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Cardiac phenotype in ATP1A3-related syndromes

2020Journal article Open access
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dc.contributor.authorBalestrini, Simona
dc.contributor.authorMikati, Mohamad A.
dc.contributor.authorÁlvarez-García-Rovés, Reyes
dc.contributor.authorCarboni, Michael
dc.contributor.authorHunanyan, Arsen S.
dc.contributor.authorKherallah, Bassil
dc.contributor.authorMcLean, Melissa
dc.contributor.authorPrange, Lyndsey
dc.contributor.authorDe Grandis, Elisa
dc.contributor.authorGagliardi, Alessandra
dc.contributor.authorPisciotta, Livia
dc.contributor.authorStagnaro, Michela
dc.contributor.authorVeneselli, Edvige
dc.contributor.authorCampistol, Jaume
dc.contributor.authorFons, Carmen
dc.contributor.authorPias-Peleteiro, Leticia
dc.contributor.authorBrashear, Allison
dc.contributor.authorMiller, Charlotte
dc.contributor.authorSamões, Raquel
dc.contributor.authorBrankovic, Vesna
dc.contributor.authorPadiath, Quasar S.
dc.contributor.authorPotic, Ana
dc.contributor.authorPilch, Jacek
dc.contributor.authorVezyroglou, Aikaterini
dc.contributor.authorBye, Ann M.E.
dc.contributor.authorDavis, Andrew M.
dc.contributor.authorRyan, Monique M.
dc.contributor.authorSemsarian, Christopher
dc.contributor.authorHollingsworth, Georgina
dc.contributor.authorScheffer, Ingrid E.
dc.contributor.authorGranata, Tiziana
dc.contributor.authorNardocci, Nardo
dc.contributor.authorRagona, Francesca
dc.contributor.authorArzimanoglou, Alexis
dc.contributor.authorPanagiotakaki, Eleni
dc.contributor.authorCarrilho, Inês
dc.contributor.authorZucca, Claudio
dc.contributor.authorNovy, Jan
dc.contributor.authorDzieżyc, Karolina
dc.contributor.authorParowicz, Marek
dc.contributor.authorMazurkiewicz-Bełdzińska, Maria
dc.contributor.authorWeckhuysen, Sarah
dc.contributor.authorPons, Roser
dc.contributor.authorGroppa, Sergiu
dc.contributor.authorSinden, Daniel S.
dc.contributor.authorPitt, Geoffrey S.
dc.contributor.authorTinker, Andrew
dc.contributor.authorAshworth, Michael
dc.contributor.authorMichalak, Zuzanna
dc.contributor.authorThom, Maria
dc.contributor.authorCross, J. Helen
dc.contributor.authorVavassori, Rosaria
dc.contributor.authorKaski, Juan P.
dc.contributor.authorSisodiya, Sanjay M.
dc.date.accessioned2022-06-30T11:02:01Z
dc.date.available2022-06-30T11:02:01Z
dc.date.issued2020
dc.description.abstractObjective: To define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes. Methods: 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 ATP1A3 genetic analysis and at least 1 cardiac assessment were included. We evaluated the cardiac phenotype in an Atp1a3 knock-in mouse (Mashl+/-) to determine the sequence of events in seizure-related cardiac death. Results: 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. Conclusions: We found increased prevalence of ECG dynamic abnormalities in all ATP1A3-related syndromes, with a risk of life-threatening cardiac rhythm abnormalities equivalent to that in established cardiac channelopathies (≈3%). Sudden cardiac death due to conduction abnormality emerged as a seizure-related outcome in murine Atp1a3-related disease. ATP1A3-related syndromes are cardiac diseases and neurologic diseases. We provide guidance to identify patients potentially at higher risk of sudden cardiac death who may benefit from insertion of a pacemaker or implantable cardioverter-defibrillator.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBalestrini S, Mikati MA, Álvarez-García-Rovés R, et al. Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study. Neurology. 2020;95(21):e2866-e2879. doi:10.1212/WNL.0000000000010794pt_PT
dc.identifier.doi10.1212/WNL.0000000000010794pt_PT
dc.identifier.issn0028-3878
dc.identifier.issn1526-632X
dc.identifier.urihttp://hdl.handle.net/10400.16/2686
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWolters Kluwer Healthpt_PT
dc.relation.publisherversionhttps://n.neurology.org/content/95/21/e2866.longpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.titleCardiac phenotype in ATP1A3-related syndromespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceUnited States of Americapt_PT
oaire.citation.endPagee2879pt_PT
oaire.citation.issue21pt_PT
oaire.citation.startPagee2866pt_PT
oaire.citation.titleNeurologypt_PT
oaire.citation.volume95pt_PT
person.familyNameSamões
person.givenNameRaquel
person.identifier.orcid0000-0001-8296-883X
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication1db2cd80-d917-4410-95ec-1fb62c7f56a7
relation.isAuthorOfPublication.latestForDiscovery1db2cd80-d917-4410-95ec-1fb62c7f56a7

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