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Hypertrophic cardiomyopathy 9(CMH9)

MedGen UID:
348780
Concept ID:
C1861065
Disease or Syndrome
Synonym: Familial hypertrophic cardiomyopathy 9
 
Gene (location): TTN (2q31.2)
 
Monarch Initiative: MONDO:0013412
OMIM®: 613765

Definition

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene. [from MONDO]

Clinical features

From HPO
Hypertrophic cardiomyopathy
MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Bishev D, Fabara S, Loseke I, Alok A, Al-Ani H, Bazikian Y
Heart Lung Circ 2023 Sep;32(9):1049-1056. Epub 2023 Jul 14 doi: 10.1016/j.hlc.2023.05.019. PMID: 37453852
Teekakirikul P, Zhu W, Huang HC, Fung E
Biomolecules 2019 Dec 16;9(12) doi: 10.3390/biom9120878. PMID: 31888115Free PMC Article
Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Cirino AL, Fox JC, Lakdawala NK, Ware JS, Caleshu CA, Helms AS, Colan SD, Girolami F, Cecchi F, Seidman CE, Sajeev G, Signorovitch J, Green EM, Olivotto I
Circulation 2018 Oct 2;138(14):1387-1398. Epub 2018 Aug 23 doi: 10.1161/CIRCULATIONAHA.117.033200. PMID: 30297972Free PMC Article

Curated

Pinto YM, Wilde AA, van Rijsingen IA, Christiaans I, Deprez RH, Elliott PM
Eur J Hum Genet 2011 Aug;19(8) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.243. PMID: 21267010Free PMC Article

Recent clinical studies

Therapy

Bishev D, Fabara S, Loseke I, Alok A, Al-Ani H, Bazikian Y
Heart Lung Circ 2023 Sep;32(9):1049-1056. Epub 2023 Jul 14 doi: 10.1016/j.hlc.2023.05.019. PMID: 37453852
Desai MY, Owens A, Geske JB, Wolski K, Naidu SS, Smedira NG, Cremer PC, Schaff H, McErlean E, Sewell C, Li W, Sterling L, Lampl K, Edelberg JM, Sehnert AJ, Nissen SE
J Am Coll Cardiol 2022 Jul 12;80(2):95-108. doi: 10.1016/j.jacc.2022.04.048. PMID: 35798455
Olivotto I, Oreziak A, Barriales-Villa R, Abraham TP, Masri A, Garcia-Pavia P, Saberi S, Lakdawala NK, Wheeler MT, Owens A, Kubanek M, Wojakowski W, Jensen MK, Gimeno-Blanes J, Afshar K, Myers J, Hegde SM, Solomon SD, Sehnert AJ, Zhang D, Li W, Bhattacharya M, Edelberg JM, Waldman CB, Lester SJ, Wang A, Ho CY, Jacoby D; EXPLORER-HCM study investigators
Lancet 2020 Sep 12;396(10253):759-769. Epub 2020 Aug 29 doi: 10.1016/S0140-6736(20)31792-X. PMID: 32871100
Teekakirikul P, Zhu W, Huang HC, Fung E
Biomolecules 2019 Dec 16;9(12) doi: 10.3390/biom9120878. PMID: 31888115Free PMC Article
Heitner SB, Jacoby D, Lester SJ, Owens A, Wang A, Zhang D, Lambing J, Lee J, Semigran M, Sehnert AJ
Ann Intern Med 2019 Jun 4;170(11):741-748. Epub 2019 Apr 30 doi: 10.7326/M18-3016. PMID: 31035291

Prognosis

Lorenzini M, Norrish G, Field E, Ochoa JP, Cicerchia M, Akhtar MM, Syrris P, Lopes LR, Kaski JP, Elliott PM
J Am Coll Cardiol 2020 Aug 4;76(5):550-559. doi: 10.1016/j.jacc.2020.06.011. PMID: 32731933Free PMC Article
Neubauer S, Kolm P, Ho CY, Kwong RY, Desai MY, Dolman SF, Appelbaum E, Desvigne-Nickens P, DiMarco JP, Friedrich MG, Geller N, Harper AR, Jarolim P, Jerosch-Herold M, Kim DY, Maron MS, Schulz-Menger J, Piechnik SK, Thomson K, Zhang C, Watkins H, Weintraub WS, Kramer CM; HCMR Investigators
J Am Coll Cardiol 2019 Nov 12;74(19):2333-2345. doi: 10.1016/j.jacc.2019.08.1057. PMID: 31699273Free PMC Article
Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Cirino AL, Fox JC, Lakdawala NK, Ware JS, Caleshu CA, Helms AS, Colan SD, Girolami F, Cecchi F, Seidman CE, Sajeev G, Signorovitch J, Green EM, Olivotto I
Circulation 2018 Oct 2;138(14):1387-1398. Epub 2018 Aug 23 doi: 10.1161/CIRCULATIONAHA.117.033200. PMID: 30297972Free PMC Article
Wang J, Wang Y, Zou Y, Sun K, Wang Z, Ding H, Yuan J, Wei W, Hou Q, Wang H, Liu X, Zhang H, Ji Y, Zhou X, Sharma RK, Wang D, Ahmad F, Hui R, Song L
Eur J Heart Fail 2014 Sep;16(9):950-7. Epub 2014 Jul 31 doi: 10.1002/ejhf.144. PMID: 25132132
Bos JM, Will ML, Gersh BJ, Kruisselbrink TM, Ommen SR, Ackerman MJ
Mayo Clin Proc 2014 Jun;89(6):727-37. Epub 2014 May 1 doi: 10.1016/j.mayocp.2014.01.025. PMID: 24793961Free PMC Article

Clinical prediction guides

Bishev D, Fabara S, Loseke I, Alok A, Al-Ani H, Bazikian Y
Heart Lung Circ 2023 Sep;32(9):1049-1056. Epub 2023 Jul 14 doi: 10.1016/j.hlc.2023.05.019. PMID: 37453852
Lorenzini M, Norrish G, Field E, Ochoa JP, Cicerchia M, Akhtar MM, Syrris P, Lopes LR, Kaski JP, Elliott PM
J Am Coll Cardiol 2020 Aug 4;76(5):550-559. doi: 10.1016/j.jacc.2020.06.011. PMID: 32731933Free PMC Article
Neubauer S, Kolm P, Ho CY, Kwong RY, Desai MY, Dolman SF, Appelbaum E, Desvigne-Nickens P, DiMarco JP, Friedrich MG, Geller N, Harper AR, Jarolim P, Jerosch-Herold M, Kim DY, Maron MS, Schulz-Menger J, Piechnik SK, Thomson K, Zhang C, Watkins H, Weintraub WS, Kramer CM; HCMR Investigators
J Am Coll Cardiol 2019 Nov 12;74(19):2333-2345. doi: 10.1016/j.jacc.2019.08.1057. PMID: 31699273Free PMC Article
Zhang J, Gajjala S, Agrawal P, Tison GH, Hallock LA, Beussink-Nelson L, Lassen MH, Fan E, Aras MA, Jordan C, Fleischmann KE, Melisko M, Qasim A, Shah SJ, Bajcsy R, Deo RC
Circulation 2018 Oct 16;138(16):1623-1635. doi: 10.1161/CIRCULATIONAHA.118.034338. PMID: 30354459Free PMC Article
Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Cirino AL, Fox JC, Lakdawala NK, Ware JS, Caleshu CA, Helms AS, Colan SD, Girolami F, Cecchi F, Seidman CE, Sajeev G, Signorovitch J, Green EM, Olivotto I
Circulation 2018 Oct 2;138(14):1387-1398. Epub 2018 Aug 23 doi: 10.1161/CIRCULATIONAHA.117.033200. PMID: 30297972Free PMC Article

Recent systematic reviews

Bishev D, Fabara S, Loseke I, Alok A, Al-Ani H, Bazikian Y
Heart Lung Circ 2023 Sep;32(9):1049-1056. Epub 2023 Jul 14 doi: 10.1016/j.hlc.2023.05.019. PMID: 37453852
Antonopoulos AS, Panagiotopoulos I, Kouroutzoglou A, Koutsis G, Toskas P, Lazaros G, Toutouzas K, Tousoulis D, Tsioufis K, Vlachopoulos C
Eur J Heart Fail 2022 Sep;24(9):1677-1696. Epub 2022 Aug 2 doi: 10.1002/ejhf.2589. PMID: 35730461
Aimo A, Merlo M, Porcari A, Georgiopoulos G, Pagura L, Vergaro G, Sinagra G, Emdin M, Rapezzi C
Eur J Heart Fail 2022 Dec;24(12):2342-2351. Epub 2022 May 16 doi: 10.1002/ejhf.2532. PMID: 35509173Free PMC Article
D'Ascenzi F, Valentini F, Pistoresi S, Frascaro F, Piu P, Cavigli L, Valente S, Focardi M, Cameli M, Bonifazi M, Metra M, Mondillo S
Trends Cardiovasc Med 2022 Jul;32(5):299-308. Epub 2021 Jun 22 doi: 10.1016/j.tcm.2021.06.001. PMID: 34166791
Ramaswamy VV, Bandyopadhyay T, Nanda D, Bandiya P, Ahmed J, Garg A, Roehr CC, Nangia S
JAMA Pediatr 2021 Jun 1;175(6):e206826. Epub 2021 Jun 7 doi: 10.1001/jamapediatrics.2020.6826. PMID: 33720274Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • EuroGenetest, 2011
      Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

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