ABSTRACT
Sudden cardiac death (SCD) is one of the leading causes of death worldwide, usually involving young people. SCD remains a critical public health problem accounting for 185,000-450,000 deaths annually, representing around 7%-18% of all deaths globally. As per evidence, â¼2%-54% of sudden unexpected deaths in people under the age of 35 years fail to show evidence of structural cardiac abnormalities at autopsy, making ion channelopathies the probable causes in such cases. The most generally recognized cardiac ion channelopathies with genetic testing are long QT syndrome (LQTS), Brugada syndrome (BrS), short QT syndrome (SQTS), and catecholaminergic polymorphic ventricular tachycardia (CPVT). The substantial progress in understanding the genetics of ion channelopathies in the last 2 decades has obliged the early diagnosis and prevention of SCD to a certain extent. In this review, we analyze the critical challenges and recent advancements in the identification, risk stratification, and clinical management of potentially fatal cardiac ion channel disorders. We also emphasize the application of precision medicine (PM) and artificial intelligence (AI) for comprehending the underlying genetic mechanisms, especially the role of human induced pluripotent stem cell (iPSC) based platforms to unravel the primary refractory clinical problems associated with channelopathies.
Subject(s)
Channelopathies , Heart Diseases , Induced Pluripotent Stem Cells , Long QT Syndrome , Humans , Adolescent , Adult , Channelopathies/genetics , Channelopathies/therapy , Channelopathies/complications , Precision Medicine , Artificial Intelligence , Arrhythmias, Cardiac/genetics , Arrhythmias, Cardiac/therapy , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/prevention & control , Long QT Syndrome/diagnosis , Long QT Syndrome/genetics , Long QT Syndrome/therapyABSTRACT
Provide a brief summary of your article (100-150 words; no references or figures/tables). The synopsis appears only in the table of contents and is often used by indexing services such as PubMed. Genetic arrhythmia syndromes are rare, yet harbor the potential for highly consequential, often unpredictable arrhythmias or sudden death events. There has been historical uncertainty regarding the correct advice to offer to affected patients who are reasonably wanting to participate in sporting and athletic endeavors. In some cases, this had led to abundantly cautious disqualifications, depriving individuals from participation unnecessarily. Societal guidance and expert opinion has evolved significantly over the last decade or 2, along with our understanding of the genetics and natural history of these conditions, and the emphasis has switched toward shared decision making with respect to the decision to participate or not, with patients and families becoming better informed, and willing participants in the decision making process. This review aims to give a brief update of the salient issues for the busy physician concerning these syndromes and to provide a framework for approaching their management in the otherwise aspirational or keen sports participant.
Subject(s)
Arrhythmias, Cardiac , Sports , Arrhythmias, Cardiac/genetics , Arrhythmias, Cardiac/therapy , Death, Sudden, Cardiac/prevention & control , Exercise , Humans , SyndromeABSTRACT
Coronary subclavian steal syndrome (CSSS) is a complication incurred after coronary artery bypass grafting (CABG), characterized by retrograde blood flow through the left internal mammary artery (LIMA) graft to the left subclavian artery (SCA) distal to a SCA stenosis, thereby compromising myocardial perfusion from the LIMA despite its patency. We present a 40-year-old female with a history of triple-vessel CABG who presented with crescendo angina, notably when elevating her arms above her head. Atypical angina related to arm activity following successful LIMA bypass should prompt angiography directed to the left SCA, as well as to the LIMA graft. Typically, cases of CSSS are claudication dependent and not positionally related. This suggests a two-pronged pathophysiological mechanism of both demand ischemia and mechanical obstruction, which is not well described in previous literature.
Subject(s)
Coronary-Subclavian Steal Syndrome , Mammary Arteries , Subclavian Steal Syndrome , Adult , Angina Pectoris , Coronary Artery Bypass , Coronary-Subclavian Steal Syndrome/complications , Coronary-Subclavian Steal Syndrome/diagnosis , Female , Humans , Mammary Arteries/diagnostic imaging , Subclavian Steal Syndrome/diagnostic imaging , Subclavian Steal Syndrome/etiologyABSTRACT
Dysphagia lusoria is difficulty swallowing as a result of extrinsic esophageal compression by an aberrant right subclavian artery (ARSA). We present the case of a 59-year-old patient with ARSA and history of chronic dysphagia. Vascular decompressive surgery was performed, but it failed to resolve his symptoms. Esophageal manometry indicated concomitant esophageal gastric junction outflow obstruction in the setting of a small hiatal hernia. Our case highlights the diagnostic dilemma surrounding dysphagia lusoria and identification of cases that should undergo surgical repair. Based on a thorough review of the literature and our case, we propose a complete foregut workup for possible other causes as potential etiologies of dysphagia prior to surgical treatment of dysphagia lusoria.
