gradient across the pulmonary valve to less than or equal to 50% of the baseline measurements, was achieved in 82.7% of the patients. Multivariate analysis revealed that only infundibular pulmonary stenosis (p value 0.032), supravalvular in association with valvular pulmonary stenosis (p value <0.001), and pulmonary valve diameter by angiogram (p value <0.001) were significant predictors of success. The presence of supravalvular in association with valvular pulmonary stenosis (p value <0.001) was associated with a lower weight (p value 0.007) and higher right ventricular pressure before the intervention (p value <0.001), and a minor immediate drop in the pressure gradient post-intervention (p value <0.001) was found to be the most significant predictor of the occurrence of complications. CONCLUSION: The absence of infundibular and supravalvular stenosis and a large pulmonary valve diameter were the most significant predictors of success.

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. Complete Echocardiographic examination was performed to all infants before, 1 week, 1 month, 3 months, 6 months, and 1 year after BPV. The RV systolic pressure and transvalvular pulmonary pressure gradient significantly decreased 1 week after BPV and continue to decrease more slowly during the period of follow-up. During follow-up, RV end-diastolic dimension increased significantly, whereas RV anterior wall thickness significantly decreased. The mean diameters of pulmonary valve annulus and tricuspid valve annulus significantly increased after BPV over the period of follow-up. RV systolic and diastolic dysfunction improved significantly as reported by reduced RV Tei index and tricuspid annular systolic velocity and increased RV E/A ratio. RV growth and function were significantly improved after BPV for critical PS in infants and neonates and catch-up growth of right ventricular structures occurred after 6 months of BPV.

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. Tricuspid annular plan systolic excursion (TAPSE) and the following RV TDI derived indexes: peak systolic velocity (S'), peak early diastolic velocity E', peak late diastolic velocity A', isovolumic acceleration (IVA) and myocardial performance index (MPI) were measured. RV had significant systolic and diastolic dysfunction; TAPSE, S' velocity, IVA, peak early diastolic velocity (E') and peak early diastolic velocity/peak late diastolic velocity (E'/A') ratio were significantly decreased while MPI was significantly prolonged compared to controls. Moreover, TAPSE, S', IVA, E', E'/A' and RV MPI were significantly correlated to LV GLS. For prediction of LV dysfunction among patients, the area under the receiver operating characteristic curve was 0.98 for RV MPI, 0.906 for RV IVA. For identifying severe LV dysfunction; RV MPI  > 0.29 had 100% sensitivity and 93.7% specificity, while the RV IVA  ≤ 3 had 84.4% sensitivity and 90.6% specificity. In pediatric patients with DCM the RV systolic and diastolic functions are affected beside the LV dysfunction. Non-conventional echocardiographic evaluation of RV function is recommended in among this cohort.