Cardiac phenotype in
Adolescent
Adult
Cerebellar Ataxia
/ genetics
Child
Child, Preschool
Cohort Studies
Female
Foot Deformities, Congenital
/ genetics
Hearing Loss, Sensorineural
/ genetics
Hemiplegia
/ diagnosis
Humans
Infant
Male
Middle Aged
Mutation
/ genetics
Optic Atrophy
/ genetics
Phenotype
Reflex, Abnormal
/ genetics
Seizures
/ therapy
Sodium-Potassium-Exchanging ATPase
/ genetics
Young Adult
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
24 11 2020
24 11 2020
Historique:
received:
23
12
2019
accepted:
26
06
2020
pubmed:
12
9
2020
medline:
17
12
2020
entrez:
11
9
2020
Statut:
ppublish
Résumé
To define the risks and consequences of cardiac abnormalities in Patients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) with Ninety-eight patients with AHC, 9 with RDP, and 3 with CAPOS (63 female, mean age 17 years) were included. Resting ECG abnormalities were found in 52 of 87 (60%) with AHC, 2 of 3 (67%) with CAPOS, and 6 of 9 (67%) with RDP. Serial ECGs showed dynamic changes in 10 of 18 patients with AHC. The first Holter ECG was abnormal in 24 of 65 (37%) cases with AHC and RDP with either repolarization or conduction abnormalities. Echocardiography was normal. Cardiac intervention was required in 3 of 98 (≈3%) patients with AHC. In the mouse model, resting ECGs showed intracardiac conduction delay; during induced seizures, heart block or complete sinus arrest led to death. We found increased prevalence of ECG dynamic abnormalities in all
Identifiants
pubmed: 32913013
pii: WNL.0000000000010794
doi: 10.1212/WNL.0000000000010794
pmc: PMC7734736
doi:
Substances chimiques
ATP1A3 protein, human
0
Sodium-Potassium-Exchanging ATPase
EC 7.2.2.13
Types de publication
Journal Article
Multicenter Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e2866-e2879Subventions
Organisme : NINDS NIH HHS
ID : R01 NS058949
Pays : United States
Organisme : NINDS NIH HHS
ID : R21 NS106087
Pays : United States
Organisme : Department of Health
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : R21 NS104384
Pays : United States
Organisme : NINDS NIH HHS
ID : R33 NS106087
Pays : United States
Organisme : British Heart Foundation
ID : RG/15/15/31742
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : R21 AG046897
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS095884
Pays : United States
Organisme : Medical Research Council
ID : MR/T024062/1
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : R33 NS104384
Pays : United States
Organisme : NHLBI NIH HHS
ID : F30 HL131217
Pays : United States
Informations de copyright
Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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