The expression of the gene seems to determine severity of cardiac involvement in geleophysic dysplasia

BackgroundGeleophysic dysplasia is an extremely rare autosomal recessive acromelic skeletal dysplasia characterized by short stature and short limbs, joint contracture and cardiac involvement. It has been described worldwide in less than 40 patients. We describe the cardiac involvement in three girls of a Saudi family who showed different severity of the cardiac involvement.Clinical descriptionThree sisters referred from general pediatrics over a period 5 years, because of dysmorphic features and heart murmur. The parents are first degree cousins, they have a boy who is now 3 years old and is quite normal in regard of his growth and development.The older sister is 8 years old, the next is six years, and the third is two years old. All three girls were born full term spontanous delivery and had history of respiratory problems with frequent hospital admissions. They are all short for their ages (less than 3rd centile). Furthermore they share dysmorphic features in a form of small hands and feet, hypertelorism, depressed nasal bridge and anteverted narse. They all have contracture at both elbows and knees with inability to flex all to full range of flexion. They are happy and very friendly children, mentally normal and seem to be intellectually appropriate for their age. Genetic studies were done which confirmed the heterogenicity of the ADAMTSL2 gene in the older child.The three girls have associated cardiac lesions with different expression. The older has a mild pulmonary and aortic valve stenosis, the second has thicking of mitral valve and the youngest moderate to severe aortic and pulmonary valve stenosis.DiscussionGeleophysics dysplasia (GD) has been described in 1960 as a form of atypical gargoylism by Vanace et al. and described by Spranger et al 1971 as a focal mucopolysacchriodosis. The disease is now considered as a severe form of acromelic skeletal dysplasia which is a rare form of dysplasia including three disorders: geleophysic dysplasia, Weill-Marchesani and acromicric dysplasia. Up to date there are less than 40 reported cases with GD. All of these patients have a combination of cardiac valve involvement. The most frequent cardiac lesions described being the mitral valve, then the aortic valve followed by pulmonary valve and the least is tricuspid valve. Spranger described one girl with atrial septal defect(ASD) and patent arterial duct (PDA) without valvular involvement. Pontz and Santolaya seperately described 5 cases with normal cardiac structure. Until todate there is a believe that the valve involvement show progression over time.ConclusionsThere are very few case reports describing the cardiac involvement in this condition but none is from the Middle East. Almost most of the cardiac conditions affect the cardiac valves in a form of thickening leading to stenosis in one or more of the cardiac valves. Most of the cases suggest progression of the disease. In our three cases the younger has the most severe form of valve involvement. This suggests that the expression of the gene could determine the severity of the disease, rather than the suggested progression with age

Angiotensin converting enzyme inhibitor as an additive treatment after successful balloon dilation of a critical pulmonary valve stenosis

AbstractA 2days old, 2.7kg heavy baby boy with critical pulmonary stenosis, underwent successful balloon dilation. After the uneventful procedure, he remained oxygen dependent. The baby was given oral angiotensin converting enzyme inhibitor (ACE inhibitor), instead of an infusion of alpha blocker.Within few hours, in the afternoon of the same day after administration of ACE Inhibitor, the baby could be weaned off oxygen, maintaining on room air, oxygen saturation between 87% and 92%. At follow-up, two months later, his saturation was 99% on room air.We believe that some neonates with critical pulmonary valve stenosis who remain oxygen dependent despite successful balloon dilation, could benefit from such management

Stereotactic Body Radiation Therapy (SBRT) for prostate cancer: Preliminary results of toxicity

To the Editor, Prostate cancer is the second most common cancer in men in Morocco after lung cancer. External radiotherapy (RTE) is a curative therapeutic option for localized prostate cancer, However the conventional RTE remains a long treatment (7- 8 weeks, 5 days a week) which is demanding for patients and make difficult to manage the waiting lists. The development of imaging and irradiation techniques over the last decades has allowed a high precision in the delivery of the dose to the target organ and a better protection of the organs at risk (OAR), which has encouraged the hypo fractionated irradiation of localized prostate cancer, especially after the results of radiobiology studies that suggested a low report a/b for the prostate.</jats:p

Combined Semilunar Valve Stenoses in Neonates: Management Approaches and Literature Review

Combination of right and left ventricular outflow tracts obstruction is extremely rare. Neonates with combined aortic stenosis (AS) and pulmonary stenosis (PS) present in critical condition and required urgent treatment. The management approach is not well defined. We report five female neonates with combined AS and PS presented to our institute in the last 5 years, age (1-18 days), weight (2.2-3.4 kg). Two had associated muscular ventricular septal defects. The mean Doppler gradient across the aortic valve (AV) was 73 mmHg (53-105 mmHg) and across the pulmonary valve was 62 mmHg (44-76 mmHg). Three had balloon dilatation and one surgical repair. The fifth patient was managed conservatively, but had sudden cardiac death at age of 3 months. One patient arrived in shock and sepsis, underwent emergency balloon dilation of the AV in the ICU. Despite decreasing the gradient, she died next day after the procedure. The surviving children were well at median follow-up age of 3.4 years. This is an extremely rare combination which needs early intervention. The management approach is not well defined. Interventional catheterization is possibly the better option

Impact of Interatrial Communication on Left Ventricle Performance in Patients with Significant Post-tricuspid Shunt.

Infants with post-tricuspid valve shunts (PTS) may benefit from interatrial communication (IAC). The effect of IAC on left ventricular (LV) performance in these patients was studied. IAC was documented prospectively in 55 patients with PTS. Clinical status, echocardiographic dimensions of LV, mitral inflow Doppler, tissue Doppler velocities and time intervals were measured. Creatinine kinase (CK), CKMB, troponin-I and NT pro-brain natriuretic peptide (NT pro-BNP) were measured. Patients were divided into four groups: (A) PTS but no IAC (n = 32); (B) PTS and IAC (n = 23); (C) VSD but no IAC (n = 16); and (D) VSD and IAC (n = 19). Group A had more frequent mitral regurgitation (p = 0.041), larger mitral annulus (1.80 vs. 1.30 cm, p < 0.0001) and larger LV systolic and diastolic dimensions (2.01 vs. 1.40 and 3.28 vs. 2.35 cm, p < 0.001) than group B. The E-wave deceleration time tended to be longer in group A (121.0 vs. 106.8 ms, p = 0.06). By tissue Doppler, group A had E'- and S-waves significantly taller (15.51 vs. 13.14 and 7.69 vs. 6.72 cm, p = 0.04 and p = 0.005, respectively) than group B. Also, NT pro-BNP was significantly higher in group A (1116.15 vs. 458.73 pg/ml, p = 0.028). Group C had significant larger mitral z-score values (1.2 vs. 0.01, p < 0.001), larger LV diameter z-score (p = 0.001) and higher NT pro-BNP level (1477.37 vs. 451.66 pg/ml, p = 0.001) than group D. There was no significant difference in the clinical status between the groups. In children with PTS, the presence of IAC could be beneficial. Their echocardiographic parameters and biomarker show better systolic and diastolic LV performance