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Your search keyword '"Mohamed Hesham Mashali"' showing total 2 results
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2 results on '"Mohamed Hesham Mashali"'

1. Phenotypic expansion of Zimmermann- Laband syndrome associated with cardiac and hearing loss: a case report

Author

Mohammed Omar Galal, Mohamed Hesham Mashali, Ahmad Zaheer, and Zuhair Rahbeeni

Subjects
zimmermann-laband syndrome, agenesis of left pulmonary artery, deafness, nail hypoplasia, inheritance, Genetics, QH426-470
Abstract

Background: ATP6V1B2 gene mutation is associated with Zimmermann-Laband syndrome 2 (ZLS2), which is a rare developmental disorder characterized by nail hypoplasia and hereditary deafness. Case Presentation: We report a new phenotypic mutation of ATP6V1B2 associated with ZLS 2. The patient has atresia of the left pulmonary artery (LPA) and features of hearing loss and nail hypoplasia. The other interesting part is that the child had two types of mutations inherited from father and mother. He is carrier for GJB2 mutation (inherited from father) and diseased with ATP6V1B2 mutation (inherited from mother). Conclusion: The association of ZLS features with absent LPA was not reported previously in the literature. This finding will add new information to the database of previously reported ATP6V1B2 rare mutations. [JBCGenetics 2021; 4(2.000): 122-125]

Published
2021
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2. Mitral valve replacement in dilated cardiomyopathy: A valid option?

Author

Nashwa Badawi, Mohamed Hesham Mashali, and Mohammed Omar Galal

Subjects
medicine.medical_specialty, Viral Myocarditis, medicine.medical_treatment, Dilated cardiomyopathy, Mitral valve surgery, Case Report, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, cardiovascular diseases, 030212 general & internal medicine, Children, Mitral regurgitation, business.industry, Mitral valve replacement, medicine.disease, Pneumonia, Heart failure, Failure to thrive, cardiovascular system, Cardiology, medicine.symptom, Cardiology and Cardiovascular Medicine, business
Abstract

Background Dilated cardiomyopathy (DCM) is characterized by left ventricular dilation and dysfunction. The association with significant mitral regurgitation worsens the prognosis. Case report A 2-year-old girl presented with DCM and severe mitral regurgitation. She had a history of viral myocarditis at the age of 4 months, necessitating recurrent hospital admissions for management of intractable heart failure, pneumonia, and failure to thrive. The decision was taken to proceed for mitral valve surgery, which ended with mitral valve replacement. Over 3 years of follow-up after surgery, there was significant improvement in her weight gain and she improved clinically. There were still recurrent admissions, but mostly for adjustment of her deranged anticoagulation medications. Conclusion Mitral valve surgery might be indicated in selected patients with DCM.

Published
2020
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