A Natural History Study of Timothy Syndrome
This study represents the first Natural History Study of Timothy syndrome, offering a comprehensive overview of the disease's clinical manifestations. We demonstrate that both cardiac and extra-cardiac features are prevalent across all patient groups, underscoring the syndromic nature of CACNA1C variants. While the critical role of long QT syndrome and cardiac arrhythmias in Timothy syndrome has been well recognized, our findings indicate that hypoglycemia and respiratory dysfunction also pose significant life-threatening risks, emphasizing the need for comprehensive therapeutic management of affected individuals.
Authors
- Andy Golden (ORCID: https://orcid.org/0000-0002-8599-2031)
- Rosemary Bauer (ORCID: https://orcid.org/0000-0002-0350-1666)
- Ivy E. Dick (ORCID: https://orcid.org/0000-0002-7253-6846)
- M. Cecilia Gonzalez Corcia (ORCID: https://orcid.org/0000-0002-4289-049X)
- Dominic Abrams (ORCID: https://orcid.org/0000-0002-2113-4572)
- Geoffrey S. Pitt (ORCID: https://orcid.org/0000-0003-2246-0289)
- Kerry Larkin (ORCID: https://orcid.org/0000-0001-6410-9337)
- Edward P. Walsh (ORCID: https://orcid.org/0000-0001-6203-4415)
- Alexandra Valsamakis
- Katherine W. Timothy
Institutions
- Northwestern University (US)
- University of Maryland, Baltimore (US)
- Boston Children's Hospital (US)
- Roche (United States) (US)
- Harvard University (US)
- Cornell University (US)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Yale University (US)
- National Institute of Diabetes and Digestive and Kidney Diseases (US)
- Rome Foundation (US)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-11-23
- DOI
- https://doi.org/10.1186/s13023-024-03445-x
- Citations
- 11
- Primary Topic
- Cardiac electrophysiology and arrhythmias
- Type
- article
- Field-Weighted Citation Impact
- 4.42
Funders
- National Institutes of Health
- National Heart, Lung, and Blood Institute
- National Institute of Diabetes and Digestive and Kidney Diseases