U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cardiomyopathy, familial restrictive, 1(RCM1)

MedGen UID:
396236
Concept ID:
C1861861
Disease or Syndrome
Synonym: TNNI3-Related Familial Restrictive Cardiomyopathy
 
Gene (location): TNNI3 (19q13.42)
 
Monarch Initiative: MONDO:0007270
OMIM®: 115210

Definition

Restrictive cardiomyopathy (RCM) is a myocardial disease characterized by impaired ventricular filling and reduced diastolic volume in the presence of normal systolic function and normal or near-normal myocardial thickness. The disease is characterized by symptoms of progressive left- and right-sided heart failure. The overall prognosis is poor, especially when onset is in childhood, and patients often require cardiac transplantation (Mogensen et al., 2003). Genetic Heterogeneity of Familial Restrictive Cardiomyopathy Other forms of familial restrictive cardiomyopathy include RCM2 (609578), mapped to chromosome 10q23; RCM3 (612422), caused by mutation in the TNNT2 gene (191045) on chromosome 1q32; RCM4 (see 615248), caused by mutation in the MYPN gene (608517) on chromosome 10q21; RCM5 (see 617047), caused by mutation in the FLNC gene (102565) on chromosome 7q32; and RCM6 (619433), caused by mutation in the KIF20A gene (605664) on chromosome 5q31. [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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.

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.

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).  https://medlineplus.gov/genetics/condition/familial-restrictive-cardiomyopathy

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
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.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM
JAMA Cardiol 2022 Sep 1;7(9):966-974. doi: 10.1001/jamacardio.2022.2455. PMID: 35947370Free PMC Article
Siddiqi OK, Ruberg FL
Trends Cardiovasc Med 2018 Jan;28(1):10-21. Epub 2017 Jul 13 doi: 10.1016/j.tcm.2017.07.004. PMID: 28739313Free PMC Article
Enriquez AD, Goldman ME
Ann Glob Health 2014 Jan-Feb;80(1):35-45. Epub 2013 Dec 25 doi: 10.1016/j.aogh.2013.12.004. PMID: 24751563

Recent clinical studies

Etiology

Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
Siddiqi OK, Ruberg FL
Trends Cardiovasc Med 2018 Jan;28(1):10-21. Epub 2017 Jul 13 doi: 10.1016/j.tcm.2017.07.004. PMID: 28739313Free PMC Article
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L
J Am Coll Cardiol 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. PMID: 27908349
Enriquez AD, Goldman ME
Ann Glob Health 2014 Jan-Feb;80(1):35-45. Epub 2013 Dec 25 doi: 10.1016/j.aogh.2013.12.004. PMID: 24751563
Taylor MR, Carniel E, Mestroni L
Orphanet J Rare Dis 2006 Jul 13;1:27. doi: 10.1186/1750-1172-1-27. PMID: 16839424Free PMC Article

Diagnosis

Starr N, Ioannou A, Martinez-Naharro A
Rev Esp Cardiol (Engl Ed) 2024 Jan;77(1):79-87. Epub 2023 Sep 9 doi: 10.1016/j.rec.2023.06.014. PMID: 37696332
Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
Siddiqi OK, Ruberg FL
Trends Cardiovasc Med 2018 Jan;28(1):10-21. Epub 2017 Jul 13 doi: 10.1016/j.tcm.2017.07.004. PMID: 28739313Free PMC Article
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L
J Am Coll Cardiol 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. PMID: 27908349
Adams D, Lozeron P, Lacroix C
Curr Opin Neurol 2012 Oct;25(5):564-72. doi: 10.1097/WCO.0b013e328357bdf6. PMID: 22941262

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
Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
Wang W, James CA, Calkins H
Europace 2019 Jan 1;21(1):9-21. doi: 10.1093/europace/euy063. PMID: 29688316Free 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
Enriquez AD, Goldman ME
Ann Glob Health 2014 Jan-Feb;80(1):35-45. Epub 2013 Dec 25 doi: 10.1016/j.aogh.2013.12.004. PMID: 24751563

Prognosis

Starr N, Ioannou A, Martinez-Naharro A
Rev Esp Cardiol (Engl Ed) 2024 Jan;77(1):79-87. Epub 2023 Sep 9 doi: 10.1016/j.rec.2023.06.014. PMID: 37696332
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
Siddiqi OK, Ruberg FL
Trends Cardiovasc Med 2018 Jan;28(1):10-21. Epub 2017 Jul 13 doi: 10.1016/j.tcm.2017.07.004. PMID: 28739313Free PMC Article
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L
J Am Coll Cardiol 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. PMID: 27908349
Taylor MR, Carniel E, Mestroni L
Orphanet J Rare Dis 2006 Jul 13;1:27. doi: 10.1186/1750-1172-1-27. PMID: 16839424Free PMC Article

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
Dedeoglu S, Dede E, Oztunc F, Gedikbasi A, Yesil G, Dedeoglu R
Orphanet J Rare Dis 2022 Sep 15;17(1):359. doi: 10.1186/s13023-022-02483-7. PMID: 36109815Free PMC Article
Siddiqi OK, Ruberg FL
Trends Cardiovasc Med 2018 Jan;28(1):10-21. Epub 2017 Jul 13 doi: 10.1016/j.tcm.2017.07.004. PMID: 28739313Free PMC Article
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L
J Am Coll Cardiol 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. PMID: 27908349
Judge DP, Johnson NM
J Cardiovasc Transl Res 2008 Jun;1(2):144-54. Epub 2008 Apr 22 doi: 10.1007/s12265-008-9025-1. PMID: 20559909

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
Mu J, Zhang G, Xue D, Xi M, Qi J, Dong H
Medicine (Baltimore) 2017 Nov;96(47):e8808. doi: 10.1097/MD.0000000000008808. PMID: 29381985Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...