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Hypertrophic cardiomyopathy 14(CMH14)

MedGen UID:
442484
Concept ID:
C2750467
Disease or Syndrome
Synonym: Familial hypertrophic cardiomyopathy 14
 
Gene (location): MYH6 (14q11.2)
 
Monarch Initiative: MONDO:0013197
OMIM®: 613251

Definition

An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the MYH6 gene, encoding myosin-6. [from NCI]

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.
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.
Left ventricular outflow tract obstruction
MedGen UID:
6031
Concept ID:
C0023213
Disease or Syndrome
Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.
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).
Right bundle branch block
MedGen UID:
88445
Concept ID:
C0085615
Disease or Syndrome
A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Severely reduced left ventricular ejection fraction
MedGen UID:
868396
Concept ID:
C4022790
Finding
A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Jayaraman R, Reinier K, Nair S, Aro AL, Uy-Evanado A, Rusinaru C, Stecker EC, Gunson K, Jui J, Chugh SS
Circulation 2018 Apr 10;137(15):1561-1570. Epub 2017 Dec 21 doi: 10.1161/CIRCULATIONAHA.117.031262. PMID: 29269388Free 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

Ommen SR, Ho CY, Asif IM, Balaji S, Burke MA, Day SM, Dearani JA, Epps KC, Evanovich L, Ferrari VA, Joglar JA, Khan SS, Kim JJ, Kittleson MM, Krittanawong C, Martinez MW, Mital S, Naidu SS, Saberi S, Semsarian C, Times S, Waldman CB
Circulation 2024 Jun 4;149(23):e1239-e1311. Epub 2024 May 8 doi: 10.1161/CIR.0000000000001250. PMID: 38718139
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
Dong T, Gilliland Y, Kramer CM, Theodore A, Desai M
Prog Cardiovasc Dis 2023 Sep-Oct;80:14-24. Epub 2023 Aug 14 doi: 10.1016/j.pcad.2023.08.004. PMID: 37586654
Podlesnikar T, Cardim N, Ajmone Marsan N, D'Andrea A, Cameli M, Popescu BA, Schulz-Menger J, Stankovic I, Toplisek J, Maurer G, Haugaa KH, Dweck MR
Eur Heart J Cardiovasc Imaging 2022 Apr 18;23(5):590-597. doi: 10.1093/ehjci/jeab270. PMID: 34957501
Sedaghat-Hamedani F, Kayvanpour E, Tugrul OF, Lai A, Amr A, Haas J, Proctor T, Ehlermann P, Jensen K, Katus HA, Meder B
Clin Res Cardiol 2018 Jan;107(1):30-41. Epub 2017 Aug 24 doi: 10.1007/s00392-017-1155-5. PMID: 28840316

Diagnosis

Ommen SR, Ho CY, Asif IM, Balaji S, Burke MA, Day SM, Dearani JA, Epps KC, Evanovich L, Ferrari VA, Joglar JA, Khan SS, Kim JJ, Kittleson MM, Krittanawong C, Martinez MW, Mital S, Naidu SS, Saberi S, Semsarian C, Times S, Waldman CB
Circulation 2024 Jun 4;149(23):e1239-e1311. Epub 2024 May 8 doi: 10.1161/CIR.0000000000001250. PMID: 38718139
Dong T, Gilliland Y, Kramer CM, Theodore A, Desai M
Prog Cardiovasc Dis 2023 Sep-Oct;80:14-24. Epub 2023 Aug 14 doi: 10.1016/j.pcad.2023.08.004. PMID: 37586654
Podlesnikar T, Cardim N, Ajmone Marsan N, D'Andrea A, Cameli M, Popescu BA, Schulz-Menger J, Stankovic I, Toplisek J, Maurer G, Haugaa KH, Dweck MR
Eur Heart J Cardiovasc Imaging 2022 Apr 18;23(5):590-597. doi: 10.1093/ehjci/jeab270. PMID: 34957501
Sedaghat-Hamedani F, Kayvanpour E, Tugrul OF, Lai A, Amr A, Haas J, Proctor T, Ehlermann P, Jensen K, Katus HA, Meder B
Clin Res Cardiol 2018 Jan;107(1):30-41. Epub 2017 Aug 24 doi: 10.1007/s00392-017-1155-5. PMID: 28840316
Weissler-Snir A, Crean A, Rakowski H
Expert Rev Cardiovasc Ther 2016;14(1):51-74. Epub 2015 Nov 14 doi: 10.1586/14779072.2016.1113130. PMID: 26567960

Therapy

Fang J, Liu Y, Zhu Y, Li R, Wang R, Wang DW, Song Y, Li C, Chen Y, Cheng L, Zheng K, Zhao Y, Li S, Cheng C, Xia L, Chen X, Wan S, Wei X
J Am Coll Cardiol 2023 Aug 15;82(7):575-586. doi: 10.1016/j.jacc.2023.05.052. PMID: 37558369
Zhou M, Ta S, Hahn RT, Hsi DH, Leon MB, Hu R, Zhang J, Zuo L, Li J, Wang J, Wang B, Zhu X, Liu J, Han Y, Li X, Xu B, Zhang L, Hou L, Han C, Liu J, Liu L
JAMA Cardiol 2022 May 1;7(5):529-538. doi: 10.1001/jamacardio.2022.0259. PMID: 35353129Free PMC Article
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

Prognosis

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
Dong T, Gilliland Y, Kramer CM, Theodore A, Desai M
Prog Cardiovasc Dis 2023 Sep-Oct;80:14-24. Epub 2023 Aug 14 doi: 10.1016/j.pcad.2023.08.004. PMID: 37586654
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
Norrish G, Jager J, Field E, Quinn E, Fell H, Lord E, Cicerchia MN, Ochoa JP, Cervi E, Elliott PM, Kaski JP
Circulation 2019 Jul 16;140(3):184-192. Epub 2019 Apr 22 doi: 10.1161/CIRCULATIONAHA.118.038846. PMID: 31006259Free 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

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
Podlesnikar T, Cardim N, Ajmone Marsan N, D'Andrea A, Cameli M, Popescu BA, Schulz-Menger J, Stankovic I, Toplisek J, Maurer G, Haugaa KH, Dweck MR
Eur Heart J Cardiovasc Imaging 2022 Apr 18;23(5):590-597. doi: 10.1093/ehjci/jeab270. PMID: 34957501
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
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
Sedaghat-Hamedani F, Kayvanpour E, Tugrul OF, Lai A, Amr A, Haas J, Proctor T, Ehlermann P, Jensen K, Katus HA, Meder B
Clin Res Cardiol 2018 Jan;107(1):30-41. Epub 2017 Aug 24 doi: 10.1007/s00392-017-1155-5. PMID: 28840316

Recent systematic reviews

Hussain K, Nso N, Tsourdinis G, Haider S, Mian R, Sanagala T, Erwin JP 3rd, Pursnani A
Curr Probl Cardiol 2024 Jan;49(1 Pt C):102146. Epub 2023 Oct 18 doi: 10.1016/j.cpcardiol.2023.102146. PMID: 37863460
Yokoyama Y, Shimoda T, Shimada YJ, Shimamura J, Akita K, Yasuda R, Takayama H, Kuno T
Eur J Cardiothorac Surg 2023 Mar 1;63(3) doi: 10.1093/ejcts/ezad043. PMID: 36782361
Yang Y, Wu D, Wang H, Wang Y
Clin Cardiol 2022 Dec;45(12):1184-1191. Epub 2022 Sep 30 doi: 10.1002/clc.23928. PMID: 36177652Free 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
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

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    Curated

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

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