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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

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
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
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
BIOCHEMICAL STUDIES IN FAMILIAL CARDIOMYOPATHY WITH SPECIAL REFERENCE TO THE DIFFERENTIAL DIAGNOSIS FROM KNOWN TYPES OF GLYCOGEN STORAGE DISEASE.
OCKERMAN PA, BERLIN SO
Acta Med Scand 1964 Sep;176:277-85. PMID: 14208920

Recent clinical studies

Etiology

Intersection of Heart Failure and Pregnancy: Beyond Peripartum Cardiomyopathy.
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
Genetic aetiologies should be considered in paediatric cases of acute heart failure presumed to be myocarditis.
Brown EE, McMilllan KN, Halushka MK, Ravekes WJ, Knight M, Crosson JE, Judge DP, Murphy AM
Cardiol Young 2019 Jul;29(7):917-921. Epub 2019 Jun 14 doi: 10.1017/S1047951119001124. PMID: 31198128
Genetic cardiomyopathies.
Wilcox JE, Hershberger RE
Curr Opin Cardiol 2018 May;33(3):354-362. doi: 10.1097/HCO.0000000000000512. PMID: 29561320
Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.
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
Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration.
Lobrinus JA, Janzer RC, Kuntzer T, Matthieu JM, Pfend G, Goy JJ, Bogousslavsky J
Neuromuscul Disord 1998 Apr;8(2):77-86. doi: 10.1016/s0960-8966(98)00005-4. PMID: 9608560

Diagnosis

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
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
Congestive Heart Failure in Children.
Price JF
Pediatr Rev 2019 Feb;40(2):60-70. doi: 10.1542/pir.2016-0168. PMID: 30709972
Genetic cardiomyopathies.
Wilcox JE, Hershberger RE
Curr Opin Cardiol 2018 May;33(3):354-362. doi: 10.1097/HCO.0000000000000512. PMID: 29561320
Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.
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
Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration.
Lobrinus JA, Janzer RC, Kuntzer T, Matthieu JM, Pfend G, Goy JJ, Bogousslavsky J
Neuromuscul Disord 1998 Apr;8(2):77-86. doi: 10.1016/s0960-8966(98)00005-4. PMID: 9608560

Therapy

Congestive Heart Failure in Children.
Price JF
Pediatr Rev 2019 Feb;40(2):60-70. doi: 10.1542/pir.2016-0168. PMID: 30709972
A New Life: Motherhood After Heart Transplantation. A Single-center Experience and Review of Literature.
Macera F, Occhi L, Masciocco G, Varrenti M, Frigerio M
Transplantation 2018 Sep;102(9):1538-1544. doi: 10.1097/TP.0000000000002281. PMID: 29762460
Sudden death risk stratification in non-ischemic dilated cardiomyopathy using old and new tools: a clinical challenge.
Manolis AS
Expert Rev Cardiovasc Ther 2017 Apr;15(4):315-325. Epub 2017 Mar 21 doi: 10.1080/14779072.2017.1307735. PMID: 28292197
Post-mortem genetic testing in a family with long-QT syndrome and hypertrophic cardiomyopathy.
Kane DA, Triedman J
Cardiovasc Pathol 2014 Mar-Apr;23(2):107-9. Epub 2013 Nov 15 doi: 10.1016/j.carpath.2013.11.003. PMID: 24322056
Case of epirubicin-induced cardiomyopathy in familial cardiomyopathy.
Shipman KE, Arnold I
J Clin Oncol 2011 Jun 20;29(18):e537-8. Epub 2011 Apr 11 doi: 10.1200/JCO.2011.34.8052. PMID: 21482996

Prognosis

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
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
Genetic aetiologies should be considered in paediatric cases of acute heart failure presumed to be myocarditis.
Brown EE, McMilllan KN, Halushka MK, Ravekes WJ, Knight M, Crosson JE, Judge DP, Murphy AM
Cardiol Young 2019 Jul;29(7):917-921. Epub 2019 Jun 14 doi: 10.1017/S1047951119001124. PMID: 31198128
Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.
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
Noninvasive Multimodality Imaging in ARVD/C.
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
Familial cardiomyopathy.
Csanády M, Szász K
Cardiology 1976;61(2):122-30. doi: 10.1159/000169753. PMID: 975127

Clinical prediction guides

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
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
Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.
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
A triple stranded G-quadruplex formation in the promoter region of human myosin β(Myh7) gene.
Singh A, Kukreti S
J Biomol Struct Dyn 2018 Aug;36(11):2773-2786. Epub 2017 Sep 19 doi: 10.1080/07391102.2017.1374211. PMID: 28927343
Noninvasive Multimodality Imaging in ARVD/C.
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
Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration.
Lobrinus JA, Janzer RC, Kuntzer T, Matthieu JM, Pfend G, Goy JJ, Bogousslavsky J
Neuromuscul Disord 1998 Apr;8(2):77-86. doi: 10.1016/s0960-8966(98)00005-4. PMID: 9608560

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