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Hypertrophic cardiomyopathy 10(CMH10)

MedGen UID:
331754
Concept ID:
C1834460
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2; Familial hypertrophic cardiomyopathy 10; MYL2-Related Familial Hypertrophic Cardiomyopathy
 
Gene (location): MYL2 (12q24.11)
 
Monarch Initiative: MONDO:0012112
OMIM®: 608758

Definition

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene. [from MONDO]

Clinical features

From HPO
Chest pain
MedGen UID:
2992
Concept ID:
C0008031
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
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.
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.
Supraventricular tachycardia
MedGen UID:
52635
Concept ID:
C0039240
Disease or Syndrome
Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.
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.
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.
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.
T-wave inversion
MedGen UID:
105467
Concept ID:
C0520888
Finding
An inversion of the T-wave (which is normally positive).
Systolic anterior motion of the mitral valve
MedGen UID:
1664719
Concept ID:
C4049276
Finding
Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Towe EC, Bos JM, Ommen SR, Gersh BJ, Ackerman MJ
Congenit Heart Dis 2015 May-Jun;10(3):E139-45. Epub 2014 Dec 14 doi: 10.1111/chd.12242. PMID: 25495007

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

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
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
Batzner A, Schäfers HJ, Borisov KV, Seggewiß H
Dtsch Arztebl Int 2019 Jan 25;116(4):47-53. doi: 10.3238/arztebl.2019.0047. PMID: 30855006Free PMC Article
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
Maron BJ
JAMA 2002 Mar 13;287(10):1308-20. doi: 10.1001/jama.287.10.1308. PMID: 11886323

Diagnosis

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
Gartzonikas IK, Naka KK, Anastasakis A
Hellenic J Cardiol 2023 Mar-Apr;70:65-74. Epub 2022 Nov 17 doi: 10.1016/j.hjc.2022.11.002. PMID: 36403865
Rakowski H, Hoss S, Williams LK
Cardiol Clin 2019 Feb;37(1):11-26. doi: 10.1016/j.ccl.2018.09.001. PMID: 30447711
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
Maron BJ
JAMA 2002 Mar 13;287(10):1308-20. doi: 10.1001/jama.287.10.1308. PMID: 11886323

Therapy

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
Ismayl M, Abbasi MA, Marar R, Geske JB, Gersh BJ, Anavekar NS
Curr Probl Cardiol 2023 Jan;48(1):101429. Epub 2022 Sep 24 doi: 10.1016/j.cpcardiol.2022.101429. PMID: 36167226
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
Ho CY, Day SM, Axelsson A, Russell MW, Zahka K, Lever HM, Pereira AC, Colan SD, Margossian R, Murphy AM, Canter C, Bach RG, Wheeler MT, Rossano JW, Owens AT, Bundgaard H, Benson L, Mestroni L, Taylor MRG, Patel AR, Wilmot I, Thrush P, Vargas JD, Soslow JH, Becker JR, Seidman CE, Lakdawala NK, Cirino AL; VANISH Investigators, Burns KM, McMurray JJV, MacRae CA, Solomon SD, Orav EJ, Braunwald E
Nat Med 2021 Oct;27(10):1818-1824. Epub 2021 Sep 23 doi: 10.1038/s41591-021-01505-4. PMID: 34556856Free 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

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
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
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
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
Maron BJ
JAMA 2002 Mar 13;287(10):1308-20. doi: 10.1001/jama.287.10.1308. PMID: 11886323

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
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
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
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
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

Ismayl M, Abbasi MA, Marar R, Geske JB, Gersh BJ, Anavekar NS
Curr Probl Cardiol 2023 Jan;48(1):101429. Epub 2022 Sep 24 doi: 10.1016/j.cpcardiol.2022.101429. PMID: 36167226
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
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
Maron BJ
JAMA 2002 Mar 13;287(10):1308-20. doi: 10.1001/jama.287.10.1308. PMID: 11886323

Supplemental Content

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    • 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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