Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe hereditary arrhythmia syndrome predominantly affecting children and young adults. It manifests through bidirectional or polymorphic ventricular arrhythmia, often culminating in syncope triggered by physical exertion or emotional stress which can lead to sudden cardiac death. Most cases stem from mutations in the gene responsible for encoding the cardiac ryanodine receptor (RyR2), or in the Calsequestrin 2 gene (CASQ2), disrupting the handling of calcium ions within the cardiac myocyte sarcoplasmic reticulum. Diagnosing CPVT typically involves unmasking the arrhythmia through exercise stress testing. This diagnosis emerges in the absence of structural heart disease by cardiac imaging and with a normal baseline electrocardiogram. Traditional first-line treatment primarily involves β-blocker therapy, significantly reducing CPVT-associated mortality. Adjunctive therapies such as moderate exercise training, flecainide, left cardiac sympathetic denervation and implantable cardioverter-defibrillators have been utilized with reasonable success. However, the spectrum of options for managing CPVT has expanded over time, demonstrating decreased rates of arrhythmic events. Furthermore, ongoing research into potential new therapies including gene therapies has the potential to further enhance treatment paradigms. This review aims to succinctly encapsulate the contemporary understanding of the clinical characteristics, diagnostic approach, established therapeutic interventions and the promising future directions in managing CPVT.
Thromboembolism-in-transit, specifically impending paradoxical embolism (IPDE), is a rare and life-threatening condition with limited reported cases. We present a case of a 51-year-old male with obstructive sleep apnea, initially diagnosed with deep vein thrombosis and pulmonary embolism. Further evaluation revealed a saddle pulmonary embolus extending into the right atrium, straddling a patent foramen ovale (PFO), confirmed by transesophageal echocardiogram. Despite a critical left anterior descending coronary artery stenosis, surgical thrombectomy, PFO closure, and coronary artery bypass grafting were successfully performed. Thromboembolism-in-transit poses diagnostic challenges, and there is a lack of consensus on the optimal treatment strategy. Surgical interventions, including embolectomy and PFO closure, have shown promise, while thrombolytic therapy remains controversial. This case underscores the importance of tailored management in the absence of standardized guidelines, emphasizing the need for further research to establish evidence-based protocols for this uncommon but potentially fatal condition.
Brucellosis, a zoonotic infection typically presenting with nonspecific symptoms, rarely leads to cardiac complications, particularly conduction abnormalities. We report a unique case of an 84-year-old female who presented with dizziness, bradycardia, and hypotension, ultimately diagnosed with complete heart block. On admission, blood cultures and further diagnostic workup identified Brucella bacteremia as the underlying cause, with further history revealing that she had recently traveled from a farm in Colombia, a brucellosis-endemic area. The patient underwent dual-chamber pacemaker implantation to stabilize her heart rhythm and was initiated on a three-month antibiotic regimen of doxycycline and rifampin. This case highlights the importance of considering brucellosis as a differential diagnosis for heart block in patients with recent travel from endemic regions. Early recognition and intervention, including antibiotic therapy and pacemaker placement when necessary, are essential for achieving favorable outcomes in brucellosis-related cardiac complications.