Intellectual and Neurodevelopmental Delays in Pediatric Catecholaminergic Polymorphic Ventricular Tachycardia: Distinct Characteristics and a More Malignant Neurocardiac Phenotype.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Miyake Christina Y, Kallas Dania, Stephens Sara B, Moore Oliver M, Wehrens Xander H T, Fischbach Peter S, LaPage Martin J, Landstrom Andrew P, Law Ian H, Hill Allison C, Kannankeril Prince J, Fish Frank A, Howard Taylor S, Valdes Santiago O, Pham Tam Dan N, Kim Jeffrey J, Dhillon Santokh S, Johnsrude Christopher L, Krause Ulrich, Sarquella-Brugada Georgia, Kubuš Peter, Tavacova Terezia, Kwok Sit-Yee, Etheridge Susan P, Tisma-Dupanovic Svjetlana, Kean Adam C, Krahn Andrew D, Ebrahim Mohammed A, Atallah Joseph, Fournier Anne, Batra Anjan S, Young Ming-Lon, Perry James, Kovach Joshua R, Kamp Anna N, Clark Bradley C, Jimenez Erick, Charafeddine Fatme, Hamilton Robert M, Balaji Seshadri, Sanatani Shubhayan
Аннотация
METHODS: Retrospective combined review of patients with RYR2-related CPVT diagnosed ≤18 years with and without INDD from a single center and the International Pediatric CPVT Registry. Patients with hypoxic ischemic insult were excluded unless INDD preceded injury.
RESULTS: Among a total of 168 patients, INDD was reported in 19 (11.3% [95% CI, 7.0%-17.1%]). When compared with cases without INDD, patients with INDD exhibited distinct features including (1) younger age at onset of symptoms (median 7.0 versus 10.0 years; P=0.04); (2) higher frequency of atrial tachyarrhythmias (84.2% versus 16.3%, P<0.001); (3) atrial or ventricular tachycardia without adrenergic stimulation (81.3% versus 2.2%, P<0.001, 31.6% versus 4.5%, P=0.001 respectively); (4) cardiac structural changes or systolic dysfunction (36.8% versus 1.3%, P<0.001); and (5) higher incidence of cardiac arrest or sudden death after diagnosis (26.3% versus 2.7%, P=0.001). INDD-related RYR2 genetic variants clustered within the central and channel domains and may be specific to certain variants.
CONCLUSIONS: This study demonstrates a wider spectrum of RYR2-related disease, with a subset associated with extracardiac manifestations. Certain RYR2 variants may lead to a neurocardiac phenotype with distinct features that are important to recognize, as these patients may be at higher risk.