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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
Ascites
MedGen UID:
416
•Concept ID:
C0003962
•
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
See: Feature record | Search on this feature
Hepatomegaly
MedGen UID:
42428
•Concept ID:
C0019209
•
Finding
Abnormally increased size of the liver.
See: Feature record | Search on this feature
Portal vein hypoplasia
MedGen UID:
721713
•Concept ID:
C1299889
•
Congenital Abnormality
A developmental defect characterized by underdevelopment of the portal vein.
See: Feature record | Search on this feature
Hepatic artery hyperplasia
MedGen UID:
1845313
•Concept ID:
C5872936
•
Anatomical Abnormality
Abnormal increase in size of the hepatic arteries.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.
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
Genetic Testing in Pediatric Cardiomyopathy.
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
Interdisciplinary psychosocial care for families with inherited cardiovascular diseases.
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

Recent clinical studies

Etiology

Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.
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
Predictors and outcomes of pacemaker implantation in patients with cardiac amyloidosis.
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
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J, Lorca R, Reguero JR, Morís C, Martín M, Tranche S, Alonso B, Iglesias S, Alvarez V, Díaz-Molina B, Avanzas P, Coto E
Circ Cardiovasc Genet 2017 Apr;10(2) doi: 10.1161/CIRCGENETICS.116.001584. PMID: 28356264
Transthyretin Cardiac Amyloidosis in Black Americans.
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
Genetics of restrictive cardiomyopathy.
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

Diagnosis

Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.
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
Genetic heterogeneity of cardiomyopathy and its correlation with patient care.
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
Predictors and outcomes of pacemaker implantation in patients with cardiac amyloidosis.
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
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
Transthyretin Cardiac Amyloidosis in Black Americans.
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

Therapy

Predictors and outcomes of pacemaker implantation in patients with cardiac amyloidosis.
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
Epidemiology of Myocarditis and Pericarditis Following mRNA Vaccination by Vaccine Product, Schedule, and Interdose Interval Among Adolescents and Adults in Ontario, Canada.
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
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J, Lorca R, Reguero JR, Morís C, Martín M, Tranche S, Alonso B, Iglesias S, Alvarez V, Díaz-Molina B, Avanzas P, Coto E
Circ Cardiovasc Genet 2017 Apr;10(2) doi: 10.1161/CIRCGENETICS.116.001584. PMID: 28356264
European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology.
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
Pathologic anatomy of the dilated cardiomyopathies.
Ferrans VJ
Am J Cardiol 1989 Aug 2;64(6):9C-11C. doi: 10.1016/0002-9149(89)90677-2. PMID: 2756900

Prognosis

Genetic heterogeneity of cardiomyopathy and its correlation with patient care.
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
Predictors and outcomes of pacemaker implantation in patients with cardiac amyloidosis.
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
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
Transthyretin Cardiac Amyloidosis in Black Americans.
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
Current state of cardiac amyloidosis.
Sharma N, Howlett J
Curr Opin Cardiol 2013 Mar;28(2):242-8. doi: 10.1097/HCO.0b013e32835dd165. PMID: 23324855

Clinical prediction guides

Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study.
Meyer AP, Barnett CL, Myers K, Siskind CE, Moscarello T, Logan R, Roggenbuck J, Rich KA
J Med Genet 2024 Mar 21;61(4):356-362. doi: 10.1136/jmg-2023-109513. PMID: 38050027
Predictors and outcomes of pacemaker implantation in patients with cardiac amyloidosis.
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
Genetic Testing in Pediatric Cardiomyopathy.
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
Transthyretin Cardiac Amyloidosis in Black Americans.
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
Genetics of restrictive cardiomyopathy.
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

Recent systematic reviews

Prognostic impact of light-chain and transthyretin-related categories in cardiac amyloidosis: A systematic review and meta-analysis.
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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