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Hypertrophic cardiomyopathy 3(CMH3)

MedGen UID:
349382
Concept ID:
C1861863
Disease or Syndrome
Synonyms: Familial hypertrophic cardiomyopathy 3; TPM1-Related Familial Hypertrophic Cardiomyopathy
 
Gene (location): TPM1 (15q22.2)
 
Monarch Initiative: MONDO:0007267
OMIM®: 115196

Definition

Familial hypertrophic cardiomyopathy-3 (CMH3) is an autosomal dominant disorder characterized by increased myocardial mass with myocyte and myofibrillar disarray (Thierfelder et al., 1994). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). [from OMIM]

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).
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Maron BJ, Udelson JE, Bonow RO, Nishimura RA, Ackerman MJ, Estes NA 3rd, Cooper LT Jr, Link MS, Maron MS; American Heart Association Electrocardiography and Arrhythmias Committee of Council on Clinical Cardiology, Council on Cardiovascular Disease in Young, Council on Cardiovascular and Stroke Nursing, Council on Functional Genomics and Translational Biology, and American College of Cardiology
Circulation 2015 Dec 1;132(22):e273-80. Epub 2015 Nov 2 doi: 10.1161/CIR.0000000000000239. PMID: 26621644
Maron BJ, Udelson JE, Bonow RO, Nishimura RA, Ackerman MJ, Estes NAM 3rd, Cooper LT Jr, Link MS, Maron MS
J Am Coll Cardiol 2015 Dec 1;66(21):2362-2371. Epub 2015 Nov 2 doi: 10.1016/j.jacc.2015.09.035. PMID: 26542657

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

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
Nielsen SK, Hansen FG, Rasmussen TB, Fischer T, Lassen JF, Madsen T, Møller DS, Klausen IC, Brodersen JB, Jensen MSK, Mogensen J
J Am Coll Cardiol 2023 Oct 31;82(18):1751-1761. doi: 10.1016/j.jacc.2023.08.041. PMID: 37879779
Sikka P, Suri V, Chopra S, Aggarwal N, Saha SC, Bansal R, Vijayvergiya R, Bahl A
Tex Heart Inst J 2022 Sep 1;49(5) doi: 10.14503/THIJ-20-7427. PMID: 36223225Free PMC Article
Martinez MW
Clin Sports Med 2022 Jul;41(3):473-484. doi: 10.1016/j.csm.2022.02.011. PMID: 35710273
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

Diagnosis

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
Nielsen SK, Hansen FG, Rasmussen TB, Fischer T, Lassen JF, Madsen T, Møller DS, Klausen IC, Brodersen JB, Jensen MSK, Mogensen J
J Am Coll Cardiol 2023 Oct 31;82(18):1751-1761. doi: 10.1016/j.jacc.2023.08.041. PMID: 37879779
Zhou N, Weng H, Zhao W, Tang L, Ge Z, Tian F, Meng F, Pan C, Shu X
Eur Heart J Cardiovasc Imaging 2023 Dec 21;25(1):127-135. doi: 10.1093/ehjci/jead200. PMID: 37561025
Sikka P, Suri V, Chopra S, Aggarwal N, Saha SC, Bansal R, Vijayvergiya R, Bahl A
Tex Heart Inst J 2022 Sep 1;49(5) doi: 10.14503/THIJ-20-7427. PMID: 36223225Free PMC Article
Hensley N, Dietrich J, Nyhan D, Mitter N, Yee MS, Brady M
Anesth Analg 2015 Mar;120(3):554-569. doi: 10.1213/ANE.0000000000000538. PMID: 25695573

Therapy

Coats CJ, Maron MS, Abraham TP, Olivotto I, Lee MMY, Arad M, Cardim N, Ma CS, Choudhury L, Düngen HD, Garcia-Pavia P, Hagège AA, Lewis GD, Michels M, Oreziak A, Owens AT, Tfelt-Hansen J, Veselka J, Watkins HC, Heitner SB, Jacoby DL, Kupfer S, Malik FI, Meng L, Wohltman A, Masri A; SEQUOIA-HCM Investigators
JACC Heart Fail 2024 Jan;12(1):199-215. Epub 2023 Nov 29 doi: 10.1016/j.jchf.2023.10.004. PMID: 38032573
Rowin EJ, Link MS, Maron MS, Maron BJ
Circulation 2023 Nov 28;148(22):1797-1811. Epub 2023 Nov 27 doi: 10.1161/CIRCULATIONAHA.123.065037. PMID: 38011245
Bishev D, Fabara S, Loseke I, Alok A, Al-Ani H, Bazikian Y
Heart Lung Circ 2023 Sep;32(9):1049-1056. Epub 2023 Jul 14 doi: 10.1016/j.hlc.2023.05.019. PMID: 37453852
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
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

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
Norrish G, Ding T, Field E, Ziólkowska L, Olivotto I, Limongelli G, Anastasakis A, Weintraub R, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernández A, Bökenkamp R, Baban A, Kubuš P, Daubeney PEF, Sarquella-Brugada G, Cesar S, Marrone C, Bhole V, Medrano C, Uzun O, Brown E, Gran F, Castro FJ, Stuart G, Vignati G, Barriales-Villa R, Guereta LG, Adwani S, Linter K, Bharucha T, Garcia-Pavia P, Rasmussen TB, Calcagnino MM, Jones CB, De Wilde H, Toru-Kubo J, Felice T, Mogensen J, Mathur S, Reinhardt Z, O'Mahony C, Elliott PM, Omar RZ, Kaski JP
JAMA Cardiol 2019 Sep 1;4(9):918-927. doi: 10.1001/jamacardio.2019.2861. PMID: 31411652Free 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
Hensley N, Dietrich J, Nyhan D, Mitter N, Yee MS, Brady M
Anesth Analg 2015 Mar;120(3):554-569. doi: 10.1213/ANE.0000000000000538. PMID: 25695573
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

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
Rowin EJ, Link MS, Maron MS, Maron BJ
Circulation 2023 Nov 28;148(22):1797-1811. Epub 2023 Nov 27 doi: 10.1161/CIRCULATIONAHA.123.065037. PMID: 38011245
Oberoi M, Foley TA, Schaff HV
J Thorac Cardiovasc Surg 2022 Mar;163(3):e243-e245. Epub 2021 Jan 12 doi: 10.1016/j.jtcvs.2020.12.118. PMID: 33581900
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
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

Recent systematic reviews

Yacoub MS, El-Nakhal T, Hasabo EA, Shehata N, Wilson K, Ismail KH, Bakr MS, Mohsen M, Mohamed A, Abdelazim E, Ali HT, Soliman Z, Sayed A, Abdelsayed K, Caliskan K, Soliman O
Heart Fail Rev 2024 Mar;29(2):479-496. Epub 2023 Dec 19 doi: 10.1007/s10741-023-10375-6. PMID: 38112937
Bishev D, Fabara S, Loseke I, Alok A, Al-Ani H, Bazikian Y
Heart Lung Circ 2023 Sep;32(9):1049-1056. Epub 2023 Jul 14 doi: 10.1016/j.hlc.2023.05.019. PMID: 37453852
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

Supplemental Content

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    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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