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Dr. Ahmed Mahmoud Bendary :: Publications: |
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| Title: | Genomic and clinical predictors of cardiovascular disease in Familial dyslipidemia: risk stratification in Egyptian adolescents and young adults |
| Authors: | Ammal M. Metwally, Nesma M. Elaraby, Wafaa M. Ezzat, Mark O. Dimitry, Ghada A. Elshaarawy, Neveen A. Ashaat, Ashraf Reda, Ahmed Bendary, Mohamed H. Abbas, Tarek R. El Mawardy, Walaa A. Basha, Iman H. Kamel & Engy A. Ashaat |
| Year: | 2025 |
| Keywords: | Familial Dyslipidemia, Cardiovascular Risk Prediction, Next85 Generation Sequencing, LDLR Variants, Composite Risk Score |
| Journal: | Lipids in Health and Disease |
| Volume: | Not Available |
| Issue: | Not Available |
| Pages: | Not Available |
| Publisher: | Springer Nature |
| Local/International: | International |
| Paper Link: | |
| Full paper | Ahmed Mahmoud Bendary_s12944-025-02814-0_reference.pdf |
| Supplementary materials | Not Available |
| Abstract: |
Familial dyslipidemia (FD), particularly familial hypercholesterolemia (FH), is a major contributor to premature cardiovascular disease (CVD), especially in regions with high consanguinity and underutilized genetic screening, such as Egypt. This study aimed to assess clinical, biochemical, and genetic factors that differentiate FD patients with and without CVD, and to develop a composite risk score for individualized stratification. A cross-sectional study was conducted on 60 Egyptian patients aged 15–25 years with genetically confirmed FD, equally divided based on CVD status. All participants underwent detailed clinical assessment, lipid profiling, and targeted next-generation sequencing of LDLR, APOB, and PCSK9 genes. Missense variants were evaluated using SIFT, PolyPhen-2, CADD, and ΔΔG stability scores, and classified according to ACMG criteria. Compared to non-CVD patients, those with CVD had significantly higher triglyceride levels (median: 356.5 vs. 236.5 mg/dL; p |
