U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cardiomyopathy, familial hypertrophic, 28(CMH28)

MedGen UID:
1779612
Concept ID:
C5543616
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
 
Gene (location): FHOD3 (18q12.2)
 
Monarch Initiative: MONDO:0030317
OMIM®: 619402

Definition

Familial hypertrophic cardiomyopathy-28 (CMH28) is characterized by asymmetric septal hypertrophy, atrial fibrillation and nonsustained ventricular tachycardia, and risk of sudden death. Dyspnea is the most common symptom, but more than half of affected individuals are asymptomatic. Hypertrabeculation of the left ventricle with noncompaction has been observed in some patients (Ochoa et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of familial 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).
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.
Left ventricular outflow tract obstruction
MedGen UID:
6031
Concept ID:
C0023213
Disease or Syndrome
Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.
Stroke disorder
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Asymmetric septal hypertrophy
MedGen UID:
104705
Concept ID:
C0205700
Disease or Syndrome
Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.
Concentric hypertrophic cardiomyopathy
MedGen UID:
68651
Concept ID:
C0238044
Finding
Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.
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.
Systolic anterior motion of the mitral valve
MedGen UID:
1664719
Concept ID:
C4049276
Finding
Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.
Apical hypertrophic cardiomyopathy
MedGen UID:
1671104
Concept ID:
C4732796
Disease or Syndrome
Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.
Myocardial late gadolinium enhancement
MedGen UID:
1783233
Concept ID:
C5539856
Finding
Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.

Professional guidelines

PubMed

Curran L, de Marvao A, Inglese P, McGurk KA, Schiratti PR, Clement A, Zheng SL, Li S, Pua CJ, Shah M, Jafari M, Theotokis P, Buchan RJ, Jurgens SJ, Raphael CE, Baksi AJ, Pantazis A, Halliday BP, Pennell DJ, Bai W, Chin CWL, Tadros R, Bezzina CR, Watkins H, Cook SA, Prasad SK, Ware JS, O'Regan DP
Circ Genom Precis Med 2023 Dec;16(6):e004200. Epub 2023 Nov 28 doi: 10.1161/CIRCGEN.123.004200. PMID: 38014537Free PMC Article
Nightingale BM, Hovick SR, Brock P, Callahan E, Jordan E, Roggenbuck J, Sturm AC, Morales A
J Genet Couns 2019 Dec;28(6):1087-1097. Epub 2019 Aug 13 doi: 10.1002/jgc4.1159. PMID: 31408576
Fitzgerald-Butt SM, Byrne L, Gerhardt CA, Vannatta K, Hoffman TM, McBride KL
Pediatr Cardiol 2010 Feb;31(2):195-202. Epub 2009 Dec 1 doi: 10.1007/s00246-009-9583-2. PMID: 19949785

Recent clinical studies

Etiology

Curran L, de Marvao A, Inglese P, McGurk KA, Schiratti PR, Clement A, Zheng SL, Li S, Pua CJ, Shah M, Jafari M, Theotokis P, Buchan RJ, Jurgens SJ, Raphael CE, Baksi AJ, Pantazis A, Halliday BP, Pennell DJ, Bai W, Chin CWL, Tadros R, Bezzina CR, Watkins H, Cook SA, Prasad SK, Ware JS, O'Regan DP
Circ Genom Precis Med 2023 Dec;16(6):e004200. Epub 2023 Nov 28 doi: 10.1161/CIRCGEN.123.004200. PMID: 38014537Free PMC Article
Rajab BS
Curr Cardiol Rev 2023;19(2):e250822208003. doi: 10.2174/1573403X18666220825153725. PMID: 36028969Free PMC Article
Lin LR, Hu XQ, Lu LH, Dai JZ, Lin NN, Wang RH, Xie ZX, Chen XM
BMC Cardiovasc Disord 2022 Jun 18;22(1):278. doi: 10.1186/s12872-022-02714-6. PMID: 35717150Free PMC Article
Bennett RG, Haqqani HM, Berruezo A, Della Bella P, Marchlinski FE, Hsu CJ, Kumar S
Heart Lung Circ 2019 Jan;28(1):164-177. Epub 2018 Oct 24 doi: 10.1016/j.hlc.2018.10.013. PMID: 30446243
Cardoso B, Gomes I, Loureiro P, Trigo C, Ferreira Pinto F
Rev Port Cardiol 2017 Mar;36(3):155-165. Epub 2017 Feb 15 doi: 10.1016/j.repc.2016.09.009. PMID: 28214152

Diagnosis

Kim MJ, Cha S, Baek JS, Yu JJ, Seo GH, Kang M, Do HS, Lee SE, Lee BH
BMC Med Genomics 2023 Oct 30;16(1):270. doi: 10.1186/s12920-023-01639-z. PMID: 37904158Free PMC Article
Lin LR, Hu XQ, Lu LH, Dai JZ, Lin NN, Wang RH, Xie ZX, Chen XM
BMC Cardiovasc Disord 2022 Jun 18;22(1):278. doi: 10.1186/s12872-022-02714-6. PMID: 35717150Free PMC Article
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
Bennett RG, Haqqani HM, Berruezo A, Della Bella P, Marchlinski FE, Hsu CJ, Kumar S
Heart Lung Circ 2019 Jan;28(1):164-177. Epub 2018 Oct 24 doi: 10.1016/j.hlc.2018.10.013. PMID: 30446243
Cardoso B, Gomes I, Loureiro P, Trigo C, Ferreira Pinto F
Rev Port Cardiol 2017 Mar;36(3):155-165. Epub 2017 Feb 15 doi: 10.1016/j.repc.2016.09.009. PMID: 28214152

Therapy

Guttmann OP, Pavlou M, O'Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators
Heart 2017 May;103(9):672-678. Epub 2016 Oct 28 doi: 10.1136/heartjnl-2016-309672. PMID: 27794017
Elliott P, Charron P, Blanes JR, Tavazzi L, Tendera M, Konté M, Laroche C, Maggioni AP; EORP Cardiomyopathy Registry Pilot Investigators
Eur Heart J 2016 Jan 7;37(2):164-73. Epub 2015 Sep 25 doi: 10.1093/eurheartj/ehv497. PMID: 26409010
Gaffin RD, Peña JR, Alves MS, Dias FA, Chowdhury SA, Heinrich LS, Goldspink PH, Kranias EG, Wieczorek DF, Wolska BM
J Mol Cell Cardiol 2011 Nov;51(5):812-20. Epub 2011 Aug 5 doi: 10.1016/j.yjmcc.2011.07.026. PMID: 21840315Free PMC Article
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
Charron P, Dubourg O, Desnos M, Bouhour JB, Isnard R, Hagege A, Carrier L, Bonne G, Tesson F, Richard P, Hainque B, Schwartz K, Komajda M
Eur Heart J 1998 Sep;19(9):1377-82. doi: 10.1053/euhj.1998.1049. PMID: 9792264

Prognosis

Kim MJ, Cha S, Baek JS, Yu JJ, Seo GH, Kang M, Do HS, Lee SE, Lee BH
BMC Med Genomics 2023 Oct 30;16(1):270. doi: 10.1186/s12920-023-01639-z. PMID: 37904158Free PMC Article
Lin LR, Hu XQ, Lu LH, Dai JZ, Lin NN, Wang RH, Xie ZX, Chen XM
BMC Cardiovasc Disord 2022 Jun 18;22(1):278. doi: 10.1186/s12872-022-02714-6. PMID: 35717150Free PMC Article
van Velzen HG, Schinkel AFL, Baart SJ, Oldenburg RA, Frohn-Mulder IME, van Slegtenhorst MA, Michels M
Circ Genom Precis Med 2018 Apr;11(4):e001896. doi: 10.1161/CIRCGEN.117.001896. PMID: 29661763
Blackshear JL, Safford RE, Thomas CS, Bos JM, Ackerman MJ, Geske JB, Ommen SR, Shapiro BP, Johns GS
Am J Cardiol 2018 Mar 15;121(6):768-774. Epub 2017 Dec 25 doi: 10.1016/j.amjcard.2017.12.009. PMID: 29397107
Guttmann OP, Pavlou M, O'Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators
Heart 2017 May;103(9):672-678. Epub 2016 Oct 28 doi: 10.1136/heartjnl-2016-309672. PMID: 27794017

Clinical prediction guides

Lin LR, Hu XQ, Lu LH, Dai JZ, Lin NN, Wang RH, Xie ZX, Chen XM
BMC Cardiovasc Disord 2022 Jun 18;22(1):278. doi: 10.1186/s12872-022-02714-6. PMID: 35717150Free PMC Article
van Velzen HG, Schinkel AFL, Baart SJ, Oldenburg RA, Frohn-Mulder IME, van Slegtenhorst MA, Michels M
Circ Genom Precis Med 2018 Apr;11(4):e001896. doi: 10.1161/CIRCGEN.117.001896. PMID: 29661763
Blackshear JL, Safford RE, Thomas CS, Bos JM, Ackerman MJ, Geske JB, Ommen SR, Shapiro BP, Johns GS
Am J Cardiol 2018 Mar 15;121(6):768-774. Epub 2017 Dec 25 doi: 10.1016/j.amjcard.2017.12.009. PMID: 29397107
Guttmann OP, Pavlou M, O'Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators
Heart 2017 May;103(9):672-678. Epub 2016 Oct 28 doi: 10.1136/heartjnl-2016-309672. PMID: 27794017
Ntusi NA, Shaboodien G, Badri M, Gumedze F, Mayosi BM
Cardiovasc J Afr 2016 May/Jun;27(3):152-158. doi: 10.5830/CVJA-2015-075. PMID: 27841901Free PMC Article

Recent systematic reviews

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...