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Genetic cardiac rhythm disease

MedGen UID:
1826132
Concept ID:
C5681782
Disease or Syndrome
Related genes: RYR2, GNAI2
 
Orphanet: ORPHA101934

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G
J Neurol 2021 Jun;268(6):2109-2122. Epub 2020 Jan 6 doi: 10.1007/s00415-019-09688-0. PMID: 31907599Free PMC Article
Al-Khatib SM, Stevenson WG, Ackerman MJ, Bryant WJ, Callans DJ, Curtis AB, Deal BJ, Dickfeld T, Field ME, Fonarow GC, Gillis AM, Granger CB, Hammill SC, Hlatky MA, Joglar JA, Kay GN, Matlock DD, Myerburg RJ, Page RL
J Am Coll Cardiol 2018 Oct 2;72(14):e91-e220. Epub 2018 Aug 16 doi: 10.1016/j.jacc.2017.10.054. PMID: 29097296
Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ
Heart Rhythm 2009 Sep;6(9):1297-303. Epub 2009 Jun 23 doi: 10.1016/j.hrthm.2009.05.021. PMID: 19716085Free PMC Article

Recent clinical studies

Etiology

Manoj P, Kim JA, Kim S, Li T, Sewani M, Chelu MG, Li N
Am J Physiol Heart Circ Physiol 2023 Mar 1;324(3):H259-H278. Epub 2022 Dec 23 doi: 10.1152/ajpheart.00618.2022. PMID: 36563014Free PMC Article
Krahn AD, Laksman Z, Sy RW, Postema PG, Ackerman MJ, Wilde AAM, Han HC
JACC Clin Electrophysiol 2022 May;8(5):687-706. doi: 10.1016/j.jacep.2022.02.017. PMID: 35589186
Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
Krahn AD, Behr ER, Hamilton R, Probst V, Laksman Z, Han HC
JACC Clin Electrophysiol 2022 Mar;8(3):386-405. doi: 10.1016/j.jacep.2021.12.001. PMID: 35331438
Schwartz PJ, Ackerman MJ, Antzelevitch C, Bezzina CR, Borggrefe M, Cuneo BF, Wilde AAM
Nat Rev Dis Primers 2020 Jul 16;6(1):58. doi: 10.1038/s41572-020-0188-7. PMID: 32678103Free PMC Article

Diagnosis

Krahn AD, Laksman Z, Sy RW, Postema PG, Ackerman MJ, Wilde AAM, Han HC
JACC Clin Electrophysiol 2022 May;8(5):687-706. doi: 10.1016/j.jacep.2022.02.017. PMID: 35589186
Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
Krahn AD, Behr ER, Hamilton R, Probst V, Laksman Z, Han HC
JACC Clin Electrophysiol 2022 Mar;8(3):386-405. doi: 10.1016/j.jacep.2021.12.001. PMID: 35331438
Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G
J Neurol 2021 Jun;268(6):2109-2122. Epub 2020 Jan 6 doi: 10.1007/s00415-019-09688-0. PMID: 31907599Free PMC Article
Schwartz PJ, Ackerman MJ, Antzelevitch C, Bezzina CR, Borggrefe M, Cuneo BF, Wilde AAM
Nat Rev Dis Primers 2020 Jul 16;6(1):58. doi: 10.1038/s41572-020-0188-7. PMID: 32678103Free PMC Article

Therapy

Lingvay I, Brown-Frandsen K, Colhoun HM, Deanfield J, Emerson SS, Esbjerg S, Hardt-Lindberg S, Hovingh GK, Kahn SE, Kushner RF, Lincoff AM, Marso SP, Fries TM, Plutzky J, Ryan DH; SELECT Study Group
Obesity (Silver Spring) 2023 Jan;31(1):111-122. Epub 2022 Dec 10 doi: 10.1002/oby.23621. PMID: 36502289Free PMC Article
Krahn AD, Laksman Z, Sy RW, Postema PG, Ackerman MJ, Wilde AAM, Han HC
JACC Clin Electrophysiol 2022 May;8(5):687-706. doi: 10.1016/j.jacep.2022.02.017. PMID: 35589186
Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
Krahn AD, Behr ER, Hamilton R, Probst V, Laksman Z, Han HC
JACC Clin Electrophysiol 2022 Mar;8(3):386-405. doi: 10.1016/j.jacep.2021.12.001. PMID: 35331438
Al-Khatib SM, Stevenson WG, Ackerman MJ, Bryant WJ, Callans DJ, Curtis AB, Deal BJ, Dickfeld T, Field ME, Fonarow GC, Gillis AM, Granger CB, Hammill SC, Hlatky MA, Joglar JA, Kay GN, Matlock DD, Myerburg RJ, Page RL
J Am Coll Cardiol 2018 Oct 2;72(14):e91-e220. Epub 2018 Aug 16 doi: 10.1016/j.jacc.2017.10.054. PMID: 29097296

Prognosis

Wu Y, Zhan S, Chen L, Sun M, Li M, Mou X, Zhang Z, Xu L, Xu Y
J Transl Med 2023 Aug 14;21(1):544. doi: 10.1186/s12967-023-04381-3. PMID: 37580750Free PMC Article
Krahn AD, Behr ER, Hamilton R, Probst V, Laksman Z, Han HC
JACC Clin Electrophysiol 2022 Mar;8(3):386-405. doi: 10.1016/j.jacep.2021.12.001. PMID: 35331438
Chaitman BR, Alexander KP, Cyr DD, Berger JS, Reynolds HR, Bangalore S, Boden WE, Lopes RD, Demkow M, Piero Perna G, Riezebos RK, McFalls EO, Banerjee S, Bagai A, Gosselin G, O'Brien SM, Rockhold FW, Waters DD, Thygesen KA, Stone GW, White HD, Maron DJ, Hochman JS; ISCHEMIA Research Group
Circulation 2021 Feb 23;143(8):790-804. Epub 2020 Dec 3 doi: 10.1161/CIRCULATIONAHA.120.047987. PMID: 33267610Free PMC Article
Stiles MK, Wilde AAM, Abrams DJ, Ackerman MJ, Albert CM, Behr ER, Chugh SS, Cornel MC, Gardner K, Ingles J, James CA, Jimmy Juang JM, Kääb S, Kaufman ES, Krahn AD, Lubitz SA, MacLeod H, Morillo CA, Nademanee K, Probst V, Saarel EV, Sacilotto L, Semsarian C, Sheppard MN, Shimizu W, Skinner JR, Tfelt-Hansen J, Wang DW
Heart Rhythm 2021 Jan;18(1):e1-e50. Epub 2020 Oct 19 doi: 10.1016/j.hrthm.2020.10.010. PMID: 33091602Free PMC Article
Zou R, Zhang D, Lv L, Shi W, Song Z, Yi B, Lai B, Chen Q, Yang S, Hua P
J Transl Med 2019 Feb 13;17(1):45. doi: 10.1186/s12967-019-1790-x. PMID: 30760287Free PMC Article

Clinical prediction guides

Zhao Y, Xiong W, Li C, Zhao R, Lu H, Song S, Zhou Y, Hu Y, Shi B, Ge J
Signal Transduct Target Ther 2023 Nov 20;8(1):431. doi: 10.1038/s41392-023-01652-9. PMID: 37981648Free PMC Article
Wang J, Huang P, Yu Q, Lu J, Liu P, Yang Y, Feng Z, Cai J, Yang G, Yuan H, Tang H, Lu Y
Eur Heart J 2023 Sep 14;44(35):3374-3382. doi: 10.1093/eurheartj/ehad523. PMID: 37602368Free PMC Article
Wu Y, Zhan S, Chen L, Sun M, Li M, Mou X, Zhang Z, Xu L, Xu Y
J Transl Med 2023 Aug 14;21(1):544. doi: 10.1186/s12967-023-04381-3. PMID: 37580750Free PMC Article
Yang WY, Melgarejo JD, Thijs L, Zhang ZY, Boggia J, Wei FF, Hansen TW, Asayama K, Ohkubo T, Jeppesen J, Dolan E, Stolarz-Skrzypek K, Malyutina S, Casiglia E, Lind L, Filipovský J, Maestre GE, Li Y, Wang JG, Imai Y, Kawecka-Jaszcz K, Sandoya E, Narkiewicz K, O'Brien E, Verhamme P, Staessen JA; International Database on Ambulatory Blood Pressure in Relation to Cardiovascular Outcomes (IDACO) Investigators
JAMA 2019 Aug 6;322(5):409-420. doi: 10.1001/jama.2019.9811. PMID: 31386134Free PMC Article
Zou R, Zhang D, Lv L, Shi W, Song Z, Yi B, Lai B, Chen Q, Yang S, Hua P
J Transl Med 2019 Feb 13;17(1):45. doi: 10.1186/s12967-019-1790-x. PMID: 30760287Free PMC Article

Recent systematic reviews

Phulka JS, Ashraf M, Bajwa BK, Pare G, Laksman Z
Circ Genom Precis Med 2023 Jun;16(3):286-313. Epub 2023 Apr 10 doi: 10.1161/CIRCGEN.122.003834. PMID: 37035923
Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, Feilotter H, Amenta S, Mazza D, Bikker H, Sturm AC, Garcia J, Ackerman MJ, Hershberger RE, Perez MV, Zareba W, Ware JS, Wilde AAM, Gollob MH
Circulation 2020 Feb 11;141(6):418-428. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.043132. PMID: 31983240Free PMC Article
Kayvanpour E, Sedaghat-Hamedani F, Gi WT, Tugrul OF, Amr A, Haas J, Zhu F, Ehlermann P, Uhlmann L, Katus HA, Meder B
Clin Res Cardiol 2019 Nov;108(11):1297-1308. Epub 2019 Apr 12 doi: 10.1007/s00392-019-01465-3. PMID: 30980206
Longo UG, Risi Ambrogioni L, Ciuffreda M, Maffulli N, Denaro V
Br Med Bull 2018 Sep 1;127(1):43-53. doi: 10.1093/bmb/ldy017. PMID: 29931253
Eisenhut M
Crit Care 2006;10(4):R107. doi: 10.1186/cc4984. PMID: 16859512Free PMC Article

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