Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

The underlying genetic etiology of rhabdomyolysis remains elusive in a significant fraction of individuals presenting with recurrent metabolic crises and muscle weakness. Using exome sequencing, we identified bi-allelic mutations in TANGO2 encoding transport and Golgi organization 2 homolog (Drosophila) in 12 subjects with episodic rhabdomyolysis, hypoglycemia, hyperammonemia, and susceptibility to life-threatening cardiac tachyarrhythmias. A recurrent homozygous c.

Ventricular tachycardia from intracardiac hematoma in the setting of blunt thoracic trauma.

In the victims of motor vehicle accidents, unrecognized myocardial injuries may pose diagnostic and therapeutic challenges. Herein, we present a case of a 17-year-old man who developed multiple ventricular premature complexes and nonsustained ventricular tachycardia in the setting of blunt chest trauma from a motor vehicle accident. We discuss significance of the electrocardiographic abnormalities in making an accurate diagnosis of cardiac hematoma and its management.

Outcome of pulmonary vein isolation ablation for paroxysmal atrial fibrillation: predictive role of left atrial mechanical dyssynchrony by speckle tracking echocardiography.

Introduction: Although few clinical variables have been associated with recurrence of atrial fibrillation (AF) after pulmonary vein isolation (PVI) the role of left atrial (LA) mechanical function in the outcome of catheter ablation of AF is not adequately defined. The aim of our study was to determine whether LA mechanical dyssynchrony as evaluated by speckle tracking echocardiography can predict outcome of PVI ablation procedure in patients with paroxysmal AF.

Methods: Twenty-five patients (age 58 ± 11 years, [mean ± standard deviation], 17 males) with paroxysmal AF who met specific enrollment criteria pertaining to clinical presentation and follow-up, assessment of LA mechanical dyssynchrony, and strategy of catheter ablation procedure were enrolled.

Speech-induced atrial tachycardia: an unusual presentation of supraventricular tachycardia.

A 63-year-old male radio announcer was admitted with a narrow complex, long RP tachycardia. While in the awake state, the patient spoke in his radio voice, initiating and maintaining the tachycardia. Three-dimensional electroanatomic mapping during electrophysiology study localized the tachycardia to the ostium of the right superior pulmonary vein.

Malfunctions of implantable cardiac devices in patients receiving proton beam therapy: incidence and predictors.

Purpose: Photon therapy has been reported to induce resets of implanted cardiac devices, but the clinical sequelae of treating patients with such devices with proton beam therapy (PBT) are not well known. We reviewed the incidence of device malfunctions among patients undergoing PBT.

Methods And Materials: From March 2009 through July 2012, 42 patients with implanted cardiac implantable electronic devices (CIED; 28 pacemakers and 14 cardioverter-defibrillators) underwent 42 courses of PBT for thoracic (23, 55%), prostate (15, 36%), liver (3, 7%), or base of skull (1, 2%) tumors at a single institution.

Metastatic melanoma presenting as polymorphic ventricular tachycardia.

A 41-year-old woman with metastatic melanoma was admitted to the hospital because of syncopal episodes, which had developed after the administration of an experimental chemotherapy agent that targeted Notch signaling, as part of a phase I clinical trial. Cardiac monitoring revealed recurrent episodes of polymorphic ventricular tachycardia correlating with the patient's syncope. Investigations into the cause of the arrhythmia led to the discovery of metastatic lesions within the left ventricular myocardium.

Ventricular arrhythmias and acute left ventricular dysfunction as a primary and life-threatening manifestation of a mitochondrial crisis: A novel management strategy.

Mitochondrial disorders are genetic diseases that result in a deficiency of energy metabolism (ATP production). A "mitochondrial crisis" can occur in the setting of infection, dehydration, or physiologic stress. The hallmark of a mitochondrial crisis is failure of multiple individual organ systems.

Purulent pericarditis: report of 2 cases and review of the literature.

Purulent pericarditis, a localized infection within the pericardial space, has become a rare entity in the modern antibiotic era. Although historically a disease of children and young adults, this is no longer the case: the median age at the time of diagnosis has increased by nearly 30 years over the past 6 decades. Despite advances in diagnostic and treatment modalities, purulent pericarditis remains a life-threatening illness.

Characterization of left ventricular diastolic function in hypertension by use of Doppler tissue imaging and color M-mode techniques.

Background: Abnormalities in left ventricular (LV) relaxation and/or increased filling pressures are indicators of LV diastolic dysfunction in patients with hypertension (HTN). The purpose of this study was to assess clinical use of pulsed wave Doppler, Doppler tissue imaging (DTI), and color M-mode (CMM) indices for determination of diastolic function in patients with HTN.

Methods: In all, 278 ambulatory patients with normal LV systolic function were grouped according to the presence of HTN with and without LV hypertrophy (LVH) (determined by the 2-dimensional area-length method) as follows: healthy control subjects (NC, n = 122), HTN without LVH (HTN, n = 70), and HTN with LVH (HTN+LVH, n = 86).