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Hypertrophic cardiomyopathy 8(CMH8)

MedGen UID:
324806
Concept ID:
C1837471
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 1; Familial hypertrophic cardiomyopathy 8; MYL3-Related Familial Hypertrophic Cardiomyopathy
 
Gene (location): MYL3 (3p21.31)
 
Monarch Initiative: MONDO:0012111
OMIM®: 608751

Definition

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 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).
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.
Restrictive cardiomyopathy
MedGen UID:
40111
Concept ID:
C0007196
Disease or Syndrome
Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.
Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
An abrupt loss of heart function.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Ventricular fibrillation
MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.
T-wave inversion
MedGen UID:
105467
Concept ID:
C0520888
Finding
An inversion of the T-wave (which is normally positive).
Endomyocardial fibrosis
MedGen UID:
107513
Concept ID:
C0553980
Finding
The presence of excessive connective tissue in the endocardium.
Reduced left ventricular ejection fraction
MedGen UID:
868398
Concept ID:
C4022792
Finding
A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.
Exertional dyspnea
MedGen UID:
68549
Concept ID:
C0231807
Sign or Symptom
Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Curran L, de Marvao A, Inglese P, McGurk KA, Schiratti PR, Clement A, Zheng SL, Li S, Pua CJ, Shah M, Jafari M, Theotokis P, Buchan RJ, Jurgens SJ, Raphael CE, Baksi AJ, Pantazis A, Halliday BP, Pennell DJ, Bai W, Chin CWL, Tadros R, Bezzina CR, Watkins H, Cook SA, Prasad SK, Ware JS, O'Regan DP
Circ Genom Precis Med 2023 Dec;16(6):e004200. Epub 2023 Nov 28 doi: 10.1161/CIRCGEN.123.004200. PMID: 38014537Free PMC Article
Wanert C, El Louali F, Al Dybiat S, Nguyen K, Zaffran S, Ovaert C
Arch Cardiovasc Dis 2023 Jun-Jul;116(6-7):309-315. Epub 2023 May 16 doi: 10.1016/j.acvd.2023.04.008. PMID: 37246080
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

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

Etiology

Wasserstrum Y, Larrañaga-Moreira JM, Martinez-Veira C, Itelman E, Lotan D, Sabbag A, Kuperstein R, Peled Y, Freimark D, Barriales-Villa R, Arad M
ESC Heart Fail 2022 Aug;9(4):2301-2312. Epub 2022 Apr 30 doi: 10.1002/ehf2.13914. PMID: 35488723Free PMC Article
Ji Q, Wang Y, Liu F, Yang Y, Xia L, Ding W, Lai H, Wang C
J Cardiol 2022 Jan;79(1):42-49. Epub 2021 Sep 20 doi: 10.1016/j.jjcc.2021.09.002. PMID: 34551867
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
Basu J, Malhotra A, Papadakis M
Clin Cardiol 2020 Aug;43(8):889-896. Epub 2020 Feb 12 doi: 10.1002/clc.23343. PMID: 32048747Free PMC Article
Marrakchi S, Kammoun I, Bennour E, Laroussi L, Kachboura S
Herz 2020 Feb;45(1):50-64. Epub 2018 Apr 25 doi: 10.1007/s00059-018-4700-8. PMID: 29696341

Diagnosis

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
Wasserstrum Y, Larrañaga-Moreira JM, Martinez-Veira C, Itelman E, Lotan D, Sabbag A, Kuperstein R, Peled Y, Freimark D, Barriales-Villa R, Arad M
ESC Heart Fail 2022 Aug;9(4):2301-2312. Epub 2022 Apr 30 doi: 10.1002/ehf2.13914. PMID: 35488723Free PMC Article
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
Ellims AH
Aust Fam Physician 2017;46(8):553-557. PMID: 28787553
Maron BJ
Am J Cardiol 2009 Oct 15;104(8):1158-9. Epub 2009 Aug 28 doi: 10.1016/j.amjcard.2009.05.064. PMID: 19801041

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
Hegde SM, Lester SJ, Solomon SD, Michels M, Elliott PM, Nagueh SF, Choudhury L, Zemanek D, Zwas DR, Jacoby D, Wang A, Ho CY, Li W, Sehnert AJ, Olivotto I, Abraham TP
J Am Coll Cardiol 2021 Dec 21;78(25):2518-2532. doi: 10.1016/j.jacc.2021.09.1381. PMID: 34915982
Dybro AM, Rasmussen TB, Nielsen RR, Andersen MJ, Jensen MK, Poulsen SH
J Am Coll Cardiol 2021 Dec 21;78(25):2505-2517. doi: 10.1016/j.jacc.2021.07.065. PMID: 34915981
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
Ho CY, Mealiffe ME, Bach RG, Bhattacharya M, Choudhury L, Edelberg JM, Hegde SM, Jacoby D, Lakdawala NK, Lester SJ, Ma Y, Marian AJ, Nagueh SF, Owens A, Rader F, Saberi S, Sehnert AJ, Sherrid MV, Solomon SD, Wang A, Wever-Pinzon O, Wong TC, Heitner SB
J Am Coll Cardiol 2020 Jun 2;75(21):2649-2660. doi: 10.1016/j.jacc.2020.03.064. PMID: 32466879

Prognosis

Wasserstrum Y, Larrañaga-Moreira JM, Martinez-Veira C, Itelman E, Lotan D, Sabbag A, Kuperstein R, Peled Y, Freimark D, Barriales-Villa R, Arad M
ESC Heart Fail 2022 Aug;9(4):2301-2312. Epub 2022 Apr 30 doi: 10.1002/ehf2.13914. PMID: 35488723Free PMC Article
Basu J, Malhotra A, Papadakis M
Clin Cardiol 2020 Aug;43(8):889-896. Epub 2020 Feb 12 doi: 10.1002/clc.23343. PMID: 32048747Free 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
Sabater-Molina M, Pérez-Sánchez I, Hernández Del Rincón JP, Gimeno JR
Clin Genet 2018 Jan;93(1):3-14. Epub 2017 Aug 17 doi: 10.1111/cge.13027. PMID: 28369730
Maron BJ
Am J Cardiol 2009 Oct 15;104(8):1158-9. Epub 2009 Aug 28 doi: 10.1016/j.amjcard.2009.05.064. PMID: 19801041

Clinical prediction guides

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
Wasserstrum Y, Larrañaga-Moreira JM, Martinez-Veira C, Itelman E, Lotan D, Sabbag A, Kuperstein R, Peled Y, Freimark D, Barriales-Villa R, Arad M
ESC Heart Fail 2022 Aug;9(4):2301-2312. Epub 2022 Apr 30 doi: 10.1002/ehf2.13914. PMID: 35488723Free PMC Article
Aziz A, Musiol SK, Moody WE, Pickup L, Cooper R, Lip GYH
Eur J Clin Invest 2021 Aug;51(8):e13593. Epub 2021 May 25 doi: 10.1111/eci.13593. PMID: 33948946
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

Recent systematic reviews

Bayonas-Ruiz A, Muñoz-Franco FM, Sabater-Molina M, Oliva-Sandoval MJ, Gimeno JR, Bonacasa B
ESC Heart Fail 2023 Feb;10(1):8-23. Epub 2022 Oct 1 doi: 10.1002/ehf2.14142. PMID: 36181355Free PMC Article
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
Mascia G, Crotti L, Groppelli A, Canepa M, Merlo AC, Benenati S, Di Donna P, Della Bona R, Soranna D, Zambon A, Porto I, Olivotto I, Parati G, Brignole M, Cecchi F
Int J Cardiol 2022 Jun 15;357:88-94. Epub 2022 Mar 15 doi: 10.1016/j.ijcard.2022.03.028. PMID: 35304190
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

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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