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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

Sherrid MV, Bernard S, Tripathi N, Patel Y, Modi V, Axel L, Talebi S, Ghoshhajra BB, Sanborn DY, Saric M, Adlestein E, Alvarez IC, Xia Y, Swistel DG, Massera D, Fifer MA, Kim B
JACC Cardiovasc Imaging 2023 May;16(5):591-605. Epub 2023 Jan 11 doi: 10.1016/j.jcmg.2022.11.013. PMID: 36681586
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
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
Adamczak DM, Oko-Sarnowska Z
Cardiol Rev 2018 May/Jun;26(3):145-151. doi: 10.1097/CRD.0000000000000184. PMID: 29621050

Diagnosis

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
Sherrid MV, Bernard S, Tripathi N, Patel Y, Modi V, Axel L, Talebi S, Ghoshhajra BB, Sanborn DY, Saric M, Adlestein E, Alvarez IC, Xia Y, Swistel DG, Massera D, Fifer MA, Kim B
JACC Cardiovasc Imaging 2023 May;16(5):591-605. Epub 2023 Jan 11 doi: 10.1016/j.jcmg.2022.11.013. PMID: 36681586
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
Llamas-Esperón GA, Llamas-Delgado G
Arch Cardiol Mex 2022;92(3):377-389. doi: 10.24875/ACM.21000301. PMID: 35772124Free 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

Fang J, Liu Y, Zhu Y, Li R, Wang R, Wang DW, Song Y, Li C, Chen Y, Cheng L, Zheng K, Zhao Y, Li S, Cheng C, Xia L, Chen X, Wan S, Wei X
J Am Coll Cardiol 2023 Aug 15;82(7):575-586. doi: 10.1016/j.jacc.2023.05.052. PMID: 37558369
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
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
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

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
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
Adamczak DM, Oko-Sarnowska Z
Cardiol Rev 2018 May/Jun;26(3):145-151. doi: 10.1097/CRD.0000000000000184. PMID: 29621050
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

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
Sherrid MV, Bernard S, Tripathi N, Patel Y, Modi V, Axel L, Talebi S, Ghoshhajra BB, Sanborn DY, Saric M, Adlestein E, Alvarez IC, Xia Y, Swistel DG, Massera D, Fifer MA, Kim B
JACC Cardiovasc Imaging 2023 May;16(5):591-605. Epub 2023 Jan 11 doi: 10.1016/j.jcmg.2022.11.013. PMID: 36681586
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
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

Bayonas-Ruiz A, Muñoz-Franco FM, Sabater-Molina M, Oliva-Sandoval MJ, Gimeno JR, Bonacasa B
ESC Heart Fail 2023 Feb;10(1):8-23. Epub 2022 Oct 1 doi: 10.1002/ehf2.14142. PMID: 36181355Free PMC Article
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

Supplemental Content

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    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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