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Familial isolated dilated cardiomyopathy

MedGen UID:
1826005
Concept ID:
C5679590
Disease or Syndrome
Synonym: Familial or idiopathic dilated cardiomyopathy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Mitochondrial inheritance
MedGen UID:
165802
Concept ID:
C0887941
Genetic Function
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Orphanet: ORPHA154

Definition

A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial isolated dilated cardiomyopathy

Professional guidelines

PubMed

Escobar-Lopez L, Ochoa JP, Royuela A, Verdonschot JAJ, Dal Ferro M, Espinosa MA, Sabater-Molina M, Gallego-Delgado M, Larrañaga-Moreira JM, Garcia-Pinilla JM, Basurte-Elorz MT, Rodríguez-Palomares JF, Climent V, Bermudez-Jimenez FJ, Mogollón-Jiménez MV, Lopez J, Peña-Peña ML, Garcia-Alvarez A, López-Abel B, Ripoll-Vera T, Palomino-Doza J, Bayes-Genis A, Brugada R, Idiazabal U, Mirelis JG, Dominguez F, Henkens MTHM, Krapels IPC, Brunner HG, Paldino A, Zaffalon D, Mestroni L, Sinagra G, Heymans SRB, Merlo M, Garcia-Pavia P
J Am Coll Cardiol 2022 Sep 20;80(12):1115-1126. doi: 10.1016/j.jacc.2022.06.040. PMID: 36109106Free PMC Article
Beckmann BM, Pfeufer A, Kääb S
Dtsch Arztebl Int 2011 Sep;108(37):623-33; quiz 634. Epub 2011 Sep 16 doi: 10.3238/arztebl.2011.0623. PMID: 21977220Free PMC Article
Hoedemaekers YM, Caliskan K, Michels M, Frohn-Mulder I, van der Smagt JJ, Phefferkorn JE, Wessels MW, ten Cate FJ, Sijbrands EJ, Dooijes D, Majoor-Krakauer DF
Circ Cardiovasc Genet 2010 Jun;3(3):232-9. Epub 2010 Jun 8 doi: 10.1161/CIRCGENETICS.109.903898. PMID: 20530761

Recent clinical studies

Etiology

Escobar-Lopez L, Ochoa JP, Royuela A, Verdonschot JAJ, Dal Ferro M, Espinosa MA, Sabater-Molina M, Gallego-Delgado M, Larrañaga-Moreira JM, Garcia-Pinilla JM, Basurte-Elorz MT, Rodríguez-Palomares JF, Climent V, Bermudez-Jimenez FJ, Mogollón-Jiménez MV, Lopez J, Peña-Peña ML, Garcia-Alvarez A, López-Abel B, Ripoll-Vera T, Palomino-Doza J, Bayes-Genis A, Brugada R, Idiazabal U, Mirelis JG, Dominguez F, Henkens MTHM, Krapels IPC, Brunner HG, Paldino A, Zaffalon D, Mestroni L, Sinagra G, Heymans SRB, Merlo M, Garcia-Pavia P
J Am Coll Cardiol 2022 Sep 20;80(12):1115-1126. doi: 10.1016/j.jacc.2022.06.040. PMID: 36109106Free PMC Article
Cowan JR, Salyer L, Wright NT, Kinnamon DD, Amaya P, Jordan E, Bamshad MJ, Nickerson DA, Hershberger RE
Circ Genom Precis Med 2020 Aug;13(4):e002892. Epub 2020 Jun 30 doi: 10.1161/CIRCGEN.119.002892. PMID: 32603605Free PMC Article
Ichida F
J Cardiol 2020 Jan;75(1):1-9. Epub 2019 Oct 17 doi: 10.1016/j.jjcc.2019.09.011. PMID: 31629663
van Waning JI, Caliskan K, Michels M, Schinkel AFL, Hirsch A, Dalinghaus M, Hoedemaekers YM, Wessels MW, IJpma AS, Hofstra RMW, van Slegtenhorst MA, Majoor-Krakauer D
J Am Coll Cardiol 2019 Apr 9;73(13):1601-1611. doi: 10.1016/j.jacc.2018.12.085. PMID: 30947911
Yeung C, Enriquez A, Suarez-Fuster L, Baranchuk A
Europace 2019 Jan 1;21(1):22-32. doi: 10.1093/europace/euy064. PMID: 29684120

Diagnosis

Escobar-Lopez L, Ochoa JP, Royuela A, Verdonschot JAJ, Dal Ferro M, Espinosa MA, Sabater-Molina M, Gallego-Delgado M, Larrañaga-Moreira JM, Garcia-Pinilla JM, Basurte-Elorz MT, Rodríguez-Palomares JF, Climent V, Bermudez-Jimenez FJ, Mogollón-Jiménez MV, Lopez J, Peña-Peña ML, Garcia-Alvarez A, López-Abel B, Ripoll-Vera T, Palomino-Doza J, Bayes-Genis A, Brugada R, Idiazabal U, Mirelis JG, Dominguez F, Henkens MTHM, Krapels IPC, Brunner HG, Paldino A, Zaffalon D, Mestroni L, Sinagra G, Heymans SRB, Merlo M, Garcia-Pavia P
J Am Coll Cardiol 2022 Sep 20;80(12):1115-1126. doi: 10.1016/j.jacc.2022.06.040. PMID: 36109106Free PMC Article
Nerakh G, Ranganath P
Indian J Pediatr 2019 Mar;86(3):296-298. Epub 2018 Nov 28 doi: 10.1007/s12098-018-2807-9. PMID: 30484169
Paterick TE, Gerber TC, Pradhan SR, Lindor NM, Tajik AJ
Rev Cardiovasc Med 2010 Spring;11(2):92-9. doi: 10.3909/ricm0531. PMID: 20700091
Sen-Chowdhry S, McKenna WJ
Curr Opin Cardiol 2008 May;23(3):171-5. doi: 10.1097/HCO.0b013e3282fdc939. PMID: 18382203
Arbustini E, Morbini P, Pilotto A, Gavazzi A, Tavazzi L
Herz 2000 May;25(3):156-60. doi: 10.1007/s000590050001. PMID: 10904833

Therapy

Mirtschink P, Bischof C, Pham MD, Sharma R, Khadayate S, Rossi G, Fankhauser N, Traub S, Sossalla S, Hagag E, Berthonneche C, Sarre A, Stehr SN, Grote P, Pedrazzini T, Dimmeler S, Krek W, Krishnan J
Circulation 2019 Jun 11;139(24):2778-2792. Epub 2019 Mar 29 doi: 10.1161/CIRCULATIONAHA.118.036769. PMID: 30922078Free PMC Article
Dewulf JP, Barrea C, Vincent MF, De Laet C, Van Coster R, Seneca S, Marie S, Nassogne MC
Mol Genet Metab 2016 Jul;118(3):185-189. Epub 2016 May 13 doi: 10.1016/j.ymgme.2016.05.005. PMID: 27233227
Kuchynka P, Palecek T, Grus T, Schramlova J, Krsek D, Vitkova I, Rohn V, Lindner J, Wicks E, Nemecek E, Dostalova G, Podzimkova J, Linhart A
Folia Microbiol (Praha) 2016 Mar;61(2):129-35. Epub 2015 Jul 24 doi: 10.1007/s12223-015-0417-8. PMID: 26205424
Sawant RD, Freeman LJ, Stanley KP, McKelvey A
Eur J Heart Fail 2013 May;15(5):592-5. Epub 2013 Jan 11 doi: 10.1093/eurjhf/hft002. PMID: 23315044
Mahon NG, Zal B, Arno G, Risley P, Pinto-Basto J, McKenna WJ, Davies MJ, Baboonian C
Heart 2001 Dec;86(6):687-92. doi: 10.1136/heart.86.6.687. PMID: 11711469Free PMC Article

Prognosis

Escobar-Lopez L, Ochoa JP, Royuela A, Verdonschot JAJ, Dal Ferro M, Espinosa MA, Sabater-Molina M, Gallego-Delgado M, Larrañaga-Moreira JM, Garcia-Pinilla JM, Basurte-Elorz MT, Rodríguez-Palomares JF, Climent V, Bermudez-Jimenez FJ, Mogollón-Jiménez MV, Lopez J, Peña-Peña ML, Garcia-Alvarez A, López-Abel B, Ripoll-Vera T, Palomino-Doza J, Bayes-Genis A, Brugada R, Idiazabal U, Mirelis JG, Dominguez F, Henkens MTHM, Krapels IPC, Brunner HG, Paldino A, Zaffalon D, Mestroni L, Sinagra G, Heymans SRB, Merlo M, Garcia-Pavia P
J Am Coll Cardiol 2022 Sep 20;80(12):1115-1126. doi: 10.1016/j.jacc.2022.06.040. PMID: 36109106Free PMC Article
van Waning JI, Caliskan K, Michels M, Schinkel AFL, Hirsch A, Dalinghaus M, Hoedemaekers YM, Wessels MW, IJpma AS, Hofstra RMW, van Slegtenhorst MA, Majoor-Krakauer D
J Am Coll Cardiol 2019 Apr 9;73(13):1601-1611. doi: 10.1016/j.jacc.2018.12.085. PMID: 30947911
Yeung C, Enriquez A, Suarez-Fuster L, Baranchuk A
Europace 2019 Jan 1;21(1):22-32. doi: 10.1093/europace/euy064. PMID: 29684120
Paterick TE, Gerber TC, Pradhan SR, Lindor NM, Tajik AJ
Rev Cardiovasc Med 2010 Spring;11(2):92-9. doi: 10.3909/ricm0531. PMID: 20700091
Sen-Chowdhry S, McKenna WJ
Curr Opin Cardiol 2008 May;23(3):171-5. doi: 10.1097/HCO.0b013e3282fdc939. PMID: 18382203

Clinical prediction guides

Escobar-Lopez L, Ochoa JP, Royuela A, Verdonschot JAJ, Dal Ferro M, Espinosa MA, Sabater-Molina M, Gallego-Delgado M, Larrañaga-Moreira JM, Garcia-Pinilla JM, Basurte-Elorz MT, Rodríguez-Palomares JF, Climent V, Bermudez-Jimenez FJ, Mogollón-Jiménez MV, Lopez J, Peña-Peña ML, Garcia-Alvarez A, López-Abel B, Ripoll-Vera T, Palomino-Doza J, Bayes-Genis A, Brugada R, Idiazabal U, Mirelis JG, Dominguez F, Henkens MTHM, Krapels IPC, Brunner HG, Paldino A, Zaffalon D, Mestroni L, Sinagra G, Heymans SRB, Merlo M, Garcia-Pavia P
J Am Coll Cardiol 2022 Sep 20;80(12):1115-1126. doi: 10.1016/j.jacc.2022.06.040. PMID: 36109106Free PMC Article
Ichida F
J Cardiol 2020 Jan;75(1):1-9. Epub 2019 Oct 17 doi: 10.1016/j.jjcc.2019.09.011. PMID: 31629663
van Waning JI, Caliskan K, Michels M, Schinkel AFL, Hirsch A, Dalinghaus M, Hoedemaekers YM, Wessels MW, IJpma AS, Hofstra RMW, van Slegtenhorst MA, Majoor-Krakauer D
J Am Coll Cardiol 2019 Apr 9;73(13):1601-1611. doi: 10.1016/j.jacc.2018.12.085. PMID: 30947911
Paterick TE, Gerber TC, Pradhan SR, Lindor NM, Tajik AJ
Rev Cardiovasc Med 2010 Spring;11(2):92-9. doi: 10.3909/ricm0531. PMID: 20700091
Arbustini E, Morbini P, Pilotto A, Gavazzi A, Tavazzi L
Herz 2000 May;25(3):156-60. doi: 10.1007/s000590050001. PMID: 10904833

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