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Familial hypertrophic cardiomyopathy 20(CMH20)

MedGen UID:
462617
Concept ID:
C3151267
Disease or Syndrome
Synonyms: CMH20; Hypertrophic cardiomyopathy 20
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
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
A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or overgrowth of the myocardium of the left ventricle, due to chronic pressure overload.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Velicki L, Jakovljevic DG, Preveden A, Golubovic M, Bjelobrk M, Ilic A, Stojsic S, Barlocco F, Tafelmeier M, Okwose N, Tesic M, Brennan P, Popovic D, Ristic A, MacGowan GA, Filipovic N, Maier LS, Olivotto I
BMC Cardiovasc Disord 2020 Dec 9;20(1):516. doi: 10.1186/s12872-020-01807-4. PMID: 33297970Free PMC Article
Canepa M, Fumagalli C, Tini G, Vincent-Tompkins J, Day SM, Ashley EA, Mazzarotto F, Ware JS, Michels M, Jacoby D, Ho CY, Olivotto I; SHaRe Investigators.
Circ Heart Fail 2020 Sep;13(9):e007230. Epub 2020 Sep 8 doi: 10.1161/CIRCHEARTFAILURE.120.007230. PMID: 32894986Free PMC Article
Salazar-Mendiguchía J, Ochoa JP, Palomino-Doza J, Domínguez F, Díez-López C, Akhtar M, Ramiro-León S, Clemente MM, Pérez-Cejas A, Robledo M, Gómez-Díaz I, Peña-Peña ML, Climent V, Salmerón-Martínez F, Hernández C, García-Granja PE, Mogollón MV, Cárdenas-Reyes I, Cicerchia M, García-Giustiniani D, Lamounier A Jr, Gil-Fournier B, Díaz-Flores F, Salguero R, Santomé L, Syrris P, Olivé M, García-Pavía P, Ortiz-Genga M, Elliott PM, Monserrat L; GENESCOPIC Research Group.
Heart 2020 Sep;106(17):1342-1348. Epub 2020 May 25 doi: 10.1136/heartjnl-2020-316913. PMID: 32451364Free PMC Article
Ko C, Arscott P, Concannon M, Saberi S, Day SM, Yashar BM, Helms AS
Genet Med 2018 Jan;20(1):69-75. Epub 2017 Jun 22 doi: 10.1038/gim.2017.79. PMID: 28640247
Berruezo A, Penela D, Burgos F, Evertz R, Fernández-Armenta J, Roca J, Doltra A, Acosta J, Francino A, Sitges M, Alsina X, Ordoñez A, Villuendas R, Brugada R, Mont L, Brugada J
Heart Rhythm 2015 May;12(5):909-16. Epub 2015 Jan 23 doi: 10.1016/j.hrthm.2015.01.032. PMID: 25623178

Diagnosis

Hughes RK, Camaioni C, Augusto JB, Knott K, Quinn E, Captur G, Seraphim A, Joy G, Syrris P, Elliott PM, Mohiddin S, Kellman P, Xue H, Lopes LR, Moon JC
J Am Heart Assoc 2021 Aug 3;10(15):e020227. Epub 2021 Jul 27 doi: 10.1161/JAHA.120.020227. PMID: 34310159Free PMC Article
Canepa M, Fumagalli C, Tini G, Vincent-Tompkins J, Day SM, Ashley EA, Mazzarotto F, Ware JS, Michels M, Jacoby D, Ho CY, Olivotto I; SHaRe Investigators.
Circ Heart Fail 2020 Sep;13(9):e007230. Epub 2020 Sep 8 doi: 10.1161/CIRCHEARTFAILURE.120.007230. PMID: 32894986Free PMC Article
Salazar-Mendiguchía J, Ochoa JP, Palomino-Doza J, Domínguez F, Díez-López C, Akhtar M, Ramiro-León S, Clemente MM, Pérez-Cejas A, Robledo M, Gómez-Díaz I, Peña-Peña ML, Climent V, Salmerón-Martínez F, Hernández C, García-Granja PE, Mogollón MV, Cárdenas-Reyes I, Cicerchia M, García-Giustiniani D, Lamounier A Jr, Gil-Fournier B, Díaz-Flores F, Salguero R, Santomé L, Syrris P, Olivé M, García-Pavía P, Ortiz-Genga M, Elliott PM, Monserrat L; GENESCOPIC Research Group.
Heart 2020 Sep;106(17):1342-1348. Epub 2020 May 25 doi: 10.1136/heartjnl-2020-316913. PMID: 32451364Free PMC Article
Wang B, Wang J, Wang LF, Yang F, Xu L, Li WX, He Y, Zuo L, Yang QL, Shao H, Hu D, Liu LW
Mol Med Rep 2019 Dec;20(6):5229-5238. Epub 2019 Oct 16 doi: 10.3892/mmr.2019.10754. PMID: 31638223Free PMC Article
Ko C, Arscott P, Concannon M, Saberi S, Day SM, Yashar BM, Helms AS
Genet Med 2018 Jan;20(1):69-75. Epub 2017 Jun 22 doi: 10.1038/gim.2017.79. PMID: 28640247

Therapy

Cirino AL, Lakdawala NK, McDonough B, Conner L, Adler D, Weinfeld M, O'Gara P, Rehm HL, Machini K, Lebo M, Blout C, Green RC, MacRae CA, Seidman CE, Ho CY; MedSeq Project*.
Circ Cardiovasc Genet 2017 Oct;10(5) doi: 10.1161/CIRCGENETICS.117.001768. PMID: 29030401Free PMC Article
Gómez J, Lorca R, Reguero JR, Morís C, Martín M, Tranche S, Alonso B, Iglesias S, Alvarez V, Díaz-Molina B, Avanzas P, Coto E
Circ Cardiovasc Genet 2017 Apr;10(2) doi: 10.1161/CIRCGENETICS.116.001584. PMID: 28356264
de Gregorio C, Dattilo G, Casale M, Terrizzi A, Donato R, Di Bella G
Circ J 2016 Jul 25;80(8):1830-7. Epub 2016 Jun 28 doi: 10.1253/circj.CJ-16-0364. PMID: 27350016
Berruezo A, Penela D, Burgos F, Evertz R, Fernández-Armenta J, Roca J, Doltra A, Acosta J, Francino A, Sitges M, Alsina X, Ordoñez A, Villuendas R, Brugada R, Mont L, Brugada J
Heart Rhythm 2015 May;12(5):909-16. Epub 2015 Jan 23 doi: 10.1016/j.hrthm.2015.01.032. PMID: 25623178
Kubo T, Kitaoka H, Okawa M, Baba Y, Hirota T, Hayato K, Yamasaki N, Matsumura Y, Otsuka H, Arimura T, Kimura A, Doi YL
Circ J 2011;75(11):2654-9. Epub 2011 Jul 29 doi: 10.1253/circj.cj-10-1314. PMID: 21799269

Prognosis

Velicki L, Jakovljevic DG, Preveden A, Golubovic M, Bjelobrk M, Ilic A, Stojsic S, Barlocco F, Tafelmeier M, Okwose N, Tesic M, Brennan P, Popovic D, Ristic A, MacGowan GA, Filipovic N, Maier LS, Olivotto I
BMC Cardiovasc Disord 2020 Dec 9;20(1):516. doi: 10.1186/s12872-020-01807-4. PMID: 33297970Free PMC Article
Du Y, Wang Y, Han X, Feng Z, Ma A
Int Heart J 2019 Nov 30;60(6):1415-1420. Epub 2019 Nov 15 doi: 10.1536/ihj.19-146. PMID: 31735781
Wang B, Wang J, Wang LF, Yang F, Xu L, Li WX, He Y, Zuo L, Yang QL, Shao H, Hu D, Liu LW
Mol Med Rep 2019 Dec;20(6):5229-5238. Epub 2019 Oct 16 doi: 10.3892/mmr.2019.10754. PMID: 31638223Free PMC Article
Norrish G, Field E, Mcleod K, Ilina M, Stuart G, Bhole V, Uzun O, Brown E, Daubeney PEF, Lota A, Linter K, Mathur S, Bharucha T, Kok KL, Adwani S, Jones CB, Reinhardt Z, Kaski JP
Eur Heart J 2019 Mar 21;40(12):986-993. doi: 10.1093/eurheartj/ehy798. PMID: 30535072Free PMC Article
Ko C, Arscott P, Concannon M, Saberi S, Day SM, Yashar BM, Helms AS
Genet Med 2018 Jan;20(1):69-75. Epub 2017 Jun 22 doi: 10.1038/gim.2017.79. PMID: 28640247

Clinical prediction guides

Du Y, Wang Y, Han X, Feng Z, Ma A
Int Heart J 2019 Nov 30;60(6):1415-1420. Epub 2019 Nov 15 doi: 10.1536/ihj.19-146. PMID: 31735781
Fernlund E, Liuba P, Carlson J, Platonov PG, Schlegel TT
J Electrocardiol 2016 May-Jun;49(3):392-400. Epub 2016 Mar 14 doi: 10.1016/j.jelectrocard.2016.03.001. PMID: 27061026
Klarich KW, Attenhofer Jost CH, Binder J, Connolly HM, Scott CG, Freeman WK, Ackerman MJ, Nishimura RA, Tajik AJ, Ommen SR
Am J Cardiol 2013 Jun 15;111(12):1784-91. Epub 2013 Mar 27 doi: 10.1016/j.amjcard.2013.02.040. PMID: 23540548
Maron BJ, Maron MS, Semsarian C
J Am Coll Cardiol 2012 Aug 21;60(8):705-15. Epub 2012 Jul 11 doi: 10.1016/j.jacc.2012.02.068. PMID: 22796258
Wheeler M, Pavlovic A, DeGoma E, Salisbury H, Brown C, Ashley EA
J Cardiovasc Transl Res 2009 Dec;2(4):381-91. Epub 2009 Oct 30 doi: 10.1007/s12265-009-9139-0. PMID: 20559996
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