U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypertrophic cardiomyopathy 16(CMH16)

MedGen UID:
462554
Concept ID:
C3151204
Disease or Syndrome
Synonym: Familial hypertrophic cardiomyopathy 16
 
Gene (location): MYOZ2 (4q26)
 
Monarch Initiative: MONDO:0013455
OMIM®: 613838

Definition

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 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).
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.
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.
Left bundle branch block
MedGen UID:
7286
Concept ID:
C0023211
Disease or Syndrome
A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.
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.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
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).
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Asymmetric septal hypertrophy
MedGen UID:
104705
Concept ID:
C0205700
Disease or Syndrome
Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.
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.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Orthopnea
MedGen UID:
508348
Concept ID:
C0085619
Finding
A sensation of breathlessness in the recumbent position, relieved by sitting or standing.

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
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
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

Recent clinical studies

Etiology

Farrant J, Dodd S, Vaughan C, Reid A, Schmitt M, Garratt C, Akhtar M, Mahmod M, Neubauer S, Cooper RM, Prasad SK, Singh A, Valkovič L, Raman B, Ashkir Z, Clayton D, Baroja O, Duran B, Spowart C, Bedson E, Naish JH, Harrington C, Miller CA; TEMPEST investigators
Heart 2023 Jul 12;109(15):1175-1182. doi: 10.1136/heartjnl-2022-322271. PMID: 37137675Free PMC Article
Desai MY, Owens A, Geske JB, Wolski K, Saberi S, Wang A, Sherrid M, Cremer PC, Naidu SS, Smedira NG, Schaff H, McErlean E, Sewell C, Balasubramanyam A, Lampl K, Sehnert AJ, Nissen SE
Circulation 2023 Mar 14;147(11):850-863. Epub 2022 Nov 6 doi: 10.1161/CIRCULATIONAHA.122.062534. PMID: 36335531
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
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
O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators
Eur Heart J 2014 Aug 7;35(30):2010-20. Epub 2013 Oct 14 doi: 10.1093/eurheartj/eht439. PMID: 24126876

Diagnosis

Farrant J, Dodd S, Vaughan C, Reid A, Schmitt M, Garratt C, Akhtar M, Mahmod M, Neubauer S, Cooper RM, Prasad SK, Singh A, Valkovič L, Raman B, Ashkir Z, Clayton D, Baroja O, Duran B, Spowart C, Bedson E, Naish JH, Harrington C, Miller CA; TEMPEST investigators
Heart 2023 Jul 12;109(15):1175-1182. doi: 10.1136/heartjnl-2022-322271. PMID: 37137675Free PMC Article
Yu M, Harper AR, Aguirre M, Pittman M, Tcheandjieu C, Amgalan D, Grace C, Goel A, Farrall M, Xiao K, Engreitz J, Pollard KS, Watkins H, Priest JR
Circ Genom Precis Med 2023 Jun;16(3):207-215. Epub 2023 Apr 5 doi: 10.1161/CIRCGEN.122.003708. PMID: 37017090Free 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
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
O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators
Eur Heart J 2014 Aug 7;35(30):2010-20. Epub 2013 Oct 14 doi: 10.1093/eurheartj/eht439. PMID: 24126876

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
Lo ST, Walker AL, Georges CJ, Li RH, Stern JA
J Feline Med Surg 2022 Apr;24(4):277-283. Epub 2021 May 10 doi: 10.1177/1098612X211013736. PMID: 33966532Free PMC Article
Harper AR, Goel A, Grace C, Thomson KL, Petersen SE, Xu X, Waring A, Ormondroyd E, Kramer CM, Ho CY, Neubauer S; HCMR Investigators, Tadros R, Ware JS, Bezzina CR, Farrall M, Watkins H
Nat Genet 2021 Feb;53(2):135-142. Epub 2021 Jan 25 doi: 10.1038/s41588-020-00764-0. PMID: 33495597Free PMC Article
Tadros R, Francis C, Xu X, Vermeer AMC, Harper AR, Huurman R, Kelu Bisabu K, Walsh R, Hoorntje ET, Te Rijdt WP, Buchan RJ, van Velzen HG, van Slegtenhorst MA, Vermeulen JM, Offerhaus JA, Bai W, de Marvao A, Lahrouchi N, Beekman L, Karper JC, Veldink JH, Kayvanpour E, Pantazis A, Baksi AJ, Whiffin N, Mazzarotto F, Sloane G, Suzuki H, Schneider-Luftman D, Elliott P, Richard P, Ader F, Villard E, Lichtner P, Meitinger T, Tanck MWT, van Tintelen JP, Thain A, McCarty D, Hegele RA, Roberts JD, Amyot J, Dubé MP, Cadrin-Tourigny J, Giraldeau G, L'Allier PL, Garceau P, Tardif JC, Boekholdt SM, Lumbers RT, Asselbergs FW, Barton PJR, Cook SA, Prasad SK, O'Regan DP, van der Velden J, Verweij KJH, Talajic M, Lettre G, Pinto YM, Meder B, Charron P, de Boer RA, Christiaans I, Michels M, Wilde AAM, Watkins H, Matthews PM, Ware JS, Bezzina CR
Nat Genet 2021 Feb;53(2):128-134. Epub 2021 Jan 25 doi: 10.1038/s41588-020-00762-2. PMID: 33495596Free PMC Article
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

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
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
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
O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators
Eur Heart J 2014 Aug 7;35(30):2010-20. Epub 2013 Oct 14 doi: 10.1093/eurheartj/eht439. PMID: 24126876

Clinical prediction guides

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
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
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
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
O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators
Eur Heart J 2014 Aug 7;35(30):2010-20. Epub 2013 Oct 14 doi: 10.1093/eurheartj/eht439. PMID: 24126876

Recent systematic reviews

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
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
Ye TTS, Siah QZ, Tan BYQ, Ho JSY, Syn NLX, Teo YH, Teo YN, Yip JW, Yeo TC, Lin W, Wong RCC, Chai P, Chan B, Sharma VK, Yeo LLL, Sia CH
J Thromb Thrombolysis 2023 Jan;55(1):83-91. Epub 2022 Oct 3 doi: 10.1007/s11239-022-02713-6. PMID: 36192663
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
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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...