Radionuclide angiography phase analysis was performed in two patients presenting with recurrent right-sided ventricular tachycardia without angiographic evidence of valvular or ischemic heart disease. A dilated, poorly contracting (EF = 20%) right ventricle with localized dyskinetic areas was found in contrast with normal left ventricular function. The suggested diagnosis of Arrhythmogenic Right Ventricular Dysplasia was confirmed by right ventricular angiography performed in one patient. The diagnostic interest of radionuclide angiography phase analysis in patients with Arrhythmogenic Right Ventricular Dysplasia is stressed.
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Introduction This case report illustrates the complexities of arrhythmogenic right ventricular cardiomyopathy (ARVC) and its thromboembolic complications resulting in top-of-basilar artery syndrome. We discuss the case of a 37-year-old male with ARVC who presented with acute onset of dizziness, imbalance, and vomiting, leading to the diagnosis of a top-of-basilar artery occlusion which was successfully treated. Case presentation This case highlights the diagnostic and acute treatment challenges in basilar artery occlusion (BAO) due to its non-specific symptoms and emphasizes the critical role of CT angiography in detecting occlusive thrombi for timely intervention.
View Article and Find Full Text PDFKorean Circ J
December 2024
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Background And Objectives: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a life-threatening inherited arrhythmogenic disorder. Recently, , the major CPVT-causative gene, was associated with neuropsychiatric manifestations. We aimed to analyze the clinical presentations, neuropsychiatric manifestations, and treatment outcomes of children with CPVT.
View Article and Find Full Text PDFPacing Clin Electrophysiol
December 2024
Department of Cardiology, Dr. Siyami Ersek Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey.
This case report presents the management of tachycardiomyopathy (TCM) in a patient with Friedreich ataxia, a hereditary disorder characterized by progressive neurodegeneration and associated cardiac complications. The patient exhibited severe tachycardia-induced cardiac dysfunction, complicating the clinical picture due to the overlapping neurological symptoms of Friedreich ataxia. Utilizing a 3D mapping system, catheter ablation was performed to accurately identify and target the arrhythmogenic foci contributing to the patient's TCM.
View Article and Find Full Text PDFHum Genome Var
December 2024
Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, Osaka, 565-0871, Japan.
DSG2, encoding desmoglein-2, is one of the causative genes of arrhythmogenic cardiomyopathy. We previously identified a homozygous DSG2 p.Arg119Ter stop-gain variant in a patient with juvenile-onset cardiomyopathy and advanced biventricular heart failure.
View Article and Find Full Text PDFBackground: The utility of diagnostic genetic testing in cardiomyopathy has grown significantly, due to the discovery of novel genes and greater awareness among healthcare professionals. However, a substantial proportion of cases (around 50%) yield no causative genetic variants or have variants of unknown significance (VUS), limiting their use in clinical management and familial screening. The increase in data quantity and quality in reference databases, coupled with variant interpretation guidelines, allows for periodic reanalysis of VUS, potentially reducing diagnostic gaps.
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