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Timothy综合征因1989年美国犹他州大学Timothy教授首先报道一例患儿有心电图QT延长,心律失常,并有并指/趾等先天性遗传性异常,随后归为长QT综合征8型,属于一种遗传性L型Ca2+通道病。[定义]Timothy(Timothy Syndrome)是一种罕见的多器官障碍的遗传性疾病,主要表现为LQT综合征伴各种心律失常,可伴先心病,并指/趾等先天性畸形,常有全身免疫功能低下,孤独症等。实际其是一种心脏、外周与中枢神经系统、肝脾、结缔组织、骨髓等全身多种组织都有编码为CaV1.2的L型Ca2+通道异常,该基因CACNA1c的突变使多脏器功能发生异常。
Timothy syndrome was first reported in 1989 by the University of Utah, Professor Timothy reported a case of children with QT prolongation of ECG, arrhythmia, and hematopoietic and other congenital hereditary abnormalities, followed by the long QT syndrome type 8, belonging to a Hereditary L-type Ca2 + channel disease. [Definition] Timothy (Timothy Syndrome) is a rare genetic disorder of multiple organ disorders, mainly manifested as LQT syndrome with a variety of arrhythmias, may be associated with congenital heart disease, and toe and other congenital malformations, often the whole body Immune dysfunction, autism and so on. Actually it is a kind of heart, the peripheral and central nervous system, liver and spleen, connective tissue, bone marrow and other various body tissues have CaV1.2 encoding L-type Ca2 + channel abnormalities, the gene mutation of CACNA1c so that multiple organ function abnormal.