Journal article
Clinical Outcomes and Modes of Death in Timothy Syndrome A Multicenter International Study of a Rare Disorder
Keith A Dufendach, Katherine Timothy, Michael J Ackerman, Benjamin Blevins, Andreas Pflaumer, Susan Etheridge, James Perry, Nico A Blom, Joel Temple, Devyani Chowdhury, Jonathan R Skinner, Christopher Johnsrude, Andras Bratincsak, J Martijn Bos, Maully Shah
JACC Clinical Electrophysiology | ELSEVIER | Published : 2018
Abstract
OBJECTIVES: The objective of this study was to evaluate contemporary clinical outcomes and identify triggers for arrhythmias or sudden death in an international cohort of Timothy Syndrome (TS) patients including those with novel TS-associated CACNA1C mutations. BACKGROUND: TS is an extremely rare genetic disorder of the L-type cardiac channel Cav1.2 encoded by CACNA1C. The syndrome is characterized by multisystem abnormalities consisting of QT prolongation, congenital heart defects, syndactyly, facial dysmorphism, and neurological symptoms. METHODS: Patients diagnosed with TS between January 1, 1994, and April 1, 2016, from 12 international tertiary care pediatric centers were included in th..
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Funding Acknowledgements
This study was approved by the Pediatric and Congenital Electrophysiology Society (PACES). The views expressed in this article are those of the authors and do not reflect the official policy or position of the Department of the Navy, Department of Defense, or the United States Government. Dr. Ackerman has received consultant fees from Boston Scientific, Gilead Sciences, Medtronic, and St. Jude Medical; and royalties from Transgenomic. Dr. Shah has received a research grant unrelated to the study presented in this manuscript from Medtronic, Inc. Dr. Temple has served as a consultant for St. Jude Medical. All other authors have reported that they have no relationships relevant to this paper to disclose.