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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

Efficacy and Safety of Mavacamten in the Treatment of Hypertrophic Cardiomyopathy: A Systematic Review.
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
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.
Stava TT, Leren TP, Bogsrud MP
Eur J Prev Cardiol 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. PMID: 35653365
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

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

Assessment of late gadolinium enhancement in hypertrophic cardiomyopathy improves risk stratification based on current guidelines.
Wang J, Yang S, Ma X, Zhao K, Yang K, Yu S, Yin G, Dong Z, Song Y, Cui C, Li J, Wang C, Hao J, Lu M, Chen X, Zhao S
Eur Heart J 2023 Dec 1;44(45):4781-4792. doi: 10.1093/eurheartj/ehad581. PMID: 37795986
Mavacamten, a precision medicine for hypertrophic cardiomyopathy: From a motor protein to patients.
Nag S, Gollapudi SK, Del Rio CL, Spudich JA, McDowell R
Sci Adv 2023 Jul 28;9(30):eabo7622. doi: 10.1126/sciadv.abo7622. PMID: 37506209
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
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
Murphy SL, Anderson JH, Kapplinger JD, Kruisselbrink TM, Gersh BJ, Ommen SR, Ackerman MJ, Bos JM
J Cardiovasc Transl Res 2016 Apr;9(2):153-61. Epub 2016 Feb 25 doi: 10.1007/s12265-016-9681-5. PMID: 26914223Free PMC Article

Diagnosis

Phase 2 Study of Aficamten in Patients With Obstructive Hypertrophic Cardiomyopathy.
Maron MS, Masri A, Choudhury L, Olivotto I, Saberi S, Wang A, Garcia-Pavia P, Lakdawala NK, Nagueh SF, Rader F, Tower-Rader A, Turer AT, Coats C, Fifer MA, Owens A, Solomon SD, Watkins H, Barriales-Villa R, Kramer CM, Wong TC, Paige SL, Heitner SB, Kupfer S, Malik FI, Meng L, Wohltman A, Abraham T; REDWOOD-HCM Steering Committee and Investigators
J Am Coll Cardiol 2023 Jan 3;81(1):34-45. doi: 10.1016/j.jacc.2022.10.020. PMID: 36599608
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
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
Murphy SL, Anderson JH, Kapplinger JD, Kruisselbrink TM, Gersh BJ, Ommen SR, Ackerman MJ, Bos JM
J Cardiovasc Transl Res 2016 Apr;9(2):153-61. Epub 2016 Feb 25 doi: 10.1007/s12265-016-9681-5. PMID: 26914223Free PMC Article

Therapy

Mavacamten, a precision medicine for hypertrophic cardiomyopathy: From a motor protein to patients.
Nag S, Gollapudi SK, Del Rio CL, Spudich JA, McDowell R
Sci Adv 2023 Jul 28;9(30):eabo7622. doi: 10.1126/sciadv.abo7622. PMID: 37506209
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
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
Mavacamten Treatment for Obstructive Hypertrophic Cardiomyopathy: A Clinical Trial.
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

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
Atrial Fibrillation in Hypertrophic Cardiomyopathy.
Vaidya K, Semsarian C, Chan KH
Heart Lung Circ 2017 Sep;26(9):975-982. Epub 2017 May 23 doi: 10.1016/j.hlc.2017.05.116. PMID: 28602671
Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.
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

Clinical prediction guides

Efficacy and Safety of Mavacamten in the Treatment of Hypertrophic Cardiomyopathy: A Systematic Review.
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
Phase 2 Study of Aficamten in Patients With Obstructive Hypertrophic Cardiomyopathy.
Maron MS, Masri A, Choudhury L, Olivotto I, Saberi S, Wang A, Garcia-Pavia P, Lakdawala NK, Nagueh SF, Rader F, Tower-Rader A, Turer AT, Coats C, Fifer MA, Owens A, Solomon SD, Watkins H, Barriales-Villa R, Kramer CM, Wong TC, Paige SL, Heitner SB, Kupfer S, Malik FI, Meng L, Wohltman A, Abraham T; REDWOOD-HCM Steering Committee and Investigators
J Am Coll Cardiol 2023 Jan 3;81(1):34-45. doi: 10.1016/j.jacc.2022.10.020. PMID: 36599608
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
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
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

Recent systematic reviews

Efficacy and Safety of Mavacamten in the Treatment of Hypertrophic Cardiomyopathy: A Systematic Review.
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
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

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).

    Consumer resources

    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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