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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.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S
Mol Genet Genomic Med 2021 May;9(5):e1666. Epub 2021 Apr 9 doi: 10.1002/mgg3.1666. PMID: 33835733Free PMC Article
Hypertrophic Cardiomyopathy: An Overview of Genetics and Management.
Teekakirikul P, Zhu W, Huang HC, Fung E
Biomolecules 2019 Dec 16;9(12) doi: 10.3390/biom9120878. PMID: 31888115Free PMC Article
Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM; ACMG Professional Practice and Guidelines Committee
Genet Med 2018 Sep;20(9):899-909. Epub 2018 Jun 14 doi: 10.1038/s41436-018-0039-z. PMID: 29904160

Curated

Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
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

Etiology

Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy.
Norrish G, Cleary A, Field E, Cervi E, Boleti O, Ziółkowska L, Olivotto I, Khraiche D, Limongelli G, Anastasakis A, Weintraub R, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernandez A, Marrone C, Bökenkamp R, Baban A, Kubus P, Daubeney PEF, Sarquella-Brugada G, Cesar S, Klaassen S, Ojala TH, Bhole V, Medrano C, Uzun O, Brown E, Gran F, Sinagra G, Castro FJ, Stuart G, Yamazawa H, Barriales-Villa R, Garcia-Guereta L, Adwani S, Linter K, Bharucha T, Gonzales-Lopez E, Siles A, Rasmussen TB, Calcagnino M, Jones CB, De Wilde H, Kubo T, Felice T, Popoiu A, Mogensen J, Mathur S, Centeno F, Reinhardt Z, Schouvey S, Elliott PM, Kaski JP
J Am Coll Cardiol 2022 May 24;79(20):1986-1997. doi: 10.1016/j.jacc.2022.03.347. PMID: 35589160Free PMC Article
Patterns of Replacement Fibrosis in Hypertrophic Cardiomyopathy.
Liu J, Zhao S, Yu S, Wu G, Wang D, Liu L, Song J, Zhu Y, Kang L, Wang J, Song L
Radiology 2022 Feb;302(2):298-306. Epub 2021 Nov 2 doi: 10.1148/radiol.2021210914. PMID: 34726536
RBM20 Is a Candidate Gene for Hypertrophic Cardiomyopathy.
Dai J, Li Z, Huang W, Chen P, Sun Y, Wang H, Wu D, Chen Y, Li C, Xiao L, Liu H, Wei H, Li R, Duan Q, Peng L, Song X, Yu T, Wang Y, Wang DW
Can J Cardiol 2021 Nov;37(11):1751-1759. Epub 2021 Jul 29 doi: 10.1016/j.cjca.2021.07.014. PMID: 34333030
Hypertrophic Cardiomyopathy: An Overview of Genetics and Management.
Teekakirikul P, Zhu W, Huang HC, Fung E
Biomolecules 2019 Dec 16;9(12) doi: 10.3390/biom9120878. PMID: 31888115Free PMC Article
Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry.
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

Diagnosis

Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy.
Norrish G, Cleary A, Field E, Cervi E, Boleti O, Ziółkowska L, Olivotto I, Khraiche D, Limongelli G, Anastasakis A, Weintraub R, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernandez A, Marrone C, Bökenkamp R, Baban A, Kubus P, Daubeney PEF, Sarquella-Brugada G, Cesar S, Klaassen S, Ojala TH, Bhole V, Medrano C, Uzun O, Brown E, Gran F, Sinagra G, Castro FJ, Stuart G, Yamazawa H, Barriales-Villa R, Garcia-Guereta L, Adwani S, Linter K, Bharucha T, Gonzales-Lopez E, Siles A, Rasmussen TB, Calcagnino M, Jones CB, De Wilde H, Kubo T, Felice T, Popoiu A, Mogensen J, Mathur S, Centeno F, Reinhardt Z, Schouvey S, Elliott PM, Kaski JP
J Am Coll Cardiol 2022 May 24;79(20):1986-1997. doi: 10.1016/j.jacc.2022.03.347. PMID: 35589160Free PMC Article
RBM20 Is a Candidate Gene for Hypertrophic Cardiomyopathy.
Dai J, Li Z, Huang W, Chen P, Sun Y, Wang H, Wu D, Chen Y, Li C, Xiao L, Liu H, Wei H, Li R, Duan Q, Peng L, Song X, Yu T, Wang Y, Wang DW
Can J Cardiol 2021 Nov;37(11):1751-1759. Epub 2021 Jul 29 doi: 10.1016/j.cjca.2021.07.014. PMID: 34333030
Apical Hypertrophic Cardiomyopathy: The Variant Less Known.
Hughes RK, Knott KD, Malcolmson J, Augusto JB, Mohiddin SA, Kellman P, Moon JC, Captur G
J Am Heart Assoc 2020 Mar 3;9(5):e015294. Epub 2020 Feb 28 doi: 10.1161/JAHA.119.015294. PMID: 32106746Free PMC Article
Hypertrophic Cardiomyopathy: An Overview of Genetics and Management.
Teekakirikul P, Zhu W, Huang HC, Fung E
Biomolecules 2019 Dec 16;9(12) doi: 10.3390/biom9120878. PMID: 31888115Free PMC Article
Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry.
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

Therapy

Myosin Inhibition in Patients With Obstructive Hypertrophic Cardiomyopathy Referred for Septal Reduction Therapy.
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
Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy.
Norrish G, Cleary A, Field E, Cervi E, Boleti O, Ziółkowska L, Olivotto I, Khraiche D, Limongelli G, Anastasakis A, Weintraub R, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernandez A, Marrone C, Bökenkamp R, Baban A, Kubus P, Daubeney PEF, Sarquella-Brugada G, Cesar S, Klaassen S, Ojala TH, Bhole V, Medrano C, Uzun O, Brown E, Gran F, Sinagra G, Castro FJ, Stuart G, Yamazawa H, Barriales-Villa R, Garcia-Guereta L, Adwani S, Linter K, Bharucha T, Gonzales-Lopez E, Siles A, Rasmussen TB, Calcagnino M, Jones CB, De Wilde H, Kubo T, Felice T, Popoiu A, Mogensen J, Mathur S, Centeno F, Reinhardt Z, Schouvey S, Elliott PM, Kaski JP
J Am Coll Cardiol 2022 May 24;79(20):1986-1997. doi: 10.1016/j.jacc.2022.03.347. PMID: 35589160Free PMC Article
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.
Harper AR, Goel A, Grace C, Thomson KL, Petersen SE, Xu X, Waring A, Ormondroyd E, Kramer CM, Ho CY, Neubauer S; HCMR Investigators, Tadros R, Ware JS, Bezzina CR, Farrall M, Watkins H
Nat Genet 2021 Feb;53(2):135-142. Epub 2021 Jan 25 doi: 10.1038/s41588-020-00764-0. PMID: 33495597Free PMC Article
Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial.
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
Hypertrophic Cardiomyopathy: An Overview of Genetics and Management.
Teekakirikul P, Zhu W, Huang HC, Fung E
Biomolecules 2019 Dec 16;9(12) doi: 10.3390/biom9120878. PMID: 31888115Free PMC Article

Prognosis

RBM20 Is a Candidate Gene for Hypertrophic Cardiomyopathy.
Dai J, Li Z, Huang W, Chen P, Sun Y, Wang H, Wu D, Chen Y, Li C, Xiao L, Liu H, Wei H, Li R, Duan Q, Peng L, Song X, Yu T, Wang Y, Wang DW
Can J Cardiol 2021 Nov;37(11):1751-1759. Epub 2021 Jul 29 doi: 10.1016/j.cjca.2021.07.014. PMID: 34333030
Progression of Myocardial Fibrosis in Hypertrophic Cardiomyopathy: A Cardiac Magnetic Resonance Study.
Habib M, Adler A, Fardfini K, Hoss S, Hanneman K, Rowin EJ, Maron MS, Maron BJ, Rakowski H, Chan RH
JACC Cardiovasc Imaging 2021 May;14(5):947-958. Epub 2020 Nov 25 doi: 10.1016/j.jcmg.2020.09.037. PMID: 33248971
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.
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
Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry.
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
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).
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

Clinical prediction guides

Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy.
Norrish G, Cleary A, Field E, Cervi E, Boleti O, Ziółkowska L, Olivotto I, Khraiche D, Limongelli G, Anastasakis A, Weintraub R, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernandez A, Marrone C, Bökenkamp R, Baban A, Kubus P, Daubeney PEF, Sarquella-Brugada G, Cesar S, Klaassen S, Ojala TH, Bhole V, Medrano C, Uzun O, Brown E, Gran F, Sinagra G, Castro FJ, Stuart G, Yamazawa H, Barriales-Villa R, Garcia-Guereta L, Adwani S, Linter K, Bharucha T, Gonzales-Lopez E, Siles A, Rasmussen TB, Calcagnino M, Jones CB, De Wilde H, Kubo T, Felice T, Popoiu A, Mogensen J, Mathur S, Centeno F, Reinhardt Z, Schouvey S, Elliott PM, Kaski JP
J Am Coll Cardiol 2022 May 24;79(20):1986-1997. doi: 10.1016/j.jacc.2022.03.347. PMID: 35589160Free PMC Article
Patterns of Replacement Fibrosis in Hypertrophic Cardiomyopathy.
Liu J, Zhao S, Yu S, Wu G, Wang D, Liu L, Song J, Zhu Y, Kang L, Wang J, Song L
Radiology 2022 Feb;302(2):298-306. Epub 2021 Nov 2 doi: 10.1148/radiol.2021210914. PMID: 34726536
Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry.
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
Fully Automated Echocardiogram Interpretation in Clinical Practice.
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
Prognostic Value of LGE-CMR in HCM: A Meta-Analysis.
Weng Z, Yao J, Chan RH, He J, Yang X, Zhou Y, He Y
JACC Cardiovasc Imaging 2016 Dec;9(12):1392-1402. Epub 2016 Jul 20 doi: 10.1016/j.jcmg.2016.02.031. PMID: 27450876

Recent systematic reviews

Prevalence and clinical outcomes of transthyretin amyloidosis: a systematic review and meta-analysis.
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
Redefining the epidemiology of cardiac amyloidosis. A systematic review and meta-analysis of screening studies.
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
Causes of sudden cardiac death in young athletes and non-athletes: systematic review and meta-analysis: Sudden cardiac death in the young.
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
Assessment of Postnatal Corticosteroids for the Prevention of Bronchopulmonary Dysplasia in Preterm Neonates: A Systematic Review and Network Meta-analysis.
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
Sudden cardiac death in athletes: the Lausanne Recommendations.
Bille K, Figueiras D, Schamasch P, Kappenberger L, Brenner JI, Meijboom FJ, Meijboom EJ
Eur J Cardiovasc Prev Rehabil 2006 Dec;13(6):859-75. doi: 10.1097/01.hjr.0000238397.50341.4a. PMID: 17143117

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).

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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