Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is suspected by clinical characteristics involving fatal arrhythmic events in childhood and adolescence. On the other hand, genetic testing is also important because the mutation site in the specific genes of CPVT is related to the risk of ventricular arrhythmias and gene penetrance.
Case Summary: We present a case of a 15-year-old male with a familial history of CPVT and a history of syncope at the age of 5. He experienced a cardiac arrest prompting out-of-hospital cardiopulmonary resuscitation, and his circulatory dynamics recovered. Multiple premature ventricular contractions inducted by a treadmill exercise test disappeared after a dosage of verapamil, flecainide, and nadolol, and a subcutaneous implantable cardioverter defibrillator was implanted. The novel pathogenic mutation with an insertion of histidine near the C-terminus of the RYR2 protein was identified by genetic testing in this case and his mother.
Discussion: The RYR2 mutation in this case has not been previously reported and may be an intractable phenotype of CPVT associated with a strong familial history and fatal cardiac events even under adequate medical therapy.
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http://dx.doi.org/10.1093/ehjcr/ytae652 | DOI Listing |
JACC Clin Electrophysiol
November 2024
Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota, USA; Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), Mayo Clinic, Rochester, Minnesota, USA; Department of Cardiovascular Medicine (Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic), Mayo Clinic, Rochester, Minnesota, USA. Electronic address:
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare, potentially life-threatening genetic heart disease. Nonselective beta-blockers (BBs) are highly effective in reducing CPVT-triggered arrhythmic events. However, some patients suffer from unacceptable BB side effects and might require strategies without a BB.
View Article and Find Full Text PDFJ Mol Cell Cardiol Plus
December 2024
Key Laboratory of Medical Electrophysiology of the Ministry of Education, Medical Electrophysiological Key Laboratory of Sichuan Province, Institute of Cardiovascular Research, Southwest Medical University, Luzhou, Sichuan 646000, China.
Unlabelled: Abnormal regional variations in electrical and calcium homeostasis properties have been implicated in catecholaminergic polymorphic ventricular tachycardias (CPVT) attributable to abnormal RyR2-mediated store Ca release, but their underlying mechanism have not been well explored in intact hearts.
Methods: We performed in vivo and ex vivo studies including high throughput mapping of Ca transients (CaT) and transmembrane voltage (V) in murine wild-type (WT) and heterozygous -R2474S/+ hearts, before and during isoprenaline (ISO) challenge.
Results: ISO-challenged -R2474S/+ showed increased incidence of arrhythmia accompanied by abnormal Ca transients compared to WT.
J Mol Cell Cardiol Plus
December 2024
Department of Biological Sciences, Mississippi State University, Starkville, MS 39762, USA.
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic arrhythmic syndrome caused by mutations in the calcium (Ca) release channel ryanodine receptor (RyR2) and its accessory proteins. These mutations make the channel leaky, resulting in Ca-dependent arrhythmias. Besides arrhythmias, CPVT hearts typically lack structural cardiac remodeling, a characteristic often observed in other cardiac conditions (heart failure, prediabetes) also marked by RyR2 leak.
View Article and Find Full Text PDFEur Heart J Case Rep
December 2024
Division of Cardiology, Department of Medicine, Nihon University School of Medicine, 30-1 Ohyaguchi-kamicho, Itabashi-ku, Tokyo, 173-8610, Japan.
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is suspected by clinical characteristics involving fatal arrhythmic events in childhood and adolescence. On the other hand, genetic testing is also important because the mutation site in the specific genes of CPVT is related to the risk of ventricular arrhythmias and gene penetrance.
Case Summary: We present a case of a 15-year-old male with a familial history of CPVT and a history of syncope at the age of 5.
Calmodulinopathies are caused by mutations in calmodulin (CaM), and result in debilitating cardiac arrythmias such as long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). In addition, many patients exhibit neurological comorbidities, including developmental delay and autism spectrum disorder. Until now, most work into these mutations has focused on cardiac effects, identifying impairment of Ca /CaM-dependent inactivation (CDI) of Ca 1.
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