U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypertrophic cardiomyopathy 26(CMH26)

MedGen UID:
934716
Concept ID:
C4310749
Disease or Syndrome
Synonym: Cardiomyopathy, familial hypertrophic, 26
 
Gene (location): FLNC (7q32.1)
 
Monarch Initiative: MONDO:0014883
OMIM®: 617047

Definition

Familial cardiomyopathy caused by mutation in the FLNC gene has been described as hypertrophic, restrictive, dilated, or arrhythmogenic right ventricular cardiomyopathy. Affected individuals, especially those with dilated cardiomyopathy, are at risk for arrhythmias and sudden death. Arrhythmias without cardiomyopathy, and left ventricular noncompaction, have also been reported (Ortiz-Genga et al., 2016; Verdonschot et al., 2020). [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.
Atrioventricular block
MedGen UID:
13956
Concept ID:
C0004245
Disease or Syndrome
Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
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.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Left bundle branch block
MedGen UID:
7286
Concept ID:
C0023211
Disease or Syndrome
A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
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.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.
Left anterior fascicular block
MedGen UID:
75547
Concept ID:
C0264912
Disease or Syndrome
Conduction block in the anterior division of the left bundle branch of the bundle of His.
Right atrial enlargement
MedGen UID:
677114
Concept ID:
C0748427
Disease or Syndrome
Increase in size of the right atrium.
Prolonged QTc interval
MedGen UID:
294666
Concept ID:
C1560305
Pathologic Function
A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.
Permanent atrial fibrillation
MedGen UID:
750308
Concept ID:
C2586056
Pathologic Function
Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.

Term Hierarchy

Professional guidelines

PubMed

Webb JG, Sasson Z, Rakowski H, Liu P, Wigle ED
J Am Coll Cardiol 1990 Jan;15(1):83-90. doi: 10.1016/0735-1097(90)90180-w. PMID: 2295747

Recent clinical studies

Etiology

Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J
BMC Cardiovasc Disord 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. PMID: 33673806Free 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
Vaidya K, Semsarian C, Chan KH
Heart Lung Circ 2017 Sep;26(9):975-982. Epub 2017 May 23 doi: 10.1016/j.hlc.2017.05.116. PMID: 28602671
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
Berge KE, Leren TP
Clin Genet 2014 Oct;86(4):355-60. Epub 2013 Oct 23 doi: 10.1111/cge.12286. PMID: 24111713

Diagnosis

Kaski JP, Norrish G, Gimeno Blanes JR, Charron P, Elliott P, Tavazzi L, Tendera M, Laroche C, Maggioni AP, Baban A, Khraiche D, Ziolkowska L, Limongelli G, Ojala T, Gorenflo M, Anastasakis A, Mostafa S, Caforio ALP; EORP Paediatric Cardiomyopathy Registry Investigators
Eur Heart J 2024 Apr 21;45(16):1443-1454. doi: 10.1093/eurheartj/ehae109. PMID: 38427064Free PMC Article
Bagnall RD, Singer ES, Wacker J, Nowak N, Ingles J, King I, Macciocca I, Crowe J, Ronan A, Weintraub RG, Semsarian C
Circ Genom Precis Med 2022 Dec;15(6):e003686. Epub 2022 Oct 11 doi: 10.1161/CIRCGEN.121.003686. PMID: 36252119
Park J, Packard EA, Levin MG, Judy RL; Regeneron Genetics Center, Damrauer SM, Day SM, Ritchie MD, Rader DJ
Hum Mol Genet 2022 Mar 3;31(5):827-837. doi: 10.1093/hmg/ddab249. PMID: 34542152Free PMC Article
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J
BMC Cardiovasc Disord 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. PMID: 33673806Free PMC Article
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

Wheeler MT, Olivotto I, Elliott PM, Saberi S, Owens AT, Maurer MS, Masri A, Sehnert AJ, Edelberg JM, Chen YM, Florea V, Malhotra R, Wang A, Oreziak A, Myers J
JAMA Cardiol 2023 Mar 1;8(3):240-247. doi: 10.1001/jamacardio.2022.5099. PMID: 36652223Free PMC Article
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
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
Andries G, Yandrapalli S, Naidu SS, Panza JA
Cardiol Rev 2018 Sep/Oct;26(5):239-244. doi: 10.1097/CRD.0000000000000211. PMID: 29746257
Vaidya K, Semsarian C, Chan KH
Heart Lung Circ 2017 Sep;26(9):975-982. Epub 2017 May 23 doi: 10.1016/j.hlc.2017.05.116. PMID: 28602671

Prognosis

Bagnall RD, Singer ES, Wacker J, Nowak N, Ingles J, King I, Macciocca I, Crowe J, Ronan A, Weintraub RG, Semsarian C
Circ Genom Precis Med 2022 Dec;15(6):e003686. Epub 2022 Oct 11 doi: 10.1161/CIRCGEN.121.003686. PMID: 36252119
Park J, Packard EA, Levin MG, Judy RL; Regeneron Genetics Center, Damrauer SM, Day SM, Ritchie MD, Rader DJ
Hum Mol Genet 2022 Mar 3;31(5):827-837. doi: 10.1093/hmg/ddab249. PMID: 34542152Free PMC Article
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J
BMC Cardiovasc Disord 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. PMID: 33673806Free PMC Article
Vaidya K, Semsarian C, Chan KH
Heart Lung Circ 2017 Sep;26(9):975-982. Epub 2017 May 23 doi: 10.1016/j.hlc.2017.05.116. PMID: 28602671
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

Vissing CR, Axelsson Raja A, Day SM, Russell MW, Zahka K, Lever HM, Pereira AC, Colan SD, Margossian R, Murphy AM, Canter C, Bach RG, Wheeler MT, Rossano JW, Owens AT, Benson L, Mestroni L, Taylor MRG, Patel AR, Wilmot I, Thrush P, Soslow JH, Becker JR, Seidman CE, Lakdawala NK, Cirino AL, McMurray JJV, MacRae CA, Solomon SD, Bundgaard H, Orav EJ, Ho CY; Valsartan for Attenuating Disease Evolution in Early Sarcomeric Hypertrophic Cardiomyopathy (VANISH) Investigators
JAMA Cardiol 2023 Nov 1;8(11):1083-1088. doi: 10.1001/jamacardio.2023.2808. PMID: 37672268Free PMC Article
Park J, Packard EA, Levin MG, Judy RL; Regeneron Genetics Center, Damrauer SM, Day SM, Ritchie MD, Rader DJ
Hum Mol Genet 2022 Mar 3;31(5):827-837. doi: 10.1093/hmg/ddab249. PMID: 34542152Free PMC Article
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J
BMC Cardiovasc Disord 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. PMID: 33673806Free 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
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

Recent systematic reviews

Monda E, Diana G, Graziani F, Rubino M, Bakalakos A, Linhart A, Germain DP, Scarpa M, Biagini E, Pieroni M, Elliott PM, Limongelli G
Circ Genom Precis Med 2023 Dec;16(6):e004252. Epub 2023 Dec 4 doi: 10.1161/CIRCGEN.123.004252. PMID: 38047356
Ye TTS, Siah QZ, Tan BYQ, Ho JSY, Syn NLX, Teo YH, Teo YN, Yip JW, Yeo TC, Lin W, Wong RCC, Chai P, Chan B, Sharma VK, Yeo LLL, Sia CH
J Thromb Thrombolysis 2023 Jan;55(1):83-91. Epub 2022 Oct 3 doi: 10.1007/s11239-022-02713-6. PMID: 36192663
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
Providencia R, Elliott P, Patel K, McCready J, Babu G, Srinivasan N, Bronis K, Papageorgiou N, Chow A, Rowland E, Lowe M, Segal OR, Lambiase PD
Heart 2016 Oct 1;102(19):1533-43. Epub 2016 May 27 doi: 10.1136/heartjnl-2016-309406. PMID: 27234160
Schinkel AF
Cardiol Rev 2014 Sep-Oct;22(5):217-22. doi: 10.1097/CRD.0000000000000010. PMID: 25093741

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...