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Cardiomyopathy, familial restrictive, 5(RCM5)

MedGen UID:
934715
Concept ID:
C4310748
Disease or Syndrome
Synonym: RCM5
 
Monarch Initiative: MONDO:0800371
OMIM®: 102565; 617047

Definition

An autosomal dominant condition caused by mutation(s) in the FLNC gene, encoding filamin-C. It is characterized by restrictive cardiomyopathy in the context of normal contractility, left ventricular wall thickness and systolic function. [from NCI]

Professional guidelines

PubMed

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
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
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

Recent clinical studies

Etiology

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
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
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
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
Callis TE, Jensen BC, Weck KE, Willis MS
Expert Rev Mol Diagn 2010 Apr;10(3):329-51. doi: 10.1586/erm.10.13. PMID: 20370590Free PMC Article

Diagnosis

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
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
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
Rubin J, Maurer MS
Annu Rev Med 2020 Jan 27;71:203-219. doi: 10.1146/annurev-med-052918-020140. PMID: 31986086
Adams D, Lozeron P, Lacroix C
Curr Opin Neurol 2012 Oct;25(5):564-72. doi: 10.1097/WCO.0b013e328357bdf6. PMID: 22941262

Therapy

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
Rubin J, Maurer MS
Annu Rev Med 2020 Jan 27;71:203-219. doi: 10.1146/annurev-med-052918-020140. PMID: 31986086
Puggia I, Merlo M, Barbati G, Rowland TJ, Stolfo D, Gigli M, Ramani F, Di Lenarda A, Mestroni L, Sinagra G
J Am Heart Assoc 2016 Jun 30;5(7) doi: 10.1161/JAHA.116.003450. PMID: 27364989Free PMC Article
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
Wang P, Zou Y, Fu C, Zhou X, Hui R
Biochem Biophys Res Commun 2005 Apr 8;329(2):796-9. doi: 10.1016/j.bbrc.2005.02.004. PMID: 15737656

Prognosis

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
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
Rubin J, Maurer MS
Annu Rev Med 2020 Jan 27;71:203-219. doi: 10.1146/annurev-med-052918-020140. PMID: 31986086
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
Purcell JA
AACN Clin Issues Crit Care Nurs 1990 May;1(1):31-45. doi: 10.4037/15597768-1990-1004. PMID: 2192756

Clinical prediction guides

Bazoukis G, Letsas KP, Thomopoulos C, Tse G, Korantzopoulos P, Naka KK, Kalfakakou V, Vlachos K, Bazoukis X, Papadatos SS, Michelongona P, Saplaouras A, Georgopoulos S, Karamichalakis N, Asvestas D, Liu T, Efremidis M, Sideris A, Tsioufis C, Baranchuk A, Stavrakis S
Cardiol Rev 2019 Jul/Aug;27(4):189-197. doi: 10.1097/CRD.0000000000000220. PMID: 31180938
Lu C, Wu W, Liu F, Yang K, Li J, Liu Y, Wang R, Si N, Gao P, Liu Y, Zhang S, Zhang X
J Transl Med 2018 Aug 30;16(1):241. doi: 10.1186/s12967-018-1605-5. PMID: 30165862Free PMC Article
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
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
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

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