Meredith K. Srour, Minu-Tshyeto K. Bidzimou, Padmapriya Muralidharan, Saige M. Mitchell, Mary E. Moya-Mendez, Lauren E. Parker, Gabriela Reyes Valenzuela, Roberto Caraballo, Giacomo Garone, Federico Vigevano, Sarah Weckhuysen, Charissa Millevert, Monica Troncoso, Mario Matamala, Simona Balestrini, Sanjay M. Sisodiya, Josephine Poole, Claudio Zucca, Eleni Panagiotakaki, Maria T. Papadopoulou, Sébile Tchaicha, Matthildi Athina Papathanasiou Terzi, Marta Zawadzka, Maria Mazurkiewicz-Bełdzińska, Carmen Fons, Jennifer Anticona, Elisa De Grandis, Ramona Cordani, Livia Pisciotta, Sergiu Groppa, Sandra Paryjas, Francesca Ragona, Elena Mangia, Tiziana Granata, Andrey Megvinov, Rosaria Vavassori, Mohamad A. Mikati, Andrew P. Landstrom
{"title":"ATP1A3编码的钠-钾ATP酶α-3亚基变异的儿童和青少年患者对心动过缓的QT反应受损，容易出现窦房结功能障碍","authors":"Meredith K. Srour, Minu-Tshyeto K. Bidzimou, Padmapriya Muralidharan, Saige M. Mitchell, Mary E. Moya-Mendez, Lauren E. Parker, Gabriela Reyes Valenzuela, Roberto Caraballo, Giacomo Garone, Federico Vigevano, Sarah Weckhuysen, Charissa Millevert, Monica Troncoso, Mario Matamala, Simona Balestrini, Sanjay M. Sisodiya, Josephine Poole, Claudio Zucca, Eleni Panagiotakaki, Maria T. Papadopoulou, Sébile Tchaicha, Matthildi Athina Papathanasiou Terzi, Marta Zawadzka, Maria Mazurkiewicz-Bełdzińska, Carmen Fons, Jennifer Anticona, Elisa De Grandis, Ramona Cordani, Livia Pisciotta, Sergiu Groppa, Sandra Paryjas, Francesca Ragona, Elena Mangia, Tiziana Granata, Andrey Megvinov, Rosaria Vavassori, Mohamad A. Mikati, Andrew P. Landstrom","doi":"10.1101/2024.08.31.24312446","DOIUrl":null,"url":null,"abstract":"<strong>Background</strong> Alternating hemiplegia of childhood (AHC) is a rare disorder with both neurologic and cardiac manifestations. The ATP1A3-D801N variant is associated with a pathologically short QT interval and risk of ventricular arrhythmia following bradycardia; however, the mechanism of this remains unknown. We investigated the relationship between heart rate (HR), QT, and QTc, hypothesizing that individuals with ATP1A3-D801N have abnormal, impaired shortening of QT and QTc at lower HR leading to arrhythmia predisposition.","PeriodicalId":501297,"journal":{"name":"medRxiv - Cardiovascular Medicine","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Children and Adolescent Patients with Variants in the ATP1A3-encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction\",\"authors\":\"Meredith K. Srour, Minu-Tshyeto K. Bidzimou, Padmapriya Muralidharan, Saige M. Mitchell, Mary E. Moya-Mendez, Lauren E. Parker, Gabriela Reyes Valenzuela, Roberto Caraballo, Giacomo Garone, Federico Vigevano, Sarah Weckhuysen, Charissa Millevert, Monica Troncoso, Mario Matamala, Simona Balestrini, Sanjay M. Sisodiya, Josephine Poole, Claudio Zucca, Eleni Panagiotakaki, Maria T. Papadopoulou, Sébile Tchaicha, Matthildi Athina Papathanasiou Terzi, Marta Zawadzka, Maria Mazurkiewicz-Bełdzińska, Carmen Fons, Jennifer Anticona, Elisa De Grandis, Ramona Cordani, Livia Pisciotta, Sergiu Groppa, Sandra Paryjas, Francesca Ragona, Elena Mangia, Tiziana Granata, Andrey Megvinov, Rosaria Vavassori, Mohamad A. Mikati, Andrew P. Landstrom\",\"doi\":\"10.1101/2024.08.31.24312446\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<strong>Background</strong> Alternating hemiplegia of childhood (AHC) is a rare disorder with both neurologic and cardiac manifestations. The ATP1A3-D801N variant is associated with a pathologically short QT interval and risk of ventricular arrhythmia following bradycardia; however, the mechanism of this remains unknown. We investigated the relationship between heart rate (HR), QT, and QTc, hypothesizing that individuals with ATP1A3-D801N have abnormal, impaired shortening of QT and QTc at lower HR leading to arrhythmia predisposition.\",\"PeriodicalId\":501297,\"journal\":{\"name\":\"medRxiv - Cardiovascular Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"medRxiv - Cardiovascular Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1101/2024.08.31.24312446\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"medRxiv - Cardiovascular Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1101/2024.08.31.24312446","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Children and Adolescent Patients with Variants in the ATP1A3-encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction
Background Alternating hemiplegia of childhood (AHC) is a rare disorder with both neurologic and cardiac manifestations. The ATP1A3-D801N variant is associated with a pathologically short QT interval and risk of ventricular arrhythmia following bradycardia; however, the mechanism of this remains unknown. We investigated the relationship between heart rate (HR), QT, and QTc, hypothesizing that individuals with ATP1A3-D801N have abnormal, impaired shortening of QT and QTc at lower HR leading to arrhythmia predisposition.
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