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Cardiomyopathy, familial hypertrophic, 26(CMH26)

MedGen UID:
934716
Concept ID:
C4310749
Disease or Syndrome
Synonym: CMH26
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): FLNC (7q32.1)
 
Monarch Initiative: MONDO:0014883
OMIM®: 617047

Definition

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC 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)
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.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Finding
Dysfunction of the mitral valve characterized by incomplete valve closure.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.

Professional guidelines

Recent clinical studies

Etiology

Tunca Sahin G, Ozgur S, Kafali HC, Sevinc Sengul F, Haydin S, Guzeltas A, Ergul Y
Pediatr Int 2021 Jan;63(1):37-45. Epub 2020 Dec 5 doi: 10.1111/ped.14393. PMID: 32682351
Bonura ED, Bos JM, Abdelsalam MA, Araoz PA, Ommen SR, Ackerman MJ, Geske JB
Am J Cardiol 2020 Apr 15;125(8):1249-1255. Epub 2020 Jan 28 doi: 10.1016/j.amjcard.2020.01.027. PMID: 32088002
Lopes LR, Futema M, Akhtar MM, Lorenzini M, Pittman A, Syrris P, Elliott PM
Amyloid 2019 Dec;26(4):243-247. Epub 2019 Sep 25 doi: 10.1080/13506129.2019.1665996. PMID: 31554435
Feng X, He T, Wang JG, Zhao P
Int Heart J 2018 May 30;59(3):596-600. Epub 2018 May 9 doi: 10.1536/ihj.17-250. PMID: 29743414
Wei YL, Yu CA, Yang P, Li AL, Wen JY, Zhao SM, Liu HX, Ke YN, Campbell W, Zhang YG, Li XH, Liao WQ
Clin Exp Pharmacol Physiol 2009 Sep;36(9):933-9. Epub 2009 Mar 26 doi: 10.1111/j.1440-1681.2009.05183.x. PMID: 19473338

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
Tunca Sahin G, Ozgur S, Kafali HC, Sevinc Sengul F, Haydin S, Guzeltas A, Ergul Y
Pediatr Int 2021 Jan;63(1):37-45. Epub 2020 Dec 5 doi: 10.1111/ped.14393. PMID: 32682351
Lopes LR, Futema M, Akhtar MM, Lorenzini M, Pittman A, Syrris P, Elliott PM
Amyloid 2019 Dec;26(4):243-247. Epub 2019 Sep 25 doi: 10.1080/13506129.2019.1665996. PMID: 31554435
Feng X, He T, Wang JG, Zhao P
Int Heart J 2018 May 30;59(3):596-600. Epub 2018 May 9 doi: 10.1536/ihj.17-250. PMID: 29743414
Wei YL, Yu CA, Yang P, Li AL, Wen JY, Zhao SM, Liu HX, Ke YN, Campbell W, Zhang YG, Li XH, Liao WQ
Clin Exp Pharmacol Physiol 2009 Sep;36(9):933-9. Epub 2009 Mar 26 doi: 10.1111/j.1440-1681.2009.05183.x. PMID: 19473338

Therapy

Vanninen SUM, Leivo K, Seppälä EH, Aalto-Setälä K, Pitkänen O, Suursalmi P, Annala AP, Anttila I, Alastalo TP, Myllykangas S, Heliö TM, Koskenvuo JW
PLoS One 2018;13(9):e0203422. Epub 2018 Sep 20 doi: 10.1371/journal.pone.0203422. PMID: 30235249Free PMC Article
Oder D, Liu D, Hu K, Üçeyler N, Salinger T, Müntze J, Lorenz K, Kandolf R, Gröne HJ, Sommer C, Ertl G, Wanner C, Nordbeck P
Circ Cardiovasc Genet 2017 Oct;10(5) doi: 10.1161/CIRCGENETICS.116.001691. PMID: 29018006
Selbst SM
Pediatr Emerg Care 2010 Oct;26(10):778-81. doi: 10.1097/PEC.0b013e3181f4c15c. PMID: 20930605

Prognosis

Itzhaki Ben Zadok O, Hasdai D, Witberg G, Shapira Y, Vaturi M, Monakier D
Am J Cardiol 2018 Nov 1;122(9):1551-1556. Epub 2018 Aug 3 doi: 10.1016/j.amjcard.2018.07.014. PMID: 30197054
Biagini E, Olivotto I, Iascone M, Parodi MI, Girolami F, Frisso G, Autore C, Limongelli G, Cecconi M, Maron BJ, Maron MS, Rosmini S, Formisano F, Musumeci B, Cecchi F, Iacovoni A, Haas TS, Bacchi Reggiani ML, Ferrazzi P, Salvatore F, Spirito P, Rapezzi C
Am J Cardiol 2014 Sep 1;114(5):769-76. Epub 2014 Jun 19 doi: 10.1016/j.amjcard.2014.05.065. PMID: 25037680
Luni FK, Moza A, Sheikh M, Coker MF, Chaganti SK, Lewis TJ, Kanjwal Y
Tex Heart Inst J 2013;40(4):465-7. PMID: 24082381Free PMC Article
Jensen MK, Havndrup O, Christiansen M, Andersen PS, Diness B, Axelsson A, Skovby F, Køber L, Bundgaard H
Circulation 2013 Jan 1;127(1):48-54. Epub 2012 Nov 28 doi: 10.1161/CIRCULATIONAHA.111.090514. PMID: 23197161
Wilkinson JD, Lowe AM, Salbert BA, Sleeper LA, Colan SD, Cox GF, Towbin JA, Connuck DM, Messere JE, Lipshultz SE
Am Heart J 2012 Sep;164(3):442-8. Epub 2012 Aug 9 doi: 10.1016/j.ahj.2012.04.018. PMID: 22980313

Clinical prediction guides

Bonura ED, Bos JM, Abdelsalam MA, Araoz PA, Ommen SR, Ackerman MJ, Geske JB
Am J Cardiol 2020 Apr 15;125(8):1249-1255. Epub 2020 Jan 28 doi: 10.1016/j.amjcard.2020.01.027. PMID: 32088002
Luni FK, Moza A, Sheikh M, Coker MF, Chaganti SK, Lewis TJ, Kanjwal Y
Tex Heart Inst J 2013;40(4):465-7. PMID: 24082381Free PMC Article
Meyer T, Pankuweit S, Richter A, Maisch B, Ruppert V
Gene 2013 Sep 15;527(1):416-20. Epub 2013 Jun 29 doi: 10.1016/j.gene.2013.06.025. PMID: 23816408
Jensen MK, Havndrup O, Christiansen M, Andersen PS, Diness B, Axelsson A, Skovby F, Køber L, Bundgaard H
Circulation 2013 Jan 1;127(1):48-54. Epub 2012 Nov 28 doi: 10.1161/CIRCULATIONAHA.111.090514. PMID: 23197161
Forissier JF, Charron P, Tezenas du Montcel S, Hagège A, Isnard R, Carrier L, Richard P, Desnos M, Bouhour JB, Schwartz K, Komajda M, Dubourg O
Eur Heart J 2005 Sep;26(18):1882-6. Epub 2005 Apr 28 doi: 10.1093/eurheartj/ehi276. PMID: 15860513

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