Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts.

Genome-wide association studies (GWAS) have yielded significant insights into the genetic architecture of myocardial infarction (MI), although studies in non-European populations are still lacking. Saudi Arabian cohorts offer an opportunity to discover novel genetic variants impacting disease risk due to a high rate of consanguinity. Genome-wide genotyping (GWG), imputation and GWAS followed by meta-analysis were performed based on two independent Saudi Arabian studies comprising 3950 MI patients and 2324 non-MI controls. Meta-analyses were then performed with these two Saudi MI studies and the CardioGRAMplusC4D and UK BioBank GWAS as controls. Meta-analyses of the two Saudi MI studies resulted in 17 SNPs with genome-wide significance. Meta-analyses of all 4 studies revealed 66 loci with genome-wide significance levels of p < 5 × 10-8. All of these variants, except rs2764203, have previously been reported as MI-associated loci or to have high linkage disequilibrium with known loci. One SNP association in Shisa family member 5 (SHISA5) (rs11707229) was evident at a much higher frequency in the Saudi MI populations (> 12% MAF). In conclusion, our results replicated many MI associations, whereas in Saudi-only GWAS (meta-analyses), several new loci were implicated that require future validation and functional analyses.

Absent Left Anterior Descending Coronary Artery as a Potential Cause of Ischemic Stroke: A Case Report.

BACKGROUND Embolic stroke of undetermined source (ESUS) represents 20-30% of ischemic strokes, with a high risk of recurrence. It usually requires an extensive diagnostic evaluation to address the potential etiologies. Coronary artery anomaly (CAA) of the left anterior descending artery (LAD) is uncommon, and it is known to be linked to myocardial complications. The association of this anomaly with ischemic strokes has not been reported yet. Here, we report on a rare case of a young patient with hypoplastic LAD complicated by an impaired ventricular function that resulted in left ventricular (LV) thrombus formation as a source of recurrent ischemic strokes. CASE REPORT A 36-year-old man had a 4-year history of recurrent strokes despite maintaining antiplatelet treatment. He had no pre-existing vascular risk factors or relevant family history. The initial stroke etiology work-up was inconclusive. A transesophageal echocardiogram showed moderate ventricular hypokinesia. A coronary angiogram was initiated, and a hypoplastic (LAD) artery anomaly was found. At first, the antiplatelet therapy was maintained. Later on, he presented with transient focal neurological symptoms indicative of a transient ischemic attack. Repeated echocardiograms detected left ventricular thrombus. Apixaban was started, with successful thrombus resolution in a one-month follow-up echocardiogram. He has not had a further recurrent ischemic event for 18 months. CONCLUSIONS This case suggests that CAAs might be considered as an associated etiology of ESUS in a young patient with recurrent cerebral events. In a clinical setting, we encourage early use of advanced cerebral and cardiac imaging modalities to accurately determine the stroke etiology, target the appropriate treatment, and prevent a further neurological sequel.

Leiomyoadenomatoid tumors: A type of rare benign epididymal tumor.

Primary tumors of the epididymis are mostly benign in nature, and the most common type is adenomatoid tumors followed by leiomyomas. Leiomyoadenomatoid tumors are very rare benign epididymal neoplasms composed of two components: gland-like structures lined by cuboidal cells and bundles of smooth muscle components. The goal of treatment is testicular-preserving surgery. A preoperative and intraoperative evaluation plays an important role in proper management. To the best of our knowledge, few cases have been reported in the literature. We report a case of a right epididymal tail leiomyoadenomatoid tumor in a 49-year-old male who underwent trans-scrotal exploration and tumor excision.

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. The current study compared in-hospital and follow-up events in patients with SCAD with and without reported stress. Data from 83 patients with a confirmed diagnosis of SCAD were collected retrospectively from 30 centers in 4 Arab Gulf countries (KSA, UAE, Kuwait, and Bahrain) from January 2011 to December 2017. In-hospital myocardial infarction (MI), percutaneous coronary intervention (PCI), ventricular tachycardia/ventricular fibrillation, cardiogenic shock, death, ICD placement, dissection extension) and follow-up (MI, de novo SCAD, death, spontaneous superior mesenteric artery dissection) events were compared between those with and without reported stress. Emotional and physical stress was defined as new or unusually intense stress, within 1 week of their initial hospitalization. The median age of patients in the study was 44 (37-55) years. Foty-two (51%) were women. Stress (emotional, physical, and combined) was reported in 49 (59%) of all patients. Sixty-two percent of women with SCAD reported stress, and 51 % of men with SCAD reported stress. Men more commonly reported physical and combined stress. Women more commonly reported emotional stress (P < 0.001). The presence or absence of reported stress did not impact on overall adverse cardiovascular events (P = 0.8). In-hospital and follow-up events were comparable in patients with SCAD in the presence or absence of reported stress as a trigger.

Investigation of KIF6 Trp719Arg gene polymorphism in a case-control study of coronary artery disease and non-fatal myocardial infarction in the Eastern Province of Saudi Arabia.

BACKGROUND: Kinesin-like protein 6 (KIF6), a member of the kinesin superfamily, is involved in intracellular transport. A few prospective studies have shown the KIF6 variant Trp719Arg (rs20455) to be associated with coronary artery disease (CAD) in Caucasian populations. However, recent genome-wide association studies on CAD have not proven these associations. OBJECTIVES: Since the role of KIF6 719Arg allele in other ethnic populations is largely unknown, we sought to determine whether the KIF6 719Arg allele is associated with CAD in an ethnic Middle Eastern population. DESIGN: Case-control study. SETTING: CAD patients and control subjects from King Fahd Hospital of the University, Al-Khobar, Saudi Arabia. PATIENTS AND METHODS: The study population included angiographically defined CAD patients (n=1002) and controls (n=984) with a normal electrocardiogram. MAIN OUTCOME MEASURE(S): Association of KIF6 Trp719Arg mutation with CAD. RESULTS: The KIF6 Trp719Arg polymorphism was not associated with CAD (OR 0.976, 95% CI 0.861-1.105; P=.704). In addition, KIF6 Trp719Arg polymorphism showed a lack of association even in stratified myocardial infarction patients (n=802) (OR 1.006, 95% CI 0.881-1.148; P=.929) in comparison to controls. CONCLUSIONS: The absence of Trp719Arg polymorphism association with CAD and CAD in stratified myocardial infarction cases indicates that the polymorphism is not associated with an increased risk among CAD patients from the Eastern Province of Saudi Arabia. LIMITATIONS: Unavailability of data on statin usage among the patient population.

The impact of common polymorphisms in CETP and ABCA1 genes with the risk of coronary artery disease in Saudi Arabians.

BACKGROUND: Coronary artery disease (CAD) is a leading cause of morbidity and mortality worldwide. Many genetic and environmental risk factors including atherogenic dyslipidemia contribute towards the development of CAD. Functionally relevant mutations in the dyslipidemia-related genes and enzymes involved in the reverse cholesterol transport system are associated with CAD and contribute to increased susceptibility of myocardial infarction (MI). METHOD: Blood samples from 990 angiographically confirmed Saudi CAD patients with at least one event of myocardial infarction were collected between 2012 and 2014. A total of 618 Saudi controls with no history or family history of CAD participated in the study. Four polymorphisms, rs2230806, rs2066715 (ABCA1), rs5882, and rs708272 (CETP), were genotyped using TaqMan Assay. RESULTS: CETP rs5882 (OR = 1.45, P < 0.005) and ABCA1 rs2230806 (OR = 1.42, P = 0.017) polymorphisms were associated with increased risk of CAD. However, rs708272 polymorphism showed protective effect (B1 vs. B2: OR = 0.80, P = 0.003 and B2B2 vs. B1B1: OR = 0.68, P = 0.012) while the ABCA1 variant rs2066715 was not associated. CONCLUSION: This study is the first to report the association of these polymorphisms with CAD in the population of the Eastern Province of Saudi Arabia. The rs5882 polymorphism (CETP) showed a significant association and therefore could be a promising marker for CAD risk estimation while the rs708272 polymorphism had a protective effect from CAD.

Coronary artery ectasia - A sample from Saudi Arabia.

INTRODUCTION: Coronary artery ectasia is an uncommon disease that has been increasingly noticed as the increase in utilization of coronary angiograms. The aim of this study is to characterize coronary artery ectasia in the population of Saudi Arabia. METHODS: This is a retrospective study involved all patient with invasive coronary angiogram that was done at a tertiary hospital in Saudi Arabia from January 2011 to December 2013. RESULTS: A total of 1115 coronary angiograms were reviewed. Coronary artery ectasia was found in 67 patients (6% of all coronary angiograms). The right coronary artery was involved in 73% of cases. And 43% of the cases had severe ectasia. CONCLUSION: The prevalence of coronary artery ectasia in Saudi Arabia among patient who went for coronary angiography is higher than what has been published in previous studies and a significant number of patients have severe disease.

Comparison between intra-venous versus intra-arterial heparin during transradial coronary artery catheterization.

BACKGROUND: Trans-radial coronary artery catheterization is gaining popularity, heparin has been proven to reduce the rate of radial artery occlusion, intra-venous or intra-arterial heparin have no effect on the radial artery occlusion, we investigate the effect of route of heparin administration on different procedure related parameters. METHODS: We randomized 150 consecutive patients to receive intra-venous (75 patients) or intra-arterial (75 patients) heparin; the two groups were compared regarding different procedure related parameters. RESULTS: The success rate was over 99% and rate of radial artery spasm was about 5%. There was no statistically significant difference between the two groups regarding the parameters tested. CONCLUSION: The trans-radial angiography can be performed successfully in the Saudi population, Studies with larger sample size are needed to show a significant difference between intra-arterial and intra-venous heparin administration.

Giant coronary artery fistula.

Giant coronary artery fistula is rare. We describe the diagnostic work-up and surgical management of a 55-year-old woman who presented with congestive heart failure caused by a giant coronary artery fistula from the left circumflex artery to the coronary sinus.

Congenitally absent right coronary artery.

Congenitally absent right coronary artery is an extremely rare anomaly. We present the case of a young male who was incidentally found to have no right coronary artery.

Electrocardiographic identification of the culprit coronary artery in inferior wall ST elevation myocardial infarction.

BACKGROUND: Electrocardiograms (ECGs) are essential in identifying the type and location of acute myocardial infarction. In the setting of inferior wall myocardial infarction (IWMI), identification of the right coronary artery (RCA) as the culprit artery is important because of the potential complications associated with its involvement. OBJECTIVES: To evaluate previous ECG criteria used for the identification of RCA involvement and validate them in the Assessment of the Safety and Efficacy of a New Treatment Strategy with Percutaneous Coronary Intervention (ASSENT 4 PCI) cohort; and to develop an improved simplified score to identify RCA involvement. METHODS: ASSENT 4 PCI patients with IWMI (n=710) were included in the present study. A literature review was conducted to identify previously published criteria to detect RCA involvement. Logistic regression was used to develop a new simplified algorithm for identifying RCA involvement. RESULTS: The sensitivities and specificities of six previous ECG criteria were substantially lower when applied to the ASSENT 4 PCI population. A new algorithm found that ST segment depression in leads I, aVL and V6, and ST segment elevation of greater than 1 mm in lead aVF was associated with a higher likelihood of RCA involvement, and any ST segment depression in V1 and V3 was associated with a lower likelihood of RCA involvement. A simplified risk score found a prevalence of RCA involvement of over 90% among patients with scores of greater than two. CONCLUSIONS: The ECG is useful in identifying RCA involvement in IWMI before angiography. Previously published criteria appear to be inadequate, and the simple algorithm presented in the current study may be a useful tool in identifying RCA involvement at the bedside.

Plasmapheresis for hemolytic crisis and impending acute liver failure in Wilson disease.

Wilsonian crisis is fatal unless copper removal is initiated early and liver transplantation is performed for patients that fulfill criteria for a poor outcome. We report a patient presenting with severe hemolysis and impending acute liver failure that made a rapid recovery with prompt initiation of plasmapheresis and chelation therapy. Rapid copper removal by plasmapheresis alleviated hemolysis and liver injury. A review of the literature was performed examining the use of plasmapheresis and albumin dialysis with continuous veno-venous hemodialysis or molecular adsorbents and recirculating system.

Cerebral arrhythmia influencing cardiac rhythm: a case of ictal bradycardia.

Partial seizures of temporal origin can be associated with clinically significant tachycardia or bradycardia. Ictal bradycardia and asystole has been implicated in the etiology of sudden unexpected death in epileptic patients (SUDEP). Although symptomatic ictal bradycardia has been relatively well described in the literature; information on asymptomatic ictal bradycardia is scarce. We report a case of asymptomatic ictal bradycardia diagnosed during video EEG telemetry that was subsequently implanted with a cardiac pacemaker.