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Cardiomyopathy, familial restrictive, 6(RCM6)

MedGen UID:
1780781
Concept ID:
C5543638
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
 
Gene (location): KIF20A (5q31.2)
 
Monarch Initiative: MONDO:0030330
OMIM®: 619433

Definition

Familial restrictive cardiomyopathy-6 (RCM6) is characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death (Louw et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of familial restrictive cardiomyopathy, see RCM1 (115210). [from OMIM]

Clinical features

From HPO
Restrictive cardiomyopathy
MedGen UID:
40111
Concept ID:
C0007196
Disease or Syndrome
Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.
Pulmonary valve insufficiency
MedGen UID:
11031
Concept ID:
C0034088
Pathologic Function
The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.
Tricuspid regurgitation
MedGen UID:
11911
Concept ID:
C0040961
Disease or Syndrome
Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Ascites
MedGen UID:
416
Concept ID:
C0003962
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Portal vein hypoplasia
MedGen UID:
721713
Concept ID:
C1299889
Congenital Abnormality
A developmental defect characterized by underdevelopment of hte portal vein.
Hydrops fetalis
MedGen UID:
6947
Concept ID:
C0020305
Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.

Professional guidelines

PubMed

Ellepola CD, Knight LM, Fischbach P, Deshpande SR
Pediatr Cardiol 2018 Mar;39(3):491-500. Epub 2017 Nov 29 doi: 10.1007/s00246-017-1779-2. PMID: 29188317
Caleshu C, Kasparian NA, Edwards KS, Yeates L, Semsarian C, Perez M, Ashley E, Turner CJ, Knowles JW, Ingles J
Trends Cardiovasc Med 2016 Oct;26(7):647-53. Epub 2016 Apr 28 doi: 10.1016/j.tcm.2016.04.010. PMID: 27256036
Teo LY, Moran RT, Tang WH
Curr Heart Fail Rep 2015 Dec;12(6):339-49. doi: 10.1007/s11897-015-0271-7. PMID: 26472190

Recent clinical studies

Etiology

Gaudreault N, Ruel LJ, Henry C, Schleit J, Lagüe P, Champagne J, Sénéchal M, Sarrazin JF, Philippon F, Bossé Y, Steinberg C
Am J Med Genet A 2023 Jun;191(6):1508-1517. Epub 2023 Mar 2 doi: 10.1002/ajmg.a.63169. PMID: 36864778
Ellepola CD, Knight LM, Fischbach P, Deshpande SR
Pediatr Cardiol 2018 Mar;39(3):491-500. Epub 2017 Nov 29 doi: 10.1007/s00246-017-1779-2. PMID: 29188317
Shah KB, Mankad AK, Castano A, Akinboboye OO, Duncan PB, Fergus IV, Maurer MS
Circ Heart Fail 2016 Jun;9(6):e002558. doi: 10.1161/CIRCHEARTFAILURE.115.002558. PMID: 27188913Free PMC Article
Sen-Chowdhry S, Syrris P, McKenna WJ
Heart Fail Clin 2010 Apr;6(2):179-86. doi: 10.1016/j.hfc.2009.11.005. PMID: 20347786
Maisch B, Richter A, Sandmöller A, Portig I, Pankuweit S; BMBF-Heart Failure Network
Herz 2005 Sep;30(6):535-44. doi: 10.1007/s00059-005-2730-5. PMID: 16170686

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
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
Shah KB, Mankad AK, Castano A, Akinboboye OO, Duncan PB, Fergus IV, Maurer MS
Circ Heart Fail 2016 Jun;9(6):e002558. doi: 10.1161/CIRCHEARTFAILURE.115.002558. PMID: 27188913Free PMC Article
Şahan E, Şahan S, Karamanlıoğlu M, Gul M, Tufekcioğlu O
Herz 2016 Sep;41(6):503-6. Epub 2016 Jan 25 doi: 10.1007/s00059-015-4394-0. PMID: 26809453
Peled Y, Gramlich M, Yoskovitz G, Feinberg MS, Afek A, Polak-Charcon S, Pras E, Sela BA, Konen E, Weissbrod O, Geiger D, Gordon PM, Thierfelder L, Freimark D, Gerull B, Arad M
Int J Cardiol 2014 Jan 15;171(1):24-30. Epub 2013 Nov 25 doi: 10.1016/j.ijcard.2013.11.037. PMID: 24315344

Therapy

Saturi G, De Frutos F, Sguazzotti M, Gonzalez-Lopez E, Nardi E, Domínguez F, Ponziani A, Cabrera E, Caponetti AG, Lozano S, Massa P, Cobo-Marcos M, Accietto A, Castro-Urda V, Giovannetti A, Toquero J, Gagliardi C, Gómez-Bueno M, Rios-Tamayo R, Biagini E, Segovia J, Galiè N, García-Pavía P, Longhi S
Heart 2023 Dec 15;110(1):40-48. doi: 10.1136/heartjnl-2022-322315. PMID: 37414523
Buchan SA, Seo CY, Johnson C, Alley S, Kwong JC, Nasreen S, Calzavara A, Lu D, Harris TM, Yu K, Wilson SE
JAMA Netw Open 2022 Jun 1;5(6):e2218505. doi: 10.1001/jamanetworkopen.2022.18505. PMID: 35749115Free PMC Article
Apostolopoulou SC, Vagenakis GA, Tsoutsinos A, Kakava F, Rammos S
Pediatr Cardiol 2018 Oct;39(7):1315-1322. Epub 2018 May 18 doi: 10.1007/s00246-018-1897-5. PMID: 29777282
Benson MD, Dasgupta NR, Rissing SM, Smith J, Feigenbaum H
Amyloid 2017 Dec;24(4):219-225. Epub 2017 Sep 14 doi: 10.1080/13506129.2017.1374946. PMID: 28906150
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

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
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
Tucker NR, McLellan MA, Hu D, Ye J, Parsons VA, Mills RW, Clauss S, Dolmatova E, Shea MA, Milan DJ, Scott NS, Lindsay M, Lubitz SA, Domian IJ, Stone JR, Lin H, Ellinor PT
Circ Cardiovasc Genet 2017 Dec;10(6) doi: 10.1161/CIRCGENETICS.117.001780. PMID: 29212899Free PMC Article
Shah KB, Mankad AK, Castano A, Akinboboye OO, Duncan PB, Fergus IV, Maurer MS
Circ Heart Fail 2016 Jun;9(6):e002558. doi: 10.1161/CIRCHEARTFAILURE.115.002558. PMID: 27188913Free PMC Article
Sharma N, Howlett J
Curr Opin Cardiol 2013 Mar;28(2):242-8. doi: 10.1097/HCO.0b013e32835dd165. PMID: 23324855

Clinical prediction guides

Saturi G, De Frutos F, Sguazzotti M, Gonzalez-Lopez E, Nardi E, Domínguez F, Ponziani A, Cabrera E, Caponetti AG, Lozano S, Massa P, Cobo-Marcos M, Accietto A, Castro-Urda V, Giovannetti A, Toquero J, Gagliardi C, Gómez-Bueno M, Rios-Tamayo R, Biagini E, Segovia J, Galiè N, García-Pavía P, Longhi S
Heart 2023 Dec 15;110(1):40-48. doi: 10.1136/heartjnl-2022-322315. PMID: 37414523
Ellepola CD, Knight LM, Fischbach P, Deshpande SR
Pediatr Cardiol 2018 Mar;39(3):491-500. Epub 2017 Nov 29 doi: 10.1007/s00246-017-1779-2. PMID: 29188317
Shah KB, Mankad AK, Castano A, Akinboboye OO, Duncan PB, Fergus IV, Maurer MS
Circ Heart Fail 2016 Jun;9(6):e002558. doi: 10.1161/CIRCHEARTFAILURE.115.002558. PMID: 27188913Free PMC Article
Sen-Chowdhry S, Syrris P, McKenna WJ
Heart Fail Clin 2010 Apr;6(2):179-86. doi: 10.1016/j.hfc.2009.11.005. PMID: 20347786
Maisch B, Richter A, Sandmöller A, Portig I, Pankuweit S; BMBF-Heart Failure Network
Herz 2005 Sep;30(6):535-44. doi: 10.1007/s00059-005-2730-5. PMID: 16170686

Recent systematic reviews

Xin Y, Hu W, Chen X, Hu J, Sun Y, Zhao Y
Hellenic J Cardiol 2019 Nov-Dec;60(6):375-383. Epub 2019 Feb 8 doi: 10.1016/j.hjc.2019.01.015. PMID: 30742933

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