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Hypertrophic cardiomyopathy 26(CMH26)

MedGen UID:: 934716
•Concept ID:: C4310749
•: Disease or Syndrome

Synonym:	Cardiomyopathy, familial hypertrophic, 26

Gene (location): Gene(s) directly associated with this condition or phenotype.	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).

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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Left atrial enlargement

MedGen UID:: 536845
•Concept ID:: C0238705
•: Finding

Increase in size of the left atrium.

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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.

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Right atrial enlargement

MedGen UID:: 677114
•Concept ID:: C0748427
•: Disease or Syndrome

Increase in size of the right atrium.

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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.

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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.

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Abnormality of the cardiovascular system
Constitutional symptom
- Sudden cardiac death

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHypertrophic cardiomyopathy 26

Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
  - Abnormal heart morphology
    - Abnormal myocardium morphology
      - Cardiomyopathy
        Primary familial hypertrophic cardiomyopathy
        Hypertrophic cardiomyopathy 26

Professional guidelines

PubMed

Apical hypertrophic cardiomyopathy: clinical follow-up and diagnostic correlates.

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

See all (1)

Recent clinical studies

Etiology

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

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: 33673806 Free 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

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: 25524337 Free PMC Article

Genetics of hypertrophic cardiomyopathy in Norway.

Berge KE, Leren TP
Clin Genet 2014 Oct;86(4):355-60. Epub 2013 Oct 23 doi: 10.1111/cge.12286. PMID: 24111713

Arrhythmias and sudden death in hypertrophic cardiomyopathy.

McKenna WJ, Firoozi S, Sharma S
Card Electrophysiol Rev 2002 Feb;6(1-2):26-31. doi: 10.1023/a:1017966518021. PMID: 11984011

See all (793)

Diagnosis

Detect and define ventricular arrhythmia substrates in hypertrophic cardiomyopathy.

Wang J, Chen X, Zhao S
Eur Heart J 2024 Jul 9;45(26):2343-2344. doi: 10.1093/eurheartj/ehae312. PMID: 38820199

Genetic Basis of Childhood Cardiomyopathy.

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

A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.

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: 34542152 Free PMC Article

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

See all (621)

Therapy

Real-world candidacy to mavacamten in a contemporary hypertrophic obstructive cardiomyopathy population.

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

Effects of Mavacamten on Measures of Cardiopulmonary Exercise Testing Beyond Peak Oxygen Consumption: A Secondary Analysis of the EXPLORER-HCM Randomized Trial.

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: 36652223 Free 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

Induced pluripotent stem cells in the inherited cardiomyopathies: From disease mechanisms to novel therapies.

Ross SB, Fraser ST, Semsarian C
Trends Cardiovasc Med 2016 Nov;26(8):663-672. Epub 2016 May 11 doi: 10.1016/j.tcm.2016.05.001. PMID: 27296521

Myocardial bridging.

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

See all (269)

Prognosis

Society for Cardiovascular Magnetic Resonance 2022 Cases of SCMR case series.

Johnson JN, Pouraliakbar H, Mahdavi M, Ranjbar A, Pfirman K, Mehra V, Ahmed S, Ba-Atiyah W, Galal MO, Zahr RA, Hussain N, Tadikamalla RR, Farah V, Dzelebdzic S, Muniz JC, Lee M, Williams J, Lee S, Aggarwal SK, Clark DE, Hughes SG, Ganigara M, Nagiub M, Hussain T, Kwok C, Lim HS, Nolan M, Kikuchi DS, Goulbourne CA, Sahu A, Sievers B, Sievers B, Sievers B, Garg R, Armas CR, Paleru V, Agarwal R, Rajagopal R, Bhagirath P, Kozor R, Aneja A, Tunks R, Chen SSM
J Cardiovasc Magn Reson 2024 Summer;26(1):100007. Epub 2023 Dec 23 doi: 10.1016/j.jocmr.2023.100007. PMID: 38211509 Free PMC Article

Genetic Basis of Childhood Cardiomyopathy.

A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

See all (545)

Clinical prediction guides

Artificial Intelligence Interpretation of the Electrocardiogram: A State-of-the-Art Review.

Ose B, Sattar Z, Gupta A, Toquica C, Harvey C, Noheria A
Curr Cardiol Rep 2024 Jun;26(6):561-580. Epub 2024 May 16 doi: 10.1007/s11886-024-02062-1. PMID: 38753291

A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

Herkert JC, Verhagen JMA, Yotti R, Haghighi A, Phelan DG, James PA, Brown NJ, Stutterd C, Macciocca I, Leong K, Bulthuis MLC, van Bever Y, van Slegtenhorst MA, Boven LG, Roberts AE, Agarwal R, Seidman J, Lakdawala NK, Fernández-Avilés F, Burke MA, Pierpont ME, Braunlin E, Ḉağlayan AO, Barge-Schaapveld DQCM, Birnie E, van Osch-Gevers L, van Langen IM, Jongbloed JDH, Lockhart PJ, Amor DJ, Seidman CE, van de Laar IMBH
Am Heart J 2020 Jul;225:108-119. Epub 2020 Apr 21 doi: 10.1016/j.ahj.2020.03.023. PMID: 32480058

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

See all (511)

Recent systematic reviews

Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.

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

Ischaemic events in hypertrophic cardiomyopathy patients with and without atrial fibrillation: a systematic review and meta-analysis.

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

Factors associated with the risk of cardiac death in children with hypertrophic cardiomyopathy: a systematic review and meta-analysis.

Xia K, Sun D, Wang R, Zhang Y
Heart Lung 2022 Mar-Apr;52:26-36. Epub 2021 Nov 24 doi: 10.1016/j.hrtlng.2021.11.006. PMID: 34837725

Assessment of Postnatal Corticosteroids for the Prevention of Bronchopulmonary Dysplasia in Preterm Neonates: A Systematic Review and Network Meta-analysis.

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: 33720274 Free PMC Article

Catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: a systematic review and meta-analysis.

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

See all (22)

MedGen

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Hypertrophic cardiomyopathy 26(CMH26)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

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