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Hypertrophic cardiomyopathy 13(CMH13)

MedGen UID:
442487
Concept ID:
C2750472
Disease or Syndrome
Synonyms: Familial hypertrophic cardiomyopathy 13; TNNC1-Related Familial Hypertrophic Cardiomyopathy
 
Gene (location): TNNC1 (3p21.1)
 
Monarch Initiative: MONDO:0013195
OMIM®: 613243

Definition

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 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.
Angina pectoris
MedGen UID:
1929
Concept ID:
C0002962
Sign or Symptom
Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
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.
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 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.
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.
Concentric hypertrophic cardiomyopathy
MedGen UID:
68651
Concept ID:
C0238044
Finding
Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.
Left anterior fascicular block
MedGen UID:
75547
Concept ID:
C0264912
Disease or Syndrome
Conduction block in the anterior division of the left bundle branch of the bundle of His.
Biventricular hypertrophy
MedGen UID:
807328
Concept ID:
C0281788
Disease or Syndrome
Thickening of the heart walls in both ventricles.
ST segment depression
MedGen UID:
141712
Concept ID:
C0520887
Finding
An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.
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.
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
Stava TT, Leren TP, Bogsrud MP
Eur J Prev Cardiol 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. PMID: 35653365
Rowin EJ, Maron BJ, Haas TS, Garberich RF, Wang W, Link MS, Maron MS
J Am Coll Cardiol 2017 Feb 21;69(7):761-773. doi: 10.1016/j.jacc.2016.11.063. PMID: 28209216

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

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
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
Cramer GE, Gommans DHF, Dieker HJ, Michels M, Verheugt F, de Boer MJ, Bakker J, Fouraux MA, Timmermans J, Kofflard M, Brouwer M
Heart 2020 Aug;106(15):1169-1175. Epub 2020 Jan 30 doi: 10.1136/heartjnl-2019-315818. PMID: 32001622Free PMC Article
Rowin EJ, Maron BJ, Haas TS, Garberich RF, Wang W, Link MS, Maron MS
J Am Coll Cardiol 2017 Feb 21;69(7):761-773. doi: 10.1016/j.jacc.2016.11.063. PMID: 28209216
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

Diagnosis

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
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
Wheeler MT, Jacoby D, Elliott PM, Saberi S, Hegde SM, Lakdawala NK, Myers J, Sehnert AJ, Edelberg JM, Li W, Olivotto I
Eur J Heart Fail 2023 Feb;25(2):260-270. Epub 2023 Feb 1 doi: 10.1002/ejhf.2737. PMID: 36404399
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
Sequeira V, Bertero E, Maack C
FEBS Lett 2019 Jul;593(13):1616-1626. Epub 2019 Jul 4 doi: 10.1002/1873-3468.13496. PMID: 31209876

Therapy

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
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
Heitner SB, Jacoby D, Lester SJ, Owens A, Wang A, Zhang D, Lambing J, Lee J, Semigran M, Sehnert AJ
Ann Intern Med 2019 Jun 4;170(11):741-748. Epub 2019 Apr 30 doi: 10.7326/M18-3016. PMID: 31035291

Prognosis

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
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
Rowin EJ, Maron BJ, Haas TS, Garberich RF, Wang W, Link MS, Maron MS
J Am Coll Cardiol 2017 Feb 21;69(7):761-773. doi: 10.1016/j.jacc.2016.11.063. PMID: 28209216
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

Clinical prediction guides

Hughes RK, Shiwani H, Rosmini S, Augusto JB, Burke L, Jiang Y, Pierce I, Joy G, Castelletti S, Orini M, Kellman P, Xue H, Lopes LR, Mohiddin S, Treibel T, Manisty C, Captur G, Davies R, Moon JC
JACC Cardiovasc Imaging 2024 May;17(5):501-512. Epub 2023 Oct 11 doi: 10.1016/j.jcmg.2023.07.012. PMID: 37831014
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
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
Wheeler MT, Jacoby D, Elliott PM, Saberi S, Hegde SM, Lakdawala NK, Myers J, Sehnert AJ, Edelberg JM, Li W, Olivotto I
Eur J Heart Fail 2023 Feb;25(2):260-270. Epub 2023 Feb 1 doi: 10.1002/ejhf.2737. PMID: 36404399
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

Recent systematic reviews

Ezzeddine FM, Agboola KM, Hassett LC, Killu AM, Del-Carpio Munoz F, DeSimone CV, Kowlgi GN, Deshmukh AJ, Siontis KC
Europace 2023 Aug 2;25(9) doi: 10.1093/europace/euad256. PMID: 37595138Free PMC Article
Serraino GF, Jiritano F, Costa D, Ielapi N, Napolitano D, Mastroroberto P, Bracale UM, Andreucci M, Serra R
Biomolecules 2023 Apr 11;13(4) doi: 10.3390/biom13040665. PMID: 37189412Free PMC Article
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
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
Guttmann OP, Rahman MS, O'Mahony C, Anastasakis A, Elliott PM
Heart 2014 Mar;100(6):465-72. Epub 2013 Sep 7 doi: 10.1136/heartjnl-2013-304276. PMID: 24014282

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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