Genetic Reassessment Reveals Catecholaminergic Polymorphic Ventricular Tachycardia in Sisters Initially Diagnosed With Long QT Syndrome.

Christine Zhang, Abdullah Sarkar, Eugene Wong, Marmar Vaseghi, Jessica J Wang

Abstract readCase Reports

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Article in JACC. Case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 authors.

Christine ZhangDepartment of Integrative Biology and Physiology, University of California-Los Angeles, Los Angeles, California, USA; Division of Cardiology, Department of Medicine, David Geffen School of Medicine at University of California-Los Angeles, Los Angeles, California, USA.

Abdullah SarkarDivision of Cardiology, Department of Medicine, David Geffen School of Medicine at University of California-Los Angeles, Los Angeles, California, USA.

Eugene WongDivision of Clinical Genetics, Department of Human Genetics, University of California-Los Angeles, Los Angeles, California, USA; Institute for Precision Health, University of California-Los Angeles, Los Angeles, California, USA.

Marmar VaseghiDivision of Cardiology, Department of Medicine, David Geffen School of Medicine at University of California-Los Angeles, Los Angeles, California, USA.

Jessica J WangDivision of Cardiology, Department of Medicine, David Geffen School of Medicine at University of California-Los Angeles, Los Angeles, California, USA. Electronic address: JessicaWang@mednet.ucla.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe QT interval is often prolonged in the immediate postcardiac arrest period, but not all patients with a prolonged QT interval have long QT syndrome (LQTS). CASE SUMMARY: A 29-year-old female was diagnosed with LQTS in childhood based on borderline QTc interval and a family history of a sister with presumed LQTS after cardiac arrest. Updated genetic testing in the proband revealed a likely pathogenic RYR2 variant and a benign KCNE1 variant. Familial testing confirmed that the patient carried the RYR2 variant, establishing a diagnosis of catecholaminergic polymorphic ventricular tachycardia. DISCUSSION: This case underscores the value of confirming the underlying molecular diagnosis in determining arrhythmic risk and guiding family evaluation. Broader or updated genetic testing can clarify disease mechanism, prevent misdirected management, and support targeted risk assessment in relatives. TAKE-HOME MESSAGES: The differential diagnosis of cardiac arrest is broad, including arrhythmia syndromes, arrhythmogenic cardiomyopathy, and nongenetic causes. Comprehensive genetic testing and counseling are essential for informing management of sudden cardiac arrest survivors and their relatives.

Indexed as

genetic disordersgeneticsventricular tachycardia

Identifiers

PMID42240257

DOI10.1016/j.jaccas.2026.108044

PMCPMC13244006

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