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Familial restrictive cardiomyopathy 1(RCM1)

MedGen UID:
396236
Concept ID:
C1861861
Disease or Syndrome
Synonyms: RCM1; TNNI3-Related Familial Restrictive Cardiomyopathy
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): TNNI3 (19q13.42)
OMIM®: 115210

Definition

Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).In people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.Familial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed.Adults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.
[from GHR]

Clinical features

Cardiomyopathy, restrictive
MedGen UID:
40111
Concept ID:
C0007196
Disease or Syndrome
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Hong JA, Kim MS, Cho MS, Choi HI, Kang DH, Lee SE, Lee GY, Jeon ES, Cho JY, Kim KH, Yoo BS, Lee JY, Kim WJ, Kim KH, Chung WJ, Lee JH, Cho MC, Kim JJ
Medicine (Baltimore) 2017 Sep;96(36):e7886. doi: 10.1097/MD.0000000000007886. PMID: 28885342
Al-Kindi SG, Oliveira GH
J Card Fail 2016 Jun;22(6):475-8. Epub 2016 Apr 12 doi: 10.1016/j.cardfail.2016.03.014. PMID: 27084524
Liu S, Ma C, Ren W, Zhang J, Li N, Yang J, Zhang Y, Qiao W
Int J Cardiovasc Imaging 2015 Dec;31(8):1529-36. Epub 2015 Aug 6 doi: 10.1007/s10554-015-0726-7. PMID: 26245471
Walsh MA, Grenier MA, Jefferies JL, Towbin JA, Lorts A, Czosek RJ
Circ Heart Fail 2012 Mar 1;5(2):267-73. Epub 2012 Jan 19 doi: 10.1161/CIRCHEARTFAILURE.111.964395. PMID: 22260945
Menon SC, Michels VV, Pellikka PA, Ballew JD, Karst ML, Herron KJ, Nelson SM, Rodeheffer RJ, Olson TM
Clin Genet 2008 Nov;74(5):445-54. Epub 2008 Jul 21 doi: 10.1111/j.1399-0004.2008.01062.x. PMID: 18651846Free PMC Article

Diagnosis

Sengupta PP, Huang YM, Bansal M, Ashrafi A, Fisher M, Shameer K, Gall W, Dudley JT
Circ Cardiovasc Imaging 2016 Jun;9(6) doi: 10.1161/CIRCIMAGING.115.004330. PMID: 27266599Free PMC Article
Wu W, Lu CX, Wang YN, Liu F, Chen W, Liu YT, Han YC, Cao J, Zhang SY, Zhang X
J Am Heart Assoc 2015 Jul 10;4(7) doi: 10.1161/JAHA.115.001879. PMID: 26163040Free PMC Article
Seferović PM, Paulus WJ
Eur Heart J 2015 Jul 14;36(27):1718-27, 1727a-1727c. Epub 2015 Apr 17 doi: 10.1093/eurheartj/ehv134. PMID: 25888006
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
Menon SC, Michels VV, Pellikka PA, Ballew JD, Karst ML, Herron KJ, Nelson SM, Rodeheffer RJ, Olson TM
Clin Genet 2008 Nov;74(5):445-54. Epub 2008 Jul 21 doi: 10.1111/j.1399-0004.2008.01062.x. PMID: 18651846Free PMC Article

Therapy

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
Seferović PM, Paulus WJ
Eur Heart J 2015 Jul 14;36(27):1718-27, 1727a-1727c. Epub 2015 Apr 17 doi: 10.1093/eurheartj/ehv134. PMID: 25888006
Gursu HA, Varan B, Erdogan I
Cardiol Young 2014 Aug;24(4):764-6. Epub 2013 Sep 13 doi: 10.1017/S104795111300125X. PMID: 24029379
DePasquale EC, Nasir K, Jacoby DL
J Heart Lung Transplant 2012 Dec;31(12):1269-75. Epub 2012 Oct 15 doi: 10.1016/j.healun.2012.09.018. PMID: 23079066
Webber SA, Lipshultz SE, Sleeper LA, Lu M, Wilkinson JD, Addonizio LJ, Canter CE, Colan SD, Everitt MD, Jefferies JL, Kantor PF, Lamour JM, Margossian R, Pahl E, Rusconi PG, Towbin JA; Pediatric Cardiomyopathy Registry Investigators.
Circulation 2012 Sep 4;126(10):1237-44. Epub 2012 Jul 27 doi: 10.1161/CIRCULATIONAHA.112.104638. PMID: 22843787

Prognosis

Al-Kindi SG, Oliveira GH
J Card Fail 2016 Jun;22(6):475-8. Epub 2016 Apr 12 doi: 10.1016/j.cardfail.2016.03.014. PMID: 27084524
Wu W, Lu CX, Wang YN, Liu F, Chen W, Liu YT, Han YC, Cao J, Zhang SY, Zhang X
J Am Heart Assoc 2015 Jul 10;4(7) doi: 10.1161/JAHA.115.001879. PMID: 26163040Free PMC Article
Huby AC, Mendsaikhan U, Takagi K, Martherus R, Wansapura J, Gong N, Osinska H, James JF, Kramer K, Saito K, Robbins J, Khuchua Z, Towbin JA, Purevjav E
J Am Coll Cardiol 2014 Dec 30;64(25):2765-76. doi: 10.1016/j.jacc.2014.09.071. PMID: 25541130Free PMC Article
Menon SC, Michels VV, Pellikka PA, Ballew JD, Karst ML, Herron KJ, Nelson SM, Rodeheffer RJ, Olson TM
Clin Genet 2008 Nov;74(5):445-54. Epub 2008 Jul 21 doi: 10.1111/j.1399-0004.2008.01062.x. PMID: 18651846Free PMC Article
Kaski JP, Syrris P, Burch M, Tomé-Esteban MT, Fenton M, Christiansen M, Andersen PS, Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM
Heart 2008 Nov;94(11):1478-84. Epub 2008 May 8 doi: 10.1136/hrt.2007.134684. PMID: 18467357

Clinical prediction guides

Hong JA, Kim MS, Cho MS, Choi HI, Kang DH, Lee SE, Lee GY, Jeon ES, Cho JY, Kim KH, Yoo BS, Lee JY, Kim WJ, Kim KH, Chung WJ, Lee JH, Cho MC, Kim JJ
Medicine (Baltimore) 2017 Sep;96(36):e7886. doi: 10.1097/MD.0000000000007886. PMID: 28885342
Sengupta PP, Huang YM, Bansal M, Ashrafi A, Fisher M, Shameer K, Gall W, Dudley JT
Circ Cardiovasc Imaging 2016 Jun;9(6) doi: 10.1161/CIRCIMAGING.115.004330. PMID: 27266599Free PMC Article
Liu S, Ma C, Ren W, Zhang J, Li N, Yang J, Zhang Y, Qiao W
Int J Cardiovasc Imaging 2015 Dec;31(8):1529-36. Epub 2015 Aug 6 doi: 10.1007/s10554-015-0726-7. PMID: 26245471
Wu W, Lu CX, Wang YN, Liu F, Chen W, Liu YT, Han YC, Cao J, Zhang SY, Zhang X
J Am Heart Assoc 2015 Jul 10;4(7) doi: 10.1161/JAHA.115.001879. PMID: 26163040Free PMC Article
Menon SC, Michels VV, Pellikka PA, Ballew JD, Karst ML, Herron KJ, Nelson SM, Rodeheffer RJ, Olson TM
Clin Genet 2008 Nov;74(5):445-54. Epub 2008 Jul 21 doi: 10.1111/j.1399-0004.2008.01062.x. PMID: 18651846Free PMC Article

Recent systematic reviews

Niss O, Quinn CT, Lane A, Daily J, Khoury PR, Bakeer N, Kimball TR, Towbin JA, Malik P, Taylor MD
JACC Cardiovasc Imaging 2016 Mar;9(3):243-52. Epub 2016 Feb 17 doi: 10.1016/j.jcmg.2015.05.013. PMID: 26897687Free PMC Article
Phillips AA, Cote AT, Bredin SS, Warburton DE
BMC Cardiovasc Disord 2012 Jun 24;12:46. doi: 10.1186/1471-2261-12-46. PMID: 22726250Free PMC Article
Desai HV, Aronow WS, Peterson SJ, Frishman WH
Cardiol Rev 2010 Jan-Feb;18(1):1-11. doi: 10.1097/CRD.0b013e3181bdba8f. PMID: 20010333
Burke MA, Cotts WG
Heart Fail Rev 2007 Mar;12(1):23-36. Epub 2007 Mar 8 doi: 10.1007/s10741-007-9002-9. PMID: 17345160
Whalley GA, Gamble GD, Doughty RN
Int J Cardiol 2007 Mar 2;116(1):70-7. Epub 2006 Aug 8 doi: 10.1016/j.ijcard.2006.03.032. PMID: 16901562

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