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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Left ventricular hypertrophy
MedGen UID:
57442
•Concept ID:
C0149721
•
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Improved Diagnostic Criteria for Apical Hypertrophic Cardiomyopathy.
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
2023 ESC Guidelines for the management of cardiomyopathies.
Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, Kaski JP; ESC Scientific Document Group
Eur Heart J 2023 Oct 1;44(37):3503-3626. doi: 10.1093/eurheartj/ehad194. PMID: 37622657
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.
Stava TT, Leren TP, Bogsrud MP
Eur J Prev Cardiol 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. PMID: 35653365

Recent clinical studies

Etiology

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Thompson AD, Helms AS, Kannan A, Yob J, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Mazzarotto F, Olivotto I, Ho CY, Day SM
Genet Med 2021 Jul;23(7):1281-1287. Epub 2021 Mar 29 doi: 10.1038/s41436-021-01134-9. PMID: 33782553Free PMC Article
Hypertrophic Obstructive Cardiomyopathy.
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
Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals.
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
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
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
New perspectives on the prevalence of hypertrophic cardiomyopathy.
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

Diagnosis

Apical Hypertrophic Cardiomyopathy: The Variant Less Known.
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
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).
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
Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals.
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
New perspectives on the prevalence of hypertrophic cardiomyopathy.
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
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
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

Therapy

Aficamten for Symptomatic Obstructive Hypertrophic Cardiomyopathy.
Maron MS, Masri A, Nassif ME, Barriales-Villa R, Arad M, Cardim N, Choudhury L, Claggett B, Coats CJ, Düngen HD, Garcia-Pavia P, Hagège AA, Januzzi JL, Lee MMY, Lewis GD, Ma CS, Michels M, Olivotto I, Oreziak A, Owens AT, Spertus JA, Solomon SD, Tfelt-Hansen J, van Sinttruije M, Veselka J, Watkins H, Jacoby DL, Heitner SB, Kupfer S, Malik FI, Meng L, Wohltman A, Abraham TP; SEQUOIA-HCM Investigators
N Engl J Med 2024 May 30;390(20):1849-1861. Epub 2024 May 13 doi: 10.1056/NEJMoa2401424. PMID: 38739079
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.
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
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
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
Mavacamten Treatment for Obstructive Hypertrophic Cardiomyopathy: A Clinical Trial.
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
Pediatric Cardiomyopathies.
Lee TM, Hsu DT, Kantor P, Towbin JA, Ware SM, Colan SD, Chung WK, Jefferies JL, Rossano JW, Castleberry CD, Addonizio LJ, Lal AK, Lamour JM, Miller EM, Thrush PT, Czachor JD, Razoky H, Hill A, Lipshultz SE
Circ Res 2017 Sep 15;121(7):855-873. doi: 10.1161/CIRCRESAHA.116.309386. PMID: 28912187Free PMC Article

Prognosis

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Thompson AD, Helms AS, Kannan A, Yob J, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Mazzarotto F, Olivotto I, Ho CY, Day SM
Genet Med 2021 Jul;23(7):1281-1287. Epub 2021 Mar 29 doi: 10.1038/s41436-021-01134-9. PMID: 33782553Free PMC Article
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).
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
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
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
New perspectives on the prevalence of hypertrophic cardiomyopathy.
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
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
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

Improved Diagnostic Criteria for Apical Hypertrophic Cardiomyopathy.
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
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Thompson AD, Helms AS, Kannan A, Yob J, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Mazzarotto F, Olivotto I, Ho CY, Day SM
Genet Med 2021 Jul;23(7):1281-1287. Epub 2021 Mar 29 doi: 10.1038/s41436-021-01134-9. PMID: 33782553Free PMC Article
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy.
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
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).
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
Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals.
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

Evaluation of mavacamten in patients with hypertrophic cardiomyopathy.
Liao HL, Liang Y, Liang B
J Cardiovasc Med (Hagerstown) 2024 Jul 1;25(7):491-498. Epub 2024 May 29 doi: 10.2459/JCM.0000000000001638. PMID: 38814051
The Efficacy of Cardiac Myosin Inhibitors Versus Placebo in Patients With Symptomatic Hypertrophic Cardiomyopathy: A Meta-Analysis and Systematic Review.
Yassen M, Changal K, Busken J, Royfman R, Schodowski E, Venkataramany B, Khouri SJ, Moukarbel GV
Am J Cardiol 2024 Jan 1;210:219-224. Epub 2023 Oct 25 doi: 10.1016/j.amjcard.2023.10.059. PMID: 37884110
Current therapies for hypertrophic cardiomyopathy: a systematic review and meta-analysis of the literature.
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
Prevalence and clinical outcomes of transthyretin amyloidosis: a systematic review and meta-analysis.
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
Redefining the epidemiology of cardiac amyloidosis. A systematic review and meta-analysis of screening studies.
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

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