International Cohort of Neonatal Timothy Syndrome

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Plain Language SummaryTimothy syndrome is a rare, life-threatening condition affecting children. It is a genetic disorder resulting in heart rhythm abnormalities, fusion of digits, and a high risk of sudden death. A diagnosis in early infancy allows appropriate medical therapy to be used to avoid life-threatening rhythm abnormalities and sudden death. This study reports the key findings of the Timothy Syndrome Foundation’s international registry. It highlights the risk of heart rhythm abnormalities from before birth and in childhood. The authors aim to raise awareness of this rare disease among healthcare professionals caring for babies and children to improve early diagnosis and specialist treatment of the condition.