Intellectual and Neurodevelopmental Delays in Pediatric Catecholaminergic Polymorphic Ventricular Tachycardia: Distinct Characteristics and a More Malignant Neurocardiac Phenotype
This study demonstrates a wider spectrum of <i>RYR2</i>-related disease, with a subset associated with extracardiac manifestations. Certain <i>RYR2</i> variants may lead to a neurocardiac phenotype with distinct features that are important to recognize, as these patients may be at higher risk.
Authors
- Xander H.T. Wehrens (ORCID: https://orcid.org/0000-0001-5044-672X)
- Prince J. Kannankeril (ORCID: https://orcid.org/0000-0002-1529-9872)
- Jeffrey J. Kim (ORCID: https://orcid.org/0000-0003-2441-8308)
- Ulrich Krause (ORCID: https://orcid.org/0000-0003-3673-165X)
- Robert M. Hamilton (ORCID: https://orcid.org/0000-0002-5344-1278)
- Andrew Paul Landstrom (ORCID: https://orcid.org/0000-0002-1878-9631)
- Erick Jimenez (ORCID: https://orcid.org/0000-0001-6507-7007)
- James C. Perry (ORCID: https://orcid.org/0000-0001-9520-4660)
- Sit‐Yee Kwok (ORCID: https://orcid.org/0000-0001-8149-8004)
- Georgia Sarquella‐Brugada (ORCID: https://orcid.org/0000-0002-6857-8904)
- Andrew D. Krahn (ORCID: https://orcid.org/0000-0002-7982-1586)
- Santokh Dhillon (ORCID: https://orcid.org/0000-0001-9922-3981)
- Peter Kubuš (ORCID: https://orcid.org/0000-0002-3489-372X)
- Mohammed A. Ebrahim
- Adam C. Kean (ORCID: https://orcid.org/0000-0003-3966-4261)
- Ming‐Lon Young (ORCID: https://orcid.org/0000-0002-9120-5313)
- Svjetlana Tisma‐Dupanovic (ORCID: https://orcid.org/0000-0001-7185-4159)
- Christopher L. Johnsrude (ORCID: https://orcid.org/0000-0002-7621-4342)
- Taylor S. Howard
- Sara B. Stephens (ORCID: https://orcid.org/0000-0002-2180-2198)
- Tam Dam Pham
- Allison C. Hill (ORCID: https://orcid.org/0000-0002-1166-0042)
- Shubhayan Sanatani (ORCID: https://orcid.org/0000-0001-9296-7400)
- Susan P. Etheridge (ORCID: https://orcid.org/0000-0002-2492-422X)
- Frank A. Fish (ORCID: https://orcid.org/0009-0002-4054-6262)
- Fatmeh Charafeddine (ORCID: https://orcid.org/0000-0003-2132-8649)
- Peter Fischbach (ORCID: https://orcid.org/0000-0001-5201-0006)
- Dania Kallas (ORCID: https://orcid.org/0000-0002-7438-0873)
- Christina Y. Miyake (ORCID: https://orcid.org/0000-0002-3120-9320)
- Santiago O. Valdés
- Terézia Tavačová (ORCID: https://orcid.org/0000-0002-0699-8284)
- Joshua Kovach (ORCID: https://orcid.org/0000-0003-0251-9757)
- Joseph Atallah (ORCID: https://orcid.org/0000-0001-8763-2067)
- Martin J. LaPage (ORCID: https://orcid.org/0000-0002-5694-6570)
- Oliver M. Moore (ORCID: https://orcid.org/0000-0003-3986-7982)
- Seshadri Balaji (ORCID: https://orcid.org/0000-0001-5864-5125)
- Ian H. Law (ORCID: https://orcid.org/0000-0001-7309-6005)
- Anne Fournier (ORCID: https://orcid.org/0000-0002-2592-3202)
- Bradley C. Clark (ORCID: https://orcid.org/0000-0002-8186-8471)
- Anjan S. Batra (ORCID: https://orcid.org/0009-0006-8223-2631)
- Anna Kamp (ORCID: https://orcid.org/0000-0003-0095-1044)
Institutions
- Children's Hospital of Wisconsin (US)
- University of Iowa (US)
- Dalhousie University (CA)
- University of Minnesota (US)
- Hospital Sant Joan de Déu Barcelona (ES)
- Nationwide Children's Hospital (US)
- Children's Hospital of Los Angeles (US)
- University of British Columbia (CA)
- University of Louisville (US)
- Oregon Health & Science University (US)
- Duke University (US)
- Baylor College of Medicine (US)
- University of California, Irvine (US)
- Charles University (CZ)
- University of Utah (US)
- Universitat de Girona (ES)
- University of Michigan (US)
- Hospital for Sick Children (CA)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Kuwait University (KW)
- Rady Children's Hospital-San Diego (US)
- Duchess of Kent Children's Hospital (CN)
- University Hospital in Motol (CZ)
- Monroe Carell Jr. Children's Hospital (US)
- University of Iowa Stead Family Children’s Hospital (US)
- American University of Beirut Medical Center (LB)
- Children's Healthcare of Atlanta (US)
- Texas Children's Hospital (US)
- BC Children's Hospital (CA)
- Stollery Children's Hospital (CA)
- Nemours Children's Clinic (US)
- Joe DiMaggio Children's Hospital (US)
- University of Minnesota Children's Hospital (US)
- Indiana University – Purdue University Indianapolis (US)
- University of Göttingen (DE)
- Vanderbilt University Medical Center (US)
Publication Details
- Journal
- Circulation Arrhythmia and Electrophysiology
- Published
- 2025-09-26
- DOI
- https://doi.org/10.1161/circep.124.013437
- Citations
- 3
- Primary Topic
- Cardiac Arrhythmias and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 4.16