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Hypertrophic cardiomyopathy 12(CMH12)

MedGen UID:
393755
•Concept ID:
C2677491
•
Disease or Syndrome
Synonym: Familial hypertrophic cardiomyopathy 12
 
Gene (location): CSRP3 (11p15.1)
 
Monarch Initiative: MONDO:0012804
OMIM®: 612124

Definition

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene. [from MONDO]

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
•Concept ID:
C0085298
•
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
See: Feature record | Search on this feature
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
Ventricular tachycardia
MedGen UID:
12068
•Concept ID:
C0042514
•
Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
See: Feature record | Search on this feature
Paroxysmal atrial fibrillation
MedGen UID:
115990
•Concept ID:
C0235480
•
Disease or Syndrome
Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
See: Feature record | Search on this feature
Ventricular septal hypertrophy
MedGen UID:
138013
•Concept ID:
C0344955
•
Finding
The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.
See: Feature record | Search on this feature
Reduced left ventricular endsystolic diameter
MedGen UID:
1815109
•Concept ID:
C5706203
•
Finding
A lower than normal left ventricular endsystolic diameter.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Incidence, risk assessment and prevention of sudden cardiac death in cardiomyopathies.
Polovina M, Tschöpe C, Rosano G, Metra M, Crea F, Mullens W, Bauersachs J, Sliwa K, de Boer RA, Farmakis D, Thum T, Corrado D, Bayes-Genis A, Bozkurt B, Filippatos G, Keren A, Skouri H, Moura B, Volterrani M, Abdelhamid M, Ašanin M, Krljanac G, Tomić M, Savarese G, Adamo M, Lopatin Y, Chioncel O, Coats AJS, Seferović PM
Eur J Heart Fail 2023 Dec;25(12):2144-2163. Epub 2023 Nov 14 doi: 10.1002/ejhf.3076. PMID: 37905371
Discovery of Aficamten (CK-274), a Next-Generation Cardiac Myosin Inhibitor for the Treatment of Hypertrophic Cardiomyopathy.
Chuang C, Collibee S, Ashcraft L, Wang W, Vander Wal M, Wang X, Hwee DT, Wu Y, Wang J, Chin ER, Cremin P, Zamora J, Hartman J, Schaletzky J, Wehri E, Robertson LA, Malik FI, Morgan BP
J Med Chem 2021 Oct 14;64(19):14142-14152. Epub 2021 Oct 4 doi: 10.1021/acs.jmedchem.1c01290. PMID: 34606259
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

Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.
Topriceanu CC, Pereira AC, Moon JC, Captur G, Ho CY
Circulation 2024 Jan 9;149(2):107-123. Epub 2023 Nov 6 doi: 10.1161/CIRCULATIONAHA.123.065987. PMID: 37929589Free 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
The electrocardiogram and the phenotypic expression of hypertrophic cardiomyopathy.
Caselli S, Pelliccia A
Eur Heart J 2019 Mar 21;40(12):982-985. doi: 10.1093/eurheartj/ehy403. PMID: 30010740
New perspectives on the prevalence of hypertrophic cardiomyopathy.
Semsarian C, Ingles J, Maron MS, Maron BJ
J Am Coll Cardiol 2015 Mar 31;65(12):1249-1254. doi: 10.1016/j.jacc.2015.01.019. PMID: 25814232
Arrhythmias and sudden death in hypertrophic cardiomyopathy.
McKenna WJ, Firoozi S, Sharma S
Card Electrophysiol Rev 2002 Feb;6(1-2):26-31. doi: 10.1023/a:1017966518021. PMID: 11984011

Diagnosis

Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.
Topriceanu CC, Pereira AC, Moon JC, Captur G, Ho CY
Circulation 2024 Jan 9;149(2):107-123. Epub 2023 Nov 6 doi: 10.1161/CIRCULATIONAHA.123.065987. PMID: 37929589Free 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
Trading Lives.
DeFilippis EM, Kittleson MM
Am J Med 2019 Dec;132(12):1486-1487. Epub 2019 Jul 24 doi: 10.1016/j.amjmed.2019.06.041. PMID: 31348894
New perspectives on the prevalence of hypertrophic cardiomyopathy.
Semsarian C, Ingles J, Maron MS, Maron BJ
J Am Coll Cardiol 2015 Mar 31;65(12):1249-1254. doi: 10.1016/j.jacc.2015.01.019. PMID: 25814232
The athlete's heart.
Prior DL, La Gerche A
Heart 2012 Jun;98(12):947-55. doi: 10.1136/heartjnl-2011-301329. PMID: 22626903

Therapy

Aficamten for Symptomatic Obstructive Hypertrophic Cardiomyopathy.
Maron MS, Masri A, Nassif ME, Barriales-Villa R, Arad M, Cardim N, Choudhury L, Claggett B, Coats CJ, Düngen HD, Garcia-Pavia P, Hagège AA, Januzzi JL, Lee MMY, Lewis GD, Ma CS, Michels M, Olivotto I, Oreziak A, Owens AT, Spertus JA, Solomon SD, Tfelt-Hansen J, van Sinttruije M, Veselka J, Watkins H, Jacoby DL, Heitner SB, Kupfer S, Malik FI, Meng L, Wohltman A, Abraham TP; SEQUOIA-HCM Investigators
N Engl J Med 2024 May 30;390(20):1849-1861. Epub 2024 May 13 doi: 10.1056/NEJMoa2401424. PMID: 38739079
Aficamten: A Breakthrough Therapy for Symptomatic Obstructive Hypertrophic Cardiomyopathy.
Sebastian SA, Padda I, Lehr EJ, Johal G
Am J Cardiovasc Drugs 2023 Sep;23(5):519-532. Epub 2023 Aug 1 doi: 10.1007/s40256-023-00599-0. PMID: 37526885
Discovery of Aficamten (CK-274), a Next-Generation Cardiac Myosin Inhibitor for the Treatment of Hypertrophic Cardiomyopathy.
Chuang C, Collibee S, Ashcraft L, Wang W, Vander Wal M, Wang X, Hwee DT, Wu Y, Wang J, Chin ER, Cremin P, Zamora J, Hartman J, Schaletzky J, Wehri E, Robertson LA, Malik FI, Morgan BP
J Med Chem 2021 Oct 14;64(19):14142-14152. Epub 2021 Oct 4 doi: 10.1021/acs.jmedchem.1c01290. PMID: 34606259
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

The electrocardiogram and the phenotypic expression of hypertrophic cardiomyopathy.
Caselli S, Pelliccia A
Eur Heart J 2019 Mar 21;40(12):982-985. doi: 10.1093/eurheartj/ehy403. PMID: 30010740
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
Apical hypertrophic cardiomyopathy: Present status.
Jan MF, Todaro MC, Oreto L, Tajik AJ
Int J Cardiol 2016 Nov 1;222:745-759. Epub 2016 Jul 28 doi: 10.1016/j.ijcard.2016.07.154. PMID: 27521551
The athlete's heart.
Prior DL, La Gerche A
Heart 2012 Jun;98(12):947-55. doi: 10.1136/heartjnl-2011-301329. PMID: 22626903
Hypertrophic cardiomyopathy--continued progress.
Braunwald E
N Engl J Med 1989 Mar 23;320(12):800-2. doi: 10.1056/NEJM198903233201209. PMID: 2537930

Clinical prediction guides

Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.
Topriceanu CC, Pereira AC, Moon JC, Captur G, Ho CY
Circulation 2024 Jan 9;149(2):107-123. Epub 2023 Nov 6 doi: 10.1161/CIRCULATIONAHA.123.065987. PMID: 37929589Free PMC Article
Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy.
Ning C, Fan L, Jin M, Wang W, Hu Z, Cai Y, Chen L, Lu Z, Zhang M, Chen C, Li Y, Zhang F, Wang W, Liu Y, Chen S, Jiang Y, He C, Wang Z, Chen X, Li H, Li G, Ma Q, Geng H, Tian W, Zhang H, Liu B, Xia Q, Yang X, Liu Z, Li B, Zhu Y, Li X, Zhang S, Tian J, Miao X
Nat Commun 2023 Nov 30;14(1):7900. doi: 10.1038/s41467-023-43771-5. PMID: 38036550Free PMC Article
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
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Thompson AD, Helms AS, Kannan A, Yob J, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Mazzarotto F, Olivotto I, Ho CY, Day SM
Genet Med 2021 Jul;23(7):1281-1287. Epub 2021 Mar 29 doi: 10.1038/s41436-021-01134-9. PMID: 33782553Free PMC Article
Update on hypertrophic cardiomyopathy and a guide to the guidelines.
Sen-Chowdhry S, Jacoby D, Moon JC, McKenna WJ
Nat Rev Cardiol 2016 Nov;13(11):651-675. Epub 2016 Sep 29 doi: 10.1038/nrcardio.2016.140. PMID: 27681577

Recent systematic reviews

Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.
Topriceanu CC, Pereira AC, Moon JC, Captur G, Ho CY
Circulation 2024 Jan 9;149(2):107-123. Epub 2023 Nov 6 doi: 10.1161/CIRCULATIONAHA.123.065987. PMID: 37929589Free PMC Article
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Monda E, Diana G, Graziani F, Rubino M, Bakalakos A, Linhart A, Germain DP, Scarpa M, Biagini E, Pieroni M, Elliott PM, Limongelli G
Circ Genom Precis Med 2023 Dec;16(6):e004252. Epub 2023 Dec 4 doi: 10.1161/CIRCGEN.123.004252. PMID: 38047356
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
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
    • 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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