Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients
Miyake C, Lay E, Soler-Alfonso C, Glinton K, Houck K, Tosur M, Moran N, Stephens S, Scaglia F, Howard T, Kim J, Pham T, Valdes S, Li N, Murali C, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson C, Kannankeril P, Baxter S, Singer-Berk M, Wood J, Mackenzie S, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris S, Ehsan S, Azamian M, Lalani S. Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. Genetics In Medicine 2022, 25: 100352. PMID: 36473599, PMCID: PMC10306319, DOI: 10.1016/j.gim.2022.11.020.Peer-Reviewed Original ResearchConceptsMetabolic crisisNatural historyCardiac crisisDeficiency disordersOngoing natural history studyMedical record reviewNatural history studiesAutosomal recessive diseaseMedian ageMultivitamin supplementationRecord reviewIntermittent ataxiaNeurodevelopmental delayEarly infancyPatientsBaseline assessmentSpeech difficultiesB complexDevelopmental milestonesRecessive diseaseParent interviewsUnrelated familiesAtaxiaHistory studiesProgressive delayCardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises
Miyake CY, Lay EJ, Beach CM, Ceresnak SR, Delauz CM, Howard TS, Janson CM, Jardine K, Kannankeril PJ, Kava M, Kim JJ, Liberman L, Macicek SL, Pham TD, Robertson T, Valdes SO, Webster G, Stephens SB, Milewicz DM, Azamian M, Ehsan SA, Houck KM, Soler-Alfonso C, Glinton KE, Tosur M, Li N, Xu W, Lalani SR, Zhang L. Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises. Heart Rhythm 2022, 19: 1673-1681. PMID: 35568137, PMCID: PMC10642301, DOI: 10.1016/j.hrthm.2022.05.009.Peer-Reviewed Original ResearchConceptsVentricular tachycardiaCardiac crisisCardiac arrestMetabolic crisisIntravenous magnesiumAtrial pacingCardiac arrhythmiasRetrospective multicenter chart reviewType I Brugada patternInitiation of feedsMulticenter chart reviewMembrane oxygenation supportCurrent treatment optionsAutosomal recessive diseaseLethal cardiac arrhythmiasBrugada patternOxygenation supportCardiac manifestationsChart reviewQTc prolongationAntiarrhythmic drugsHeart blockSupraventricular tachycardiaTreatment optionsSuccessful treatment