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Cardiomyopathy, familial restrictive, 2(RCM2)

MedGen UID:
400673
•Concept ID:
C1865071
•
Disease or Syndrome
Synonym: Cardiomyopathy, Familial Restrictive, 2
 
Monarch Initiative: MONDO:0012306
OMIM®: 609578

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Cardiac Amyloidosis Treatment.
Stern LK, Patel J
Methodist Debakey Cardiovasc J 2022;18(2):59-72. Epub 2022 Mar 14 doi: 10.14797/mdcvj.1050. PMID: 35414852Free 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
Genetic evaluation of familial cardiomyopathy.
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 clinical studies

Etiology

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
Arrhythmogenic Right Ventricular Cardiomyopathy.
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
Amyloid cardiomyopathy.
Karafiatova L, Pika T
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2017 Jun;161(2):117-127. Epub 2017 Feb 1 doi: 10.5507/bp.2017.001. PMID: 28145535
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
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
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

Arrhythmogenic Right Ventricular Cardiomyopathy.
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
Cardiac Amyloidosis Treatment.
Stern LK, Patel J
Methodist Debakey Cardiovasc J 2022;18(2):59-72. Epub 2022 Mar 14 doi: 10.14797/mdcvj.1050. PMID: 35414852Free PMC Article
Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.
Chintanaphol M, Orgil BO, Alberson NR, Towbin JA, Purevjav E
Rev Cardiovasc Med 2022 Mar 17;23(3):108. doi: 10.31083/j.rcm2303108. PMID: 35345275
Amyloid cardiomyopathy.
Karafiatova L, Pika T
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2017 Jun;161(2):117-127. Epub 2017 Feb 1 doi: 10.5507/bp.2017.001. PMID: 28145535
Light-chain cardiac amyloidosis.
Mankad AK, Sesay I, Shah KB
Curr Probl Cancer 2017 Mar-Apr;41(2):144-156. Epub 2016 Nov 17 doi: 10.1016/j.currproblcancer.2016.11.004. PMID: 28117074

Therapy

Therapy of ATTR Cardiac Amyloidosis: Current Indications.
Di Lisi D, Di Stefano V, Brighina F, Galassi AR, Novo G
Curr Probl Cardiol 2023 Feb;48(2):101487. Epub 2022 Nov 4 doi: 10.1016/j.cpcardiol.2022.101487. PMID: 36336119
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
Arrhythmogenic Right Ventricular Cardiomyopathy.
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
Cardiac Amyloidosis Treatment.
Stern LK, Patel J
Methodist Debakey Cardiovasc J 2022;18(2):59-72. Epub 2022 Mar 14 doi: 10.14797/mdcvj.1050. PMID: 35414852Free PMC Article
Clinical diabetic cardiomyopathy: a two-faced disease with restrictive and dilated phenotypes.
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

Prognosis

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
Cardiac Amyloidosis Treatment.
Stern LK, Patel J
Methodist Debakey Cardiovasc J 2022;18(2):59-72. Epub 2022 Mar 14 doi: 10.14797/mdcvj.1050. PMID: 35414852Free PMC Article
Amyloid cardiomyopathy.
Karafiatova L, Pika T
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2017 Jun;161(2):117-127. Epub 2017 Feb 1 doi: 10.5507/bp.2017.001. PMID: 28145535
Light-chain cardiac amyloidosis.
Mankad AK, Sesay I, Shah KB
Curr Probl Cancer 2017 Mar-Apr;41(2):144-156. Epub 2016 Nov 17 doi: 10.1016/j.currproblcancer.2016.11.004. PMID: 28117074
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
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

Clinical prediction guides

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
Myocardial Amyloidosis: The Exemplar Interstitial Disease.
Fontana M, Ćorović A, Scully P, Moon JC
JACC Cardiovasc Imaging 2019 Nov;12(11 Pt 2):2345-2356. Epub 2019 Aug 14 doi: 10.1016/j.jcmg.2019.06.023. PMID: 31422120
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
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
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
Genetic evaluation of familial cardiomyopathy.
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

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
Sudden cardiac death owing to arrhythmogenic right ventricular cardiomyopathy: Two case reports and systematic literature review.
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

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    Clinical resources

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