Oliver P. Hanington MRCP, Catherine Armstrong MRCPCH, Germaine Pierre MRCPCH, Graham Stuart FRCP, Jules C. Hancox DSc, FRSB, FBPhS
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Abstract
We report the case of a 13-year-old female patient presenting with presyncope and palpitations. Her electrocardiogram revealed an abbreviation of the rate-corrected QT interval with imaging showing significant left ventricular dysfunction. Carnitine levels were measured as part of her diagnostic workup, discovering a rare, reversible cause of short QT syndrome (SQTS) and associated cardiomyopathy—primary carnitine deficiency (PCD) caused by a homozygous mutation in the SLC22A5 gene, leading to an in-frame deletion mutation (NP_003051.1:p.Phe23del) affecting the organic cation transporter 2 (OCTN2) protein. Following the treatment with oral carnitine supplementation, her QT interval returned to within the normal range with significant improvement in left ventricular function.
期刊介绍：
The ANNALS OF NONINVASIVE ELECTROCARDIOLOGY (A.N.E) is an online only journal that incorporates ongoing advances in the clinical application and technology of traditional and new ECG-based techniques in the diagnosis and treatment of cardiac patients.
ANE is the first journal in an evolving subspecialty that incorporates ongoing advances in the clinical application and technology of traditional and new ECG-based techniques in the diagnosis and treatment of cardiac patients. The publication includes topics related to 12-lead, exercise and high-resolution electrocardiography, arrhythmias, ischemia, repolarization phenomena, heart rate variability, circadian rhythms, bioengineering technology, signal-averaged ECGs, T-wave alternans and automatic external defibrillation.
ANE publishes peer-reviewed articles of interest to clinicians and researchers in the field of noninvasive electrocardiology. Original research, clinical studies, state-of-the-art reviews, case reports, technical notes, and letters to the editors will be published to meet future demands in this field.
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