Pathogenic BCS1L Mutation Resulting in Hypertrophic Cardiomyopathy: A Unique Presentation of Nuclear Mitochondrial Disease.

A 21-year-old man with sensorineural hearing loss and glaucoma presented with severely limited exercise capacity since childhood. He was found to have biventricular concentric hypertrophy with greatest wall thickening at the posterior and lateral walls of the left ventricle apex (1.7 cm) and the free wall of the right ventricle (1.

Predictors and outcome of electrical storm-induced cardiogenic shock.

Aim: Limited information is available about the short- and long-term outcomes in electrical storm (ES)-induced cardiogenic shock (CS) and its predictors.

Methods And Results: This is a retrospective, single-centre cohort study of consecutive patients with ES admitted to the Cardiac Intensive Care Unit between 2015 and 2020. The proportion of ES patients who developed CS was adjudicated, and clinical predictors of in-hospital ventricular arrhythmia (VA)-related mortality and 1-year all-cause mortality were investigated.

Fifth generation troponin T assay is subject to antibody interference.

Background: The fifth generation (high-sensitivity) troponin T assay offers increased precision and analytical sensitivity to the predecessor method. The assay has proven utility in risk stratification and patient management. Upon clinical suspicion and discordant 4th generation troponin T and troponin I results, we investigated a sample for suspected interfering substances to the 5th generation troponin T assay.

Definitions of Stage D heart failure and outcomes among outpatients with heart failure and reduced ejection fraction.

Background: An operational consensus definition of Stage D heart failure (HF) is currently lacking.

Methods: We evaluated 512 outpatients (median age, 63 years; 35.0% women; 45.

Arrhythmogenic Right Ventricular Cardiomyopathy in an Endurance Athlete Presenting with Ventricular Tachycardia and Normal Right Ventricular Function.

Arrhythmogenic right ventricular cardiomyopathy, a genetically inherited disease that results in fibrofatty replacement of normal cardiac myocytes, has been associated with sudden cardiac death in athletes. Long-term participation in endurance exercise hastens the development of both the arrhythmic and structural arrhythmogenic right ventricular cardiomyopathy phenotypes. We describe the unusual case of a 34-year-old, symptomatic, female endurance athlete who had arrhythmogenic right ventricular cardiomyopathy in the presence of a structurally normal right ventricle.

Progression to Stage D Heart Failure Among Outpatients With Stage C Heart Failure and Reduced Ejection Fraction.

Objectives: This study sought to estimate the rate of progression to Stage D heart failure (HF) among outpatients with Stage C HF and to identify risk factors for progression.

Background: The pool of patients who may be candidates for advanced HF therapies is growing.

Methods: We estimated 3-year progression to clinically determined Stage D HF and competing mortality among 964 outpatients with Stage C heart failure with reduced ejection fraction (HFrEF), where ejection fraction is ≤40%.

Pheochromocytoma Masquerading as "Diabetic Ketoacidosis".

Diabetic ketoacidosis is a routinely encountered diagnosis in medicine. Physicians are trained early on to look for precipitants. Most clinicians assess for medication compliance, infection, ischemia, and the like.