CBS 2019
CBSMD教育中心
English

科学研究

科研文章

荐读文献

Association between Coronary Collaterals and Myocardial Viability in Patients with a Chronic Total Occlusion Stent Thrombosis Risk Over Time on the Basis of Clinical Presentation and Platelet Reactivity: Analysis From ADAPT-DES Implications of Alternative Definitions of Peri-Procedural Myocardial Infarction After Coronary Revascularization Optimum Blood Pressure in Patients With Shock After Acute Myocardial Infarction and Cardiac Arrest Relationship between therapeutic effects on infarct size in acute myocardial infarction and therapeutic effects on 1-year outcomes: A patient-level analysis of randomized clinical trials Impact of tissue protrusion after coronary stenting in patients with ST-segment elevation myocardial infarction Restenosis, Stent Thrombosis, and Bleeding Complications - Navigating Between Scylla and Charybdis Timing of Oral P2Y12 Inhibitor Administration in Patients With Non-ST-Segment Elevation Acute Coronary Syndrome Prevalence of anginal symptoms and myocardial ischemia and their effect on clinical outcomes in outpatients with stable coronary artery disease: data from the International Observational CLARIFY Registry Coronary Artery Disease in Patients With Out-of-Hospital Refractory Ventricular Fibrillation Cardiac Arrest
|<<... 26 27 28 29 30 31 32 ...>>|

Clinical Trial2018 May 30;19(1):89.

JOURNAL：BMC Med Genet. Article Link

Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon

Abou Hassan OK, Haidar W, BouAkl I et al. Keywords: BMPR2; Mutation; Pulmonary hypertension

ABSTRACT

BACKGROUND - Pulmonary arterial hypertension (PAH) is a rare disease with an incidence rate of 2-6 cases per million per year. Our knowledge of the disease in the Middle East and North Africa (MENA) region is limited by the small number of clinical studies and the complete absence of genetic studies.


METHODS - Our aim was to shed light on the clinical and genetic characteristics of PAH in Lebanon and the region by using exome sequencing on PAH patients referred to the American University of Beirut Medical Center (AUBMC). Twenty-one idiopathic, hereditary and Congenital Heart Disease (CHD) PAH patients were prospectively recruited, their clinical data summarized, and sequencing performed.

RESULTS - The mean age at diagnosis was 33 years with a female preponderance of 70%. The mean pulmonary artery pressure at the time of diagnosis was 55. Genetic testing showed that 5 out of 19 idiopathic and Congenital Heart Disease PAH patients had Bone Morphogenetic Protein Receptor 2 (BMPR2) mutations at 25% prevalence, with 2 of these patients exhibiting a novel mutation. It also showed the presence of 1 BMPR2 mutation with 100% penetrance in a heritable PAH family. In the remaining cases, the lack of a complete genotype/phenotype correlation entailed a multigenic inheritance; suspected interactions involved previously associated genes T-box transcription factor 4 (TBX4), Bone Morphogenic Protein 10 (BMP10) and Growth Differentiation Factor 2 (GDF2).

CONCLUSIONS - This is the first study that looks into the genetic causes of PAH, including known and new BMPR2 mutations, in the MENA region. It is also the first study to characterize the clinical features of the disease in Lebanon.
>CBS CBS 2019

> CBS 2019

> CBS 2019 注册

> CBS 2019 会议日程

> CBS 2019 学术征集

> CBS 2019 热点

 CBSMD

> CBSMD 网站注册

> 教育中心

> 荐读文献

> Top 10 阅读文献

> 文献导读
CBS 2019 CBS 2019 主席团 教育中心 科研动态
Copyright ⓒ CBS MD Nanjing China. All rights reserved. 京ICP备16025898号-11
联系我们| Top