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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
Azevedo PMO, Guerreiro C, Ladeiras-Lopes R, Ferreira N, Faria R, Barbosa R, Primo J, Braga J
Cardiology 2020;145(5):303-308. Epub 2020 Feb 4 doi: 10.1159/000505639. PMID: 32018270
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
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

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
Azevedo PMO, Guerreiro C, Ladeiras-Lopes R, Ferreira N, Faria R, Barbosa R, Primo J, Braga J
Cardiology 2020;145(5):303-308. Epub 2020 Feb 4 doi: 10.1159/000505639. PMID: 32018270
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

Bertero E, Chiti C, Schiavo MA, Tini G, Costa P, Todiere G, Mabritto B, Dei LL, Giannattasio A, Mariani D, Lofiego C, Santolamazza C, Monda E, Quarta G, Barbisan D, Mandoli GE, Mapelli M, Sguazzotti M, Negri F, De Vecchi S, Ciabatti M, Tomasoni D, Mazzanti A, Marzo F, de Gregorio C, Raineri C, Vianello PF, Marchi A, Biagioni G, Insinna E, Parisi V, Ditaranto R, Barison A, Giammarresi A, De Ferrari GM, Priori S, Metra M, Pieroni M, Patti G, Imazio M, Perugini E, Agostoni P, Cameli M, Merlo M, Sinagra G, Senni M, Limongelli G, Ammirati E, Vagnarelli F, Crotti L, Badano L, Calore C, Gabrielli D, Re F, Musumeci G, Emdin M, Barbato E, Musumeci B, Autore C, Biagini E, Porto I, Olivotto I, Canepa M
Eur J Heart Fail 2024 Jan;26(1):59-64. Epub 2024 Jan 2 doi: 10.1002/ejhf.3120. PMID: 38131253
Segev A, Wasserstrum Y, Arad M, Larrañaga-Moreira JM, Martinez-Veira C, Barriales-Villa R, Sabbag A
Heart Rhythm 2023 Oct;20(10):1385-1392. Epub 2023 Jun 27 doi: 10.1016/j.hrthm.2023.06.015. PMID: 37385464
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
Alegria JR, Herrmann J, Holmes DR Jr, Lerman A, Rihal CS
Eur Heart J 2005 Jun;26(12):1159-68. Epub 2005 Mar 11 doi: 10.1093/eurheartj/ehi203. PMID: 15764618

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
Correale M, Tricarico L, Leopizzi A, Mallardi A, Mazzeo P, Tucci S, Grazioli D, Di Biase M, Brunetti ND
Panminerva Med 2020 Mar;62(1):26-37. Epub 2019 Oct 25 doi: 10.23736/S0031-0808.19.03768-6. PMID: 31670498
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
Segev A, Wasserstrum Y, Arad M, Larrañaga-Moreira JM, Martinez-Veira C, Barriales-Villa R, Sabbag A
Heart Rhythm 2023 Oct;20(10):1385-1392. Epub 2023 Jun 27 doi: 10.1016/j.hrthm.2023.06.015. PMID: 37385464
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
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

Zhao H, Tan Z, Liu M, Yu P, Ma J, Li X, Wang J, Zhao Y, Zhu W, Liu X
J Am Heart Assoc 2023 Jun 6;12(11):e026270. Epub 2023 May 26 doi: 10.1161/JAHA.122.026270. PMID: 37232242Free PMC Article
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

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