智力和神经发育迟缓的儿科白内障多态心室性心动节拍:明显的特征和一个更恶性的神经心脏现象型

Christina Y Miyake1,2, Dania Kallas3, Sara B Stephens1,3

  • 1Division of Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston (C.Y.M., S.B.S.,T.S.H., S.O.V., T.D.N.P., J.J.K.).

概括

智力和神经发育迟缓 (INDD) 与与RYR2相关的学内激素多形心室性心力衰竭 (CPVT) 有关,呈现出明显的神经心脏表型. 识别这些RYR2变异对于识别高风险患者至关重要.

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