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Familial restrictive cardiomyopathy(RCM)

MedGen UID:
Concept ID:
Congenital Abnormality
Synonyms: Childhood Restrictive Cardiomyopathy; RCM
SNOMED CT: Familial restrictive cardiomyopathy (233878008)
Related genes: TNNT2, TNNI3
Monarch Initiative: MONDO:0016340
OMIM® Phenotypic series: PS115210
Orphanet: ORPHA217635


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).

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.

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. [from MedlinePlus Genetics]

Professional guidelines


Heymans S, Lakdawala NK, Tschöpe C, Klingel K
Lancet 2023 Sep 16;402(10406):998-1011. doi: 10.1016/S0140-6736(23)01241-2. PMID: 37716772
Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, Kaski JP; ESC Scientific Document Group
Eur Heart J 2023 Oct 1;44(37):3503-3626. doi: 10.1093/eurheartj/ehad194. PMID: 37622657
Kittleson MM, Maurer MS, Ambardekar AV, Bullock-Palmer RP, Chang PP, Eisen HJ, Nair AP, Nativi-Nicolau J, Ruberg FL; American Heart Association Heart Failure and Transplantation Committee of the Council on Clinical Cardiology
Circulation 2020 Jul 7;142(1):e7-e22. Epub 2020 Jun 1 doi: 10.1161/CIR.0000000000000792. PMID: 32476490

Recent clinical studies


Bansal S, Franz BJ, Land G, Mohanakumar T, Zangwill S
Pediatr Transplant 2022 Sep;26(6):e14302. Epub 2022 May 4 doi: 10.1111/petr.14302. PMID: 35509112


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
Daneshvar DA, Kedia G, Fishbein MC, Siegel RJ
Am J Cardiol 2012 Feb 1;109(3):445-7. Epub 2011 Nov 8 doi: 10.1016/j.amjcard.2011.09.031. PMID: 22071211
Schwartz ML, Colan SD
Am J Cardiol 2003 Sep 1;92(5):636-9. doi: 10.1016/s0002-9149(03)00744-6. PMID: 12943897


Esmailian G, Chen Q, Ramzy D, Kobashigawa JA, Chikwe J, Esmailian F
Tex Heart Inst J 2023 May 1;50(3) doi: 10.14503/THIJ-21-7726. PMID: 37155947Free PMC Article
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
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
Schwartz ML, Colan SD
Am J Cardiol 2003 Sep 1;92(5):636-9. doi: 10.1016/s0002-9149(03)00744-6. PMID: 12943897
Fitzpatrick AP, Shapiro LM, Rickards AF, Poole-Wilson PA
Br Heart J 1990 Feb;63(2):114-8. doi: 10.1136/hrt.63.2.114. PMID: 2317404Free PMC Article

Clinical prediction guides

Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium, Gerull B
Hum Mutat 2016 Mar;37(3):269-79. Epub 2016 Jan 8 doi: 10.1002/humu.22942. PMID: 26666891

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