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Hypertrophic cardiomyopathy 21(CMH21)

MedGen UID:
766356
•Concept ID:
C3553442
•
Disease or Syndrome
Synonym: Familial hypertrophic cardiomyopathy 21
 
Monarch Initiative: MONDO:0013852
OMIM®: 614676

Definition

Hypertrophic cardiomyopathy (CMH) is characterized by unexplained cardiac hypertrophy: thickening of the myocardial wall in the absence of any other identifiable cause for left ventricular hypertrophy such as systemic hypertension or valvular heart disease. Myocyte hypertrophy, disarray, and fibrosis are the histopathologic hallmarks of this disorder. Clinical features are diverse and include arrhythmias, sudden cardiac death, and heart failure. With an estimated prevalence of 1 in 500, CMH is the most common cardiovascular genetic disease and the most common cause of sudden death in competitive athletes in the United States (summary by Song et al., 2006). For a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600). [from OMIM]

Clinical features

From HPO
Sudden death
MedGen UID:
8257
•Concept ID:
C0011071
•
Pathologic Function
Rapid and unexpected death.
See: Feature record | Search on this feature
Atrial fibrillation
MedGen UID:
445
•Concept ID:
C0004238
•
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
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
Mitral valve prolapse
MedGen UID:
7671
•Concept ID:
C0026267
•
Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
See: Feature record | Search on this feature
Left ventricular hypertrophy
MedGen UID:
57442
•Concept ID:
C0149721
•
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
See: Feature record | Search on this feature
Myofiber disarray
MedGen UID:
1615672
•Concept ID:
C3671015
•
Finding
A nonparallel arrangement of cardiac myocytes.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Peguero-Lo Presti criteria for diagnosis of left ventricular hypertrophy: a cardiac magnetic resonance validation study.
Guerreiro C, Azevedo P, Ladeiras-Lopes R, Ferreira N, Barbosa AR, Faria R, Almeida J, Primo J, Melica B, Braga P
J Cardiovasc Med (Hagerstown) 2020 Jun;21(6):437-443. doi: 10.2459/JCM.0000000000000964. PMID: 32251077

Recent clinical studies

Etiology

Hypertrophic Cardiomyopathy.
Dungu JN, Hardy-Wallace A, Dimarco AD, Savage HO
Curr Heart Fail Rep 2024 Aug;21(4):428-438. Epub 2024 Mar 15 doi: 10.1007/s11897-024-00654-0. PMID: 38488965
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
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
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
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
Evaluation of Mavacamten in Symptomatic Patients With Nonobstructive Hypertrophic Cardiomyopathy.
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

Diagnosis

Hypertrophic Cardiomyopathy.
Dungu JN, Hardy-Wallace A, Dimarco AD, Savage HO
Curr Heart Fail Rep 2024 Aug;21(4):428-438. Epub 2024 Mar 15 doi: 10.1007/s11897-024-00654-0. PMID: 38488965
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
Altered Cardiac Energetics and Mitochondrial Dysfunction in Hypertrophic Cardiomyopathy.
Ranjbarvaziri S, Kooiker KB, Ellenberger M, Fajardo G, Zhao M, Vander Roest AS, Woldeyes RA, Koyano TT, Fong R, Ma N, Tian L, Traber GM, Chan F, Perrino J, Reddy S, Chiu W, Wu JC, Woo JY, Ruppel KM, Spudich JA, Snyder MP, Contrepois K, Bernstein D
Circulation 2021 Nov 23;144(21):1714-1731. Epub 2021 Oct 21 doi: 10.1161/CIRCULATIONAHA.121.053575. PMID: 34672721Free PMC Article
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
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
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

Therapy

Improved Cardiac Performance and Decreased Arrhythmia in Hypertrophic Cardiomyopathy With Non-β-Blocking R-Enantiomer Carvedilol.
Seo K, Yamamoto Y, Kirillova A, Kawana M, Yadav S, Huang Y, Wang Q, Lane KV, Pruitt BL, Perez MV, Bernstein D, Wu JC, Wheeler MT, Parikh VN, Ashley EA
Circulation 2023 Nov 21;148(21):1691-1704. Epub 2023 Oct 18 doi: 10.1161/CIRCULATIONAHA.123.065017. PMID: 37850394
Percutaneous Intramyocardial Septal Radiofrequency Ablation in Patients With Drug-Refractory Hypertrophic Obstructive Cardiomyopathy.
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
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
Evaluation of Mavacamten in Symptomatic Patients With Nonobstructive Hypertrophic Cardiomyopathy.
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
Single-Cell Reconstruction of Progression Trajectory Reveals Intervention Principles in Pathological Cardiac Hypertrophy.
Ren Z, Yu P, Li D, Li Z, Liao Y, Wang Y, Zhou B, Wang L
Circulation 2020 May 26;141(21):1704-1719. Epub 2020 Feb 26 doi: 10.1161/CIRCULATIONAHA.119.043053. PMID: 32098504

Prognosis

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
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
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
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
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
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
Heart failure in cardiomyopathies: a position paper from the Heart Failure Association of the European Society of Cardiology.
Seferović PM, Polovina M, Bauersachs J, Arad M, Ben Gal T, Lund LH, Felix SB, Arbustini E, Caforio ALP, Farmakis D, Filippatos GS, Gialafos E, Kanjuh V, Krljanac G, Limongelli G, Linhart A, Lyon AR, Maksimović R, Miličić D, Milinković I, Noutsias M, Oto A, Oto Ö, Pavlović SU, Piepoli MF, Ristić AD, Rosano GMC, Seggewiss H, Ašanin M, Seferović JP, Ruschitzka F, Čelutkiene J, Jaarsma T, Mueller C, Moura B, Hill L, Volterrani M, Lopatin Y, Metra M, Backs J, Mullens W, Chioncel O, de Boer RA, Anker S, Rapezzi C, Coats AJS, Tschöpe C
Eur J Heart Fail 2019 May;21(5):553-576. Epub 2019 Apr 16 doi: 10.1002/ejhf.1461. PMID: 30989768

Clinical prediction guides

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA, Zhang X, Theotokis P, Thomson K, Harper A, Buchan RJ, Mazaika E, Ormondroyd E, Wright WT, Macaya D, Pua CJ, Funke B, MacArthur DG, Prasad SK, Cook SA, Allouba M, Aguib Y, Yacoub MH, O'Regan DP, Barton PJR, Watkins H, Bottolo L, Ware JS
Am J Hum Genet 2023 Sep 7;110(9):1482-1495. Epub 2023 Aug 30 doi: 10.1016/j.ajhg.2023.08.003. PMID: 37652022Free PMC Article
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
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
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
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.
Gao J, Collyer J, Wang M, Sun F, Xu F
Int J Mol Sci 2020 Apr 25;21(9) doi: 10.3390/ijms21093040. PMID: 32344918Free PMC Article
Multiparametric Echocardiography Scores for the Diagnosis of Cardiac Amyloidosis.
Boldrini M, Cappelli F, Chacko L, Restrepo-Cordoba MA, Lopez-Sainz A, Giannoni A, Aimo A, Baggiano A, Martinez-Naharro A, Whelan C, Quarta C, Passino C, Castiglione V, Chubuchnyi V, Spini V, Taddei C, Vergaro G, Petrie A, Ruiz-Guerrero L, Moñivas V, Mingo-Santos S, Mirelis JG, Dominguez F, Gonzalez-Lopez E, Perlini S, Pontone G, Gillmore J, Hawkins PN, Garcia-Pavia P, Emdin M, Fontana M
JACC Cardiovasc Imaging 2020 Apr;13(4):909-920. Epub 2019 Dec 18 doi: 10.1016/j.jcmg.2019.10.011. PMID: 31864973

Recent systematic reviews

The Efficacy of Cardiac Myosin Inhibitors Versus Placebo in Patients With Symptomatic Hypertrophic Cardiomyopathy: A Meta-Analysis and Systematic Review.
Yassen M, Changal K, Busken J, Royfman R, Schodowski E, Venkataramany B, Khouri SJ, Moukarbel GV
Am J Cardiol 2024 Jan 1;210:219-224. Epub 2023 Oct 25 doi: 10.1016/j.amjcard.2023.10.059. PMID: 37884110
Alcohol septal ablation versus surgical septal myectomy of obstructive hypertrophic cardiomyopathy: systematic review and meta-analysis.
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
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
Syncope in hypertrophic cardiomyopathy (part I): An updated systematic review and meta-analysis.
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
A systematic review of microRNAs in patients with hypertrophic cardiomyopathy.
Scolari FL, Faganello LS, Garbin HI, Piva E Mattos B, Biolo A
Int J Cardiol 2021 Mar 15;327:146-154. Epub 2020 Nov 16 doi: 10.1016/j.ijcard.2020.11.004. PMID: 33212095

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