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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). [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

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
Mascia G, Crotti L, Groppelli A, Canepa M, Merlo AC, Benenati S, Di Donna P, Della Bona R, Soranna D, Zambon A, Porto I, Olivotto I, Parati G, Brignole M, Cecchi F
Int J Cardiol 2022 Jun 15;357:88-94. Epub 2022 Mar 15 doi: 10.1016/j.ijcard.2022.03.028. PMID: 35304190
Sabater-Molina M, Pérez-Sánchez I, Hernández Del Rincón JP, Gimeno JR
Clin Genet 2018 Jan;93(1):3-14. Epub 2017 Aug 17 doi: 10.1111/cge.13027. PMID: 28369730
Saberi S, Wheeler M, Bragg-Gresham J, Hornsby W, Agarwal PP, Attili A, Concannon M, Dries AM, Shmargad Y, Salisbury H, Kumar S, Herrera JJ, Myers J, Helms AS, Ashley EA, Day SM
JAMA 2017 Apr 4;317(13):1349-1357. doi: 10.1001/jama.2017.2503. PMID: 28306757Free 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

Diagnosis

Yu T, Huang Z, Pu Z
Genes (Basel) 2022 Mar 17;13(3) doi: 10.3390/genes13030530. PMID: 35328083Free PMC Article
Mascia G, Crotti L, Groppelli A, Canepa M, Merlo AC, Benenati S, Di Donna P, Della Bona R, Soranna D, Zambon A, Porto I, Olivotto I, Parati G, Brignole M, Cecchi F
Int J Cardiol 2022 Jun 15;357:88-94. Epub 2022 Mar 15 doi: 10.1016/j.ijcard.2022.03.028. PMID: 35304190
Habib M, Adler A, Fardfini K, Hoss S, Hanneman K, Rowin EJ, Maron MS, Maron BJ, Rakowski H, Chan RH
JACC Cardiovasc Imaging 2021 May;14(5):947-958. Epub 2020 Nov 25 doi: 10.1016/j.jcmg.2020.09.037. PMID: 33248971
Sabater-Molina M, Pérez-Sánchez I, Hernández Del Rincón JP, Gimeno JR
Clin Genet 2018 Jan;93(1):3-14. Epub 2017 Aug 17 doi: 10.1111/cge.13027. PMID: 28369730
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

Hegde SM, Lester SJ, Solomon SD, Michels M, Elliott PM, Nagueh SF, Choudhury L, Zemanek D, Zwas DR, Jacoby D, Wang A, Ho CY, Li W, Sehnert AJ, Olivotto I, Abraham TP
J Am Coll Cardiol 2021 Dec 21;78(25):2518-2532. doi: 10.1016/j.jacc.2021.09.1381. PMID: 34915982
Zampieri M, Argirò A, Marchi A, Berteotti M, Targetti M, Fornaro A, Tomberli A, Stefàno P, Marchionni N, Olivotto I
Curr Cardiol Rep 2021 Jun 3;23(7):79. doi: 10.1007/s11886-021-01508-0. PMID: 34081217
Spertus JA, Fine JT, Elliott P, Ho CY, Olivotto I, Saberi S, Li W, Dolan C, Reaney M, Sehnert AJ, Jacoby D
Lancet 2021 Jun 26;397(10293):2467-2475. Epub 2021 May 15 doi: 10.1016/S0140-6736(21)00763-7. PMID: 34004177
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
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
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
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

Clinical prediction guides

Habib M, Adler A, Fardfini K, Hoss S, Hanneman K, Rowin EJ, Maron MS, Maron BJ, Rakowski H, Chan RH
JACC Cardiovasc Imaging 2021 May;14(5):947-958. Epub 2020 Nov 25 doi: 10.1016/j.jcmg.2020.09.037. PMID: 33248971
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
Sabater-Molina M, Pérez-Sánchez I, Hernández Del Rincón JP, Gimeno JR
Clin Genet 2018 Jan;93(1):3-14. Epub 2017 Aug 17 doi: 10.1111/cge.13027. PMID: 28369730
Weng Z, Yao J, Chan RH, He J, Yang X, Zhou Y, He Y
JACC Cardiovasc Imaging 2016 Dec;9(12):1392-1402. Epub 2016 Jul 20 doi: 10.1016/j.jcmg.2016.02.031. PMID: 27450876
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

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: 35509173
Mascia G, Crotti L, Groppelli A, Canepa M, Merlo AC, Benenati S, Di Donna P, Della Bona R, Soranna D, Zambon A, Porto I, Olivotto I, Parati G, Brignole M, Cecchi F
Int J Cardiol 2022 Jun 15;357:88-94. Epub 2022 Mar 15 doi: 10.1016/j.ijcard.2022.03.028. PMID: 35304190
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.

    Curated

    • EuroGenetest, 2011
      Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

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