Discovery of a novel mutation F184S (c.551T>C) in GATA4 gene causing congenital heart disease in a consanguineous Saudi family.

Background & Aim: Congenital heart disease (CHD) is the most common cause of non-infectious deaths in infants worldwide. However, the molecular mechanisms underlying CHD remain unclear. Approximately 30 % of the causes are believed to be genetic mutations and chromosomal abnormalities.

KDM3A knockdown regulates COMP, LOX, COL8A1 and ACOT1 genes in myocardial fibrosis.

Cardiovascular disease (CVD) is one of the main causes of death in Saudi Arabia. Cardiac remodeling plays a critical role in the pathophysiology of heart failure. Major focus of our study was to identify crucial genes involved in the pathological remodeling of the heart caused by pressure overload.

STEMI and COVID-19 Pandemic in Saudi Arabia.

The COVID-19 pandemic had significant impact on health care worldwide which has led to a reduction in all elective admissions and management of patients through virtual care. The purpose of this study is to assess changes in STEMI volumes, door to reperfusion, and the time from the onset of symptoms until reperfusion therapy, and in-hospital events between the pre-COVID-19 (PC) and after COVID-19 (AC) period. All acute ST-segment elevation myocardial infarction (STEMI) cases were retrospectively identified from 16 centers in the Kingdom of Saudi Arabia during the COVID-19 period from January 01 to April 30, 2020.

Clinical Presentation and Outcome of Patients With Spontaneous Coronary Artery Dissection Versus Atherosclerotic Coronary Plaque Dissection.

Background: Atherosclerotic coronary plaque dissection (ACPD) is one cause of acute coronary syndrome (ACS) caused by underlying atherosclerosis. Spontaneous coronary artery dissection (SCAD) occurs outside the setting of atherosclerosis among young women and individuals with few or no conventional atherosclerotic risk factors, and has emerged as an important cause of ACS, and sudden death. A comparison between ACPD and SCAD has not been previously addressed in the literature.

Spontaneous Coronary Artery Dissection in Relation to Physical and Emotional Stress: A Retrospective Study in 4 Arab Gulf Countries.

Spontaneous coronary artery dissection (SCAD) has emerged as an important cause of acute coronary syndrome and sudden cardiac death. The triggers for SCAD often do not include traditional atherosclerotic risk factors. The most commonly reported triggers are extreme physical or emotional stress.

Interpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach.

Background: Apolipoprotein E (APOE) gene is a ligand protein in humans which mediates the metabolism of cholesterol by binding to the low-density lipoprotein receptor (LDLR). P.Leu167del mutation in APOE gene was recently connected with Familial Hypercholesterolemia, a condition associated with premature cardiovascular disease.

An audit of in-hospital cardiopulmonary resuscitation in a teaching hospital in Saudi Arabia: A retrospective study.

Objectives: Data reflecting cardiopulmonary resuscitation (CPR) efforts in Saudi Arabia are limited. In this study, we analyzed the characteristics, and estimated the outcome, of in-hospital CPR in a teaching hospital in Saudi Arabia over 4 years.

Methods: A retrospective, observational study was conducted between January 2009 and December 2012 and included 4361 patients with sudden cardiopulmonary arrest.

The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.

Background: Familial hypercholesterolemia (FH) is a life-threatening inherited condition. Untreated patients have the risk to develop raised plasma levels of cholesterol, atherosclerosis and cardiovascular disease (CVD). If diagnosed and treated early in life, the pathological consequences due to atherosclerosis could be avoided and patients with FH can have an anticipated normal life.

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.

O1 Regulation of genes by telomere length over long distances Jerry W. Shay O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Mohammed Al-Qahtani, Nobutaka Hirokawa O3 Integration of metagenomics and metabolomics in gut microbiome research Maryam Goudarzi, Albert J.

Impact of Implementing Cardiac CT in Evaluating Patients Suspected of Cardioembolic Stroke.

Background And Objectives: In practice, clinical and logistic hurdles may hamper performing transesophageal echocardiography in stroke patients. Cardiac computed tomography (CT) is a recently introduced noninvasive modality able to detect various embolic causes. Thus, we retrospectively assessed possible added values of applying cardiac CT in the real-world work-up of suspected cardioembolic stroke cases.