Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa.

Homozygous familial hypercholesterolaemia (HoFH) is a severe form of FH in which inheritance of two defective or null mutations in genes associated with metabolism of low-density lipoprotein cholesterol (LDL-C) results in extremely high LDL-C, premature atherosclerotic cardiovascular disease (ASCVD) and mortality. Treatment of HoFH comprises a multi-modal approach of statins, ezetimibe, lipoprotein apheresis; and inhibitors of proprotein convertase subtilisin/kexin type, angiopoietin-like protein 3 (ANGPTL3) and microsomal triglyceride transfer protein. These treatments are generally costly, and patients also often require treatment for ASCVD consequent to HoFH. Therefore, in the interests of both economics and preservation of life, disease prevention via genetic screening and counselling is rapidly becoming a key element in the overall management of HoFH. Guidelines are available to assist diagnosis and treatment of HoFH; however, while advancements have been made in the management of the disease, there has been little systematic attention paid to prevention. Additionally, the Middle East/North Africa (MENA) region has a higher prevalence of HoFH than most other regions - chiefly due to consanguinity. This has led to the establishment of regional lipid clinics and awareness programs that have thrown education and awareness of HoFH into sharp focus. Incorporation of principles of prevention, education, awareness, and data from real-world use of existing therapeutics will significantly enhance the effectiveness of future guidelines for the management of HoFH, particularly in the MENA region.

Role of three-dimensional transesophageal echocardiography in cardiac myxomas: an imaging challenge.

Nowadays, the diagnosis of cardiac myxomas (CM), particularly the histological types, remains a challenge. Two-dimensional (2D) transthoracic (TT) and transesophageal (TEE)  echocardiography (ECHO) represent the first steps in the imaging pathway. 3D ECHO,  implemented in imaging practice, appears to be an emerging diagnostic technique that overcomes some of the limitations of 2D ECHO while integrating the information provided by magnetic resonance (MRI). However, its role in the imaging arena is still debatable. Analyzing 17 myxomas in 13 patients, the study uncovers a diverse anatomical spectrum. Classical CM morphology is a minority, with most myxomas being sessile and originating from unexpected locations (right ventricular outflow tract and left atrial appendage). Texture and size variations are also noted. Comparing imaging, 2D TEE outperforms 2D TT in visualizing anatomical features, especially attachment types. 3D TEE confirms 2D TT findings and offers more detailed assessments, identifying peduncles missed in four cases by 2D TEE. Two small recurrent myxomas were exclusively detected by 3D TEE, not by 2D TEE or MRI. Two patients have papillary myxomas, one has an embolism. Another patient with a solid myxoma also suffers an embolism, with a clot found at the apex during surgery. Our study showed that CM has a wide anatomical spectrum beyond the typical features, making the diagnosis challenging. Therefore, a multimodality imaging approach is essential for distinguishing CM from other cardiac masses and differentiating myxoma histological types. These findings stress the importance of incorporating 3D ECHO alongside other imaging techniques for a comprehensive evaluation.

Management and clinical outcomes of patients with homozygous familial hypercholesteremia in Saudi Arabia.

We report the incidence, patient characteristic with clinical outcomes in patients with homozygous familial hypercholesterolemia (HoFH) in Saudi Arabia. This is a retrospective and prospective, single center study which included 37 patients 14 years and older enrolled and followed up between 2018-2021 for three years. 46% were females, 78% were offspring of consanguineous marriage. LDLR mutation was in 78% and LDL-C/LDLRAP in 3% of patients. Mean LDL-C at the first presentation was 14.2±3.7 mmol/L, average Dutch lipid score was 20.9±6.24. LDL apheresis was performed on 70% of patients. Most patients were on ezetimibe (92%), high-dose statins ( 84%) and  PCSK9 inhibitors (32%). 48.6% had aortic stenosis, out of which 30% had severe aortic stenosis. Ten underwent aortic valve surgery (5 mechanical valve, 3 Ross procedure, 1 aortic valve repair, 1 bioprosthetic valve) and one had transcatheter aortic valve implantation (TAVI). Coronary artery bypass surgery (CABG) was performed on 32% and percutaneous intervention (PCI) on 11% of patients. HoFH patients have complex diseases with high morbidity and mortality, and benefit from a highly specialized multidisciplinary clinic to address their clinical needs. Although there are several therapeutic agents on the horizon, early diagnosis, and treatment of HoFH remain critical to optimize patient outcomes.

Postcardiosurgical Pseudoaneurysm.

Takayasu's arteritis is an autoimmune inflammatory disease of large arteries. We report a case of postcardiac surgery pseudoaneurysm. Anesthetic concerns, high risk related to surgery, necessary anesthetic preparations, and considerations will be mentioned here.

A Case of Status Epilepticus and Transient Stress Cardiomyopathy Associated with Smoking the Synthetic Psychoactive Cannabinoid, UR-144.

BACKGROUND Synthetic cannabinoids have a higher affinity for the cannabinoid receptors CB1 and CB2 than natural cannabinoids. Their use can be associated with cardiovascular disease and neurological complications. A case is reported of status epilepticus and stress cardiomyopathy following the recreational use of the synthetic cannabinoid, UR-144. CASE REPORT A 19-year-old woman presented to the emergency department in status epilepticus after smoking the synthetic cannabinoid known as 'space'. Recurring seizure activity was controlled after three hours. On hospital day 3, the patient developed severe biventricular failure. Cardiac magnetic resonance imaging (MRI) confirmed the diagnosis of stress cardiomyopathy. A comprehensive urine drug screen was performed using gas chromatography-mass spectrometry (GC-MS), which was positive for UR-144, or (1-pentyl-1H-indol-3-yl)(2,2,3,3-tetramethylcyclopropyl)-methanone, and negative for all other illicit recreational drugs. The patient improved at one week following admission, with a left ventricular ejection fraction (LVEF) of 40%. She was discharged home on hospital day 10. CONCLUSIONS The use of the synthetic cannabinoid, UR-144, may be associated with prolonged status epilepticus and stress cardiomyopathy. Physicians should be aware of these potentially lethal complications associated with the recreational use of this and other illicit synthetic cannabinoids.

Spindle cell sarcoma of the left atrium: an extremely rare and challenging tumour often masquerading as left atrial myxoma.

Spindle-cell sarcoma of the left atrium is an extremely rare diagnosis, with only 4 cases reported in the literature worldwide. We report on a 42-year-old man, who presented to the emergency department with dyspnea and decreased exercise tolerance. A computed tomography chest scan showed a large mass in the left atrium. Echocardiography demonstrated a significant gradient across the mitral valve. The patient had the mass excised in the operating room. He did well postoperatively. Eight months later, a repeat cardiac magnetic resonance imaging scan showed a recurrence. Right pneumonectomy was performed to ensure margins were clear. Although he has done well after surgery, his prognosis remains guarded.