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Familial cardiomyopathy

MedGen UID:
538845
Concept ID:
C0264789
Disease or Syndrome
Synonyms: familial cardiomyopathy; hereditary cardiomyopathy; Primary familial cardiomyopathy
SNOMED CT: Familial cardiomyopathy (35728003); Primary familial cardiomyopathy (35728003)
 
Monarch Initiative: MONDO:0005217

Definition

An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome. [from MONDO]

Professional guidelines

PubMed

Khan RS, Pahl E, Dellefave-Castillo L, Rychlik K, Ing A, Yap KL, Brew C, Johnston JR, McNally EM, Webster G
J Am Heart Assoc 2022 Jan 4;11(1):e022854. Epub 2021 Dec 22 doi: 10.1161/JAHA.121.022854. PMID: 34935411Free PMC Article
van Waning JI, Caliskan K, Chelu RG, van der Velde N, Pezzato A, Michels M, van Slegtenhorst MA, Boersma E, Nieman K, Majoor-Krakauer D, Hirsch A
Can J Cardiol 2021 Mar;37(3):433-442. Epub 2020 May 21 doi: 10.1016/j.cjca.2020.05.021. PMID: 32445794Free PMC Article
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

Spracklen TF, Keavney B, Laing N, Ntusi N, Shaboodien G
Heart 2022 Nov 10;108(23):1843-1850. doi: 10.1136/heartjnl-2021-320424. PMID: 35140110
Robles-Mezcua A, Rodríguez-Miranda L, Morcillo-Hidalgo L, Jiménez-Navarro M, García-Pinilla JM
Eur J Med Genet 2021 Sep;64(9):104278. Epub 2021 Jun 24 doi: 10.1016/j.ejmg.2021.104278. PMID: 34174465
DeFilippis EM, Haythe JH, Walsh MN, Kittleson MM
Circ Heart Fail 2021 May;14(5):e008223. Epub 2021 May 13 doi: 10.1161/CIRCHEARTFAILURE.120.008223. PMID: 33980039
Wilcox JE, Hershberger RE
Curr Opin Cardiol 2018 May;33(3):354-362. doi: 10.1097/HCO.0000000000000512. PMID: 29561320
van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D
J Am Coll Cardiol 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019. PMID: 29447731

Diagnosis

Robles-Mezcua A, Rodríguez-Miranda L, Morcillo-Hidalgo L, Jiménez-Navarro M, García-Pinilla JM
Eur J Med Genet 2021 Sep;64(9):104278. Epub 2021 Jun 24 doi: 10.1016/j.ejmg.2021.104278. PMID: 34174465
DeFilippis EM, Haythe JH, Walsh MN, Kittleson MM
Circ Heart Fail 2021 May;14(5):e008223. Epub 2021 May 13 doi: 10.1161/CIRCHEARTFAILURE.120.008223. PMID: 33980039
Price JF
Pediatr Rev 2019 Feb;40(2):60-70. doi: 10.1542/pir.2016-0168. PMID: 30709972
Wilcox JE, Hershberger RE
Curr Opin Cardiol 2018 May;33(3):354-362. doi: 10.1097/HCO.0000000000000512. PMID: 29561320
van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D
J Am Coll Cardiol 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019. PMID: 29447731

Therapy

Price JF
Pediatr Rev 2019 Feb;40(2):60-70. doi: 10.1542/pir.2016-0168. PMID: 30709972
Macera F, Occhi L, Masciocco G, Varrenti M, Frigerio M
Transplantation 2018 Sep;102(9):1538-1544. doi: 10.1097/TP.0000000000002281. PMID: 29762460
Manolis AS
Expert Rev Cardiovasc Ther 2017 Apr;15(4):315-325. Epub 2017 Mar 21 doi: 10.1080/14779072.2017.1307735. PMID: 28292197
Feldman AM, Gordon J, Wang J, Song J, Zhang XQ, Myers VD, Tilley DG, Gao E, Hoffman NE, Tomar D, Madesh M, Rabinowitz J, Koch WJ, Su F, Khalili K, Cheung JY
J Mol Cell Cardiol 2016 Mar;92:10-20. Epub 2016 Jan 19 doi: 10.1016/j.yjmcc.2016.01.015. PMID: 26796036Free PMC Article
Frost DA, Dolak JA
Can J Anaesth 2006 May;53(5):478-81. doi: 10.1007/BF03022620. PMID: 16636032

Prognosis

Robles-Mezcua A, Rodríguez-Miranda L, Morcillo-Hidalgo L, Jiménez-Navarro M, García-Pinilla JM
Eur J Med Genet 2021 Sep;64(9):104278. Epub 2021 Jun 24 doi: 10.1016/j.ejmg.2021.104278. PMID: 34174465
Al Senaidi K, Joshi N, Al-Nabhani M, Al-Kasbi G, Al Farqani A, Al-Thihli K, Al-Maawali A
Am J Med Genet A 2019 Jul;179(7):1235-1240. Epub 2019 May 10 doi: 10.1002/ajmg.a.61176. PMID: 31074094
van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D
J Am Coll Cardiol 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019. PMID: 29447731
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
Csanády M, Szász K
Cardiology 1976;61(2):122-30. doi: 10.1159/000169753. PMID: 975127

Clinical prediction guides

Khan RS, Pahl E, Dellefave-Castillo L, Rychlik K, Ing A, Yap KL, Brew C, Johnston JR, McNally EM, Webster G
J Am Heart Assoc 2022 Jan 4;11(1):e022854. Epub 2021 Dec 22 doi: 10.1161/JAHA.121.022854. PMID: 34935411Free PMC Article
van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D
J Am Coll Cardiol 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019. PMID: 29447731
Te Riele ASJM, Tandri H, Sanborn DM, Bluemke DA
JACC Cardiovasc Imaging 2015 May;8(5):597-611. doi: 10.1016/j.jcmg.2015.02.007. PMID: 25937197Free PMC Article
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
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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