Details

Autor(en) / Beteiligte

• Balestrini, Simona
• Mikati, Mohamad A
• Álvarez-García-Rovés, Reyes
• Carboni, Michael
• Hunanyan, Arsen S
• Kherallah, Bassil
• McLean, Melissa
• Prange, Lyndsey
• De Grandis, Elisa
• Gagliardi, Alessandra
• Pisciotta, Livia
• Stagnaro, Michela
• Veneselli, Edvige
• Campistol, Jaume
• Fons, Carmen
• Pias-Peleteiro, Leticia
• Brashear, Allison
• Miller, Charlotte
• Samões, Raquel
• Brankovic, Vesna
• Padiath, Quasar S
• Potic, Ana
• Pilch, Jacek
• Vezyroglou, Aikaterini
• Bye, Ann M E
• Davis, Andrew M
• Ryan, Monique M
• Semsarian, Christopher
• Hollingsworth, Georgina
• Scheffer, Ingrid E
• Granata, Tiziana
• Nardocci, Nardo
• Ragona, Francesca
• Arzimanoglou, Alexis
• Panagiotakaki, Eleni
• Carrilho, Inês
• Zucca, Claudio
• Novy, Jan
• Dzieżyc, Karolina
• Parowicz, Marek
• Mazurkiewicz-Bełdzińska, Maria
• Weckhuysen, Sarah
• Pons, Roser
• Groppa, Sergiu
• Sinden, Daniel S
• Pitt, Geoffrey S
• Tinker, Andrew
• Ashworth, Michael
• Michalak, Zuzanna
• Thom, Maria
• Cross, J Helen
• Vavassori, Rosaria
• Kaski, Juan P
• Sisodiya, Sanjay M

Titel

Cardiac phenotype in ATP1A3 -related syndromes: A multicenter cohort study

Ist Teil von

• Neurology, 2020-11, Vol.95 (21), p.e2866

Ort / Verlag

United States

Erscheinungsjahr

2020

Quelle

MEDLINE

Beschreibungen/Notizen

• To define the risks and consequences of cardiac abnormalities in -related syndromes. 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 genetic analysis and at least 1 cardiac assessment were included. We evaluated the cardiac phenotype in an knock-in mouse (Mashl ) to determine the sequence of events in seizure-related cardiac death. 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 -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 -related disease. -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.