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Hypertrophic cardiomyopathy 20(CMH20)

MedGen UID:
462617
Concept ID:
C3151267
Disease or Syndrome
Synonym: Familial hypertrophic cardiomyopathy 20
 
Gene (location): NEXN (1p31.1)
 
Monarch Initiative: MONDO:0013477
OMIM®: 613876

Definition

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

Clinical features

From HPO
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.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Stava TT, Leren TP, Bogsrud MP
Eur J Prev Cardiol 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. PMID: 35653365
Robyns T, Breckpot J, Nuyens D, Vandenberk B, Corveleyn A, Kuiperi C, Van Aelst L, Van Cleemput J, Willems R
Eur J Med Genet 2020 Mar;63(3):103754. Epub 2019 Sep 9 doi: 10.1016/j.ejmg.2019.103754. PMID: 31513939
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

Recent clinical studies

Etiology

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
Sedaghat-Hamedani F, Kayvanpour E, Tugrul OF, Lai A, Amr A, Haas J, Proctor T, Ehlermann P, Jensen K, Katus HA, Meder B
Clin Res Cardiol 2018 Jan;107(1):30-41. Epub 2017 Aug 24 doi: 10.1007/s00392-017-1155-5. PMID: 28840316
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
Semsarian C, Ingles J, Maron MS, Maron BJ
J Am Coll Cardiol 2015 Mar 31;65(12):1249-1254. doi: 10.1016/j.jacc.2015.01.019. PMID: 25814232
Coppini R, Ho CY, Ashley E, Day S, Ferrantini C, Girolami F, Tomberli B, Bardi S, Torricelli F, Cecchi F, Mugelli A, Poggesi C, Tardiff J, Olivotto I
J Am Coll Cardiol 2014 Dec 23;64(24):2589-2600. doi: 10.1016/j.jacc.2014.09.059. PMID: 25524337Free PMC Article

Diagnosis

Helms AS, Thompson AD, Glazier AA, Hafeez N, Kabani S, Rodriguez J, Yob JM, Woolcock H, Mazzarotto F, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Olivotto I, Ho CY, Day SM
Circ Genom Precis Med 2020 Oct;13(5):396-405. Epub 2020 Aug 25 doi: 10.1161/CIRCGEN.120.002929. PMID: 32841044Free PMC Article
Hughes RK, Knott KD, Malcolmson J, Augusto JB, Mohiddin SA, Kellman P, Moon JC, Captur G
J Am Heart Assoc 2020 Mar 3;9(5):e015294. Epub 2020 Feb 28 doi: 10.1161/JAHA.119.015294. PMID: 32106746Free 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
Sedaghat-Hamedani F, Kayvanpour E, Tugrul OF, Lai A, Amr A, Haas J, Proctor T, Ehlermann P, Jensen K, Katus HA, Meder B
Clin Res Cardiol 2018 Jan;107(1):30-41. Epub 2017 Aug 24 doi: 10.1007/s00392-017-1155-5. PMID: 28840316
Semsarian C, Ingles J, Maron MS, Maron BJ
J Am Coll Cardiol 2015 Mar 31;65(12):1249-1254. doi: 10.1016/j.jacc.2015.01.019. PMID: 25814232

Therapy

Desai MY, Wolski K, Owens A, Naidu SS, Geske JB, Smedira NG, Schaff H, Lampl K, McErlean E, Sewell C, Zhang D, Edelberg JM, Sehnert AJ, Nissen SE
Am Heart J 2021 Sep;239:80-89. Epub 2021 May 24 doi: 10.1016/j.ahj.2021.05.007. PMID: 34038706
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
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
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

Prognosis

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
Murphy SL, Anderson JH, Kapplinger JD, Kruisselbrink TM, Gersh BJ, Ommen SR, Ackerman MJ, Bos JM
J Cardiovasc Transl Res 2016 Apr;9(2):153-61. Epub 2016 Feb 25 doi: 10.1007/s12265-016-9681-5. PMID: 26914223Free PMC Article
Semsarian C, Ingles J, Maron MS, Maron BJ
J Am Coll Cardiol 2015 Mar 31;65(12):1249-1254. doi: 10.1016/j.jacc.2015.01.019. PMID: 25814232
Coppini R, Ho CY, Ashley E, Day S, Ferrantini C, Girolami F, Tomberli B, Bardi S, Torricelli F, Cecchi F, Mugelli A, Poggesi C, Tardiff J, Olivotto I
J Am Coll Cardiol 2014 Dec 23;64(24):2589-2600. doi: 10.1016/j.jacc.2014.09.059. PMID: 25524337Free PMC Article

Clinical prediction guides

Desai MY, Wolski K, Owens A, Naidu SS, Geske JB, Smedira NG, Schaff H, Lampl K, McErlean E, Sewell C, Zhang D, Edelberg JM, Sehnert AJ, Nissen SE
Am Heart J 2021 Sep;239:80-89. Epub 2021 May 24 doi: 10.1016/j.ahj.2021.05.007. PMID: 34038706
Helms AS, Thompson AD, Glazier AA, Hafeez N, Kabani S, Rodriguez J, Yob JM, Woolcock H, Mazzarotto F, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Olivotto I, Ho CY, Day SM
Circ Genom Precis Med 2020 Oct;13(5):396-405. Epub 2020 Aug 25 doi: 10.1161/CIRCGEN.120.002929. PMID: 32841044Free PMC Article
Robyns T, Breckpot J, Nuyens D, Vandenberk B, Corveleyn A, Kuiperi C, Van Aelst L, Van Cleemput J, Willems R
Eur J Med Genet 2020 Mar;63(3):103754. Epub 2019 Sep 9 doi: 10.1016/j.ejmg.2019.103754. PMID: 31513939
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
Sedaghat-Hamedani F, Kayvanpour E, Tugrul OF, Lai A, Amr A, Haas J, Proctor T, Ehlermann P, Jensen K, Katus HA, Meder B
Clin Res Cardiol 2018 Jan;107(1):30-41. Epub 2017 Aug 24 doi: 10.1007/s00392-017-1155-5. PMID: 28840316

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
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
Pelliccia F, Pasceri V, Limongelli G, Autore C, Basso C, Corrado D, Imazio M, Rapezzi C, Sinagra G, Mercuro G; Working Group on Cardiomyopathies and Pericardial Diseases of the Italian Society of Cardiology
Int J Cardiol 2017 Sep 15;243:379-384. doi: 10.1016/j.ijcard.2017.06.071. PMID: 28747036
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

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