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Familial syndrome associated with hypertrophic cardiomyopathy

MedGen UID:
1842561
Concept ID:
C5680881
Disease or Syndrome
Synonym: Syndrome associated with hypertrophic cardiomyopathy
 
Orphanet: ORPHA217595

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial syndrome associated with hypertrophic cardiomyopathy

Professional guidelines

PubMed

Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J
BMC Cardiovasc Disord 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. PMID: 33673806Free PMC Article
Hoss S, Habib M, Silver J, Care M, Chan RH, Hanneman K, Morel CF, Iwanochko RM, Gollob MH, Rakowski H, Adler A
Circ Genom Precis Med 2020 Apr;13(2):e002748. Epub 2020 Mar 9 doi: 10.1161/CIRCGEN.119.002748. PMID: 32150461
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD
Am J Hum Genet 2002 Jun;70(6):1555-63. Epub 2002 May 1 doi: 10.1086/340847. PMID: 11992261Free PMC Article

Recent clinical studies

Etiology

Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J
BMC Cardiovasc Disord 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. PMID: 33673806Free PMC Article
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM
Heart 2015 Feb;101(4):294-301. Epub 2014 Oct 28 doi: 10.1136/heartjnl-2014-306387. PMID: 25351510Free PMC Article
Hershberger RE, Hedges DJ, Morales A
Nat Rev Cardiol 2013 Sep;10(9):531-47. Epub 2013 Jul 30 doi: 10.1038/nrcardio.2013.105. PMID: 23900355
Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program
Circ Cardiovasc Genet 2013 Aug;6(4):337-46. Epub 2013 Jul 16 doi: 10.1161/CIRCGENETICS.113.000039. PMID: 23861362Free PMC Article
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD
Am J Hum Genet 2002 Jun;70(6):1555-63. Epub 2002 May 1 doi: 10.1086/340847. PMID: 11992261Free PMC Article

Diagnosis

Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):440-451. Epub 2022 Nov 21 doi: 10.1002/ajmg.c.32014. PMID: 36408797
Bagnall RD, Singer ES, Wacker J, Nowak N, Ingles J, King I, Macciocca I, Crowe J, Ronan A, Weintraub RG, Semsarian C
Circ Genom Precis Med 2022 Dec;15(6):e003686. Epub 2022 Oct 11 doi: 10.1161/CIRCGEN.121.003686. PMID: 36252119
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J
BMC Cardiovasc Disord 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. PMID: 33673806Free PMC Article
Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, Dougherty K, Harrison SM, McGlaughon J, Milko LV, Morales A, Seifert BA, Strande N, Thomson K, Peter van Tintelen J, Wallace K, Walsh R, Wells Q, Whiffin N, Witkowski L, Semsarian C, Ware JS, Hershberger RE, Funke B
Circ Genom Precis Med 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460. PMID: 30681346Free PMC Article
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM
Heart 2015 Feb;101(4):294-301. Epub 2014 Oct 28 doi: 10.1136/heartjnl-2014-306387. PMID: 25351510Free PMC Article

Therapy

Jiang J, Zhang J, Kang M, Yang J
Medicine (Baltimore) 2019 Aug;98(33):e16838. doi: 10.1097/MD.0000000000016838. PMID: 31415406Free PMC Article
Yamamoto H, Hashimoto T, Kawamura S, Hiroe M, Yamashita T, Ando Y, Yokochi T
J Med Case Rep 2018 Dec 16;12(1):370. doi: 10.1186/s13256-018-1931-5. PMID: 30553273Free PMC Article
Damy T, Costes B, Hagège AA, Donal E, Eicher JC, Slama M, Guellich A, Rappeneau S, Gueffet JP, Logeart D, Planté-Bordeneuve V, Bouvaist H, Huttin O, Mulak G, Dubois-Randé JL, Goossens M, Canoui-Poitrine F, Buxbaum JN
Eur Heart J 2016 Jun 14;37(23):1826-34. Epub 2015 Nov 3 doi: 10.1093/eurheartj/ehv583. PMID: 26537620
Olde Nordkamp LR, Wilde AA, Tijssen JG, Knops RE, van Dessel PF, de Groot JR
Circ Arrhythm Electrophysiol 2013 Feb;6(1):91-100. Epub 2012 Dec 29 doi: 10.1161/CIRCEP.112.975268. PMID: 23275262
Hebbar AK, Hueston WJ
Am Fam Physician 2002 Jun 15;65(12):2491-6. PMID: 12086238

Prognosis

Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):440-451. Epub 2022 Nov 21 doi: 10.1002/ajmg.c.32014. PMID: 36408797
Bagnall RD, Singer ES, Wacker J, Nowak N, Ingles J, King I, Macciocca I, Crowe J, Ronan A, Weintraub RG, Semsarian C
Circ Genom Precis Med 2022 Dec;15(6):e003686. Epub 2022 Oct 11 doi: 10.1161/CIRCGEN.121.003686. PMID: 36252119
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J
BMC Cardiovasc Disord 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. PMID: 33673806Free PMC Article
Cheung CC, Laksman ZW, Mellor G, Sanatani S, Krahn AD
Can J Cardiol 2016 Apr;32(4):452-8. Epub 2016 Jan 14 doi: 10.1016/j.cjca.2016.01.007. PMID: 26927864
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM
Heart 2015 Feb;101(4):294-301. Epub 2014 Oct 28 doi: 10.1136/heartjnl-2014-306387. PMID: 25351510Free PMC Article

Clinical prediction guides

Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J
BMC Cardiovasc Disord 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. PMID: 33673806Free PMC Article
Refaat MM, Hotait M, London B
Curr Cardiol Rep 2015 Jul;17(7):606. doi: 10.1007/s11886-015-0606-8. PMID: 26026997
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM
Heart 2015 Feb;101(4):294-301. Epub 2014 Oct 28 doi: 10.1136/heartjnl-2014-306387. PMID: 25351510Free PMC Article
Hershberger RE, Hedges DJ, Morales A
Nat Rev Cardiol 2013 Sep;10(9):531-47. Epub 2013 Jul 30 doi: 10.1038/nrcardio.2013.105. PMID: 23900355
Sternick EB, Oliva A, Magalhães LP, Gerken LM, Hong K, Santana O, Brugada P, Brugada J, Brugada R
J Cardiovasc Electrophysiol 2006 Jul;17(7):724-32. doi: 10.1111/j.1540-8167.2006.00485.x. PMID: 16836667

Recent systematic reviews

Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Harmon KG, Zigman M, Drezner JA
J Electrocardiol 2015 May-Jun;48(3):329-38. Epub 2015 Feb 8 doi: 10.1016/j.jelectrocard.2015.02.001. PMID: 25701104

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