Clinical Outcomes and Modes of Death in Timothy Syndrome
| Autor: | Christopher L. Johnsrude, Nico A. Blom, Susan P. Etheridge, Benjamin Blevins, James C. Perry, Andras Bratincsak, Jonathan R. Skinner, Katherine W. Timothy, Andreas Pflaumer, Michael J. Ackerman, Keith A. Dufendach, Maully J. Shah, Joel Temple, J. Martijn Bos, Devyani Chowdhury |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Pediatrics
medicine.medical_specialty business.industry Timothy syndrome Retrospective cohort study 030204 cardiovascular system & hematology Implantable defibrillator Hypoglycemia medicine.disease Sudden death Sudden cardiac death 03 medical and health sciences 0302 clinical medicine Internal medicine Pulseless electrical activity Ventricular fibrillation medicine Cardiology business 030217 neurology & neurosurgery |
| Zdroj: | JACC: Clinical Electrophysiology. 4:459-466 |
| ISSN: | 2405-500X |
| Popis: | 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 this retrospective study. Data were gathered via survey from the patients’ electrophysiologists. Results Seventeen patients diagnosed with TS were identified. Length of follow-up was 4.9 years (range 3.0 to 19.0 years). Mean QTc was 640 ms (range 500 to 976 ms). All patients were treated with beta-blockers; 13 patients (76%) were also treated with an implantable defibrillator. Eleven patients experienced an episode of aborted cardiac arrest, 6 associated with general anesthesia and 2 with hypoglycemia. Four patients died suddenly due to ventricular fibrillation, 2 of whom had associated hypoglycemia. Conclusions This study shows that mortality in TS patients is due to multifactorial mechanisms, which include ventricular arrhythmias, pulseless electrical activity, and hypoglycemia. A simple nomenclature for ongoing studies of TS and related syndromes is described. A worldwide prospective registry is needed for continued exploration of this syndrome. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|