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Familial isolated dilated cardiomyopathy

MedGen UID:
1826005
•Concept ID:
C5679590
•
Disease or Syndrome
Synonyms: familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy; 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.
See: This record
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Mitochondrial inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0700335
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

Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.
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
Inherited cardiac arrhythmias: diagnosis, treatment, and prevention.
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
The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.
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

Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.
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
Left ventricular noncompaction - Risk stratification and genetic consideration.
Ichida F
J Cardiol 2020 Jan;75(1):1-9. Epub 2019 Oct 17 doi: 10.1016/j.jjcc.2019.09.011. PMID: 31629663
Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy.
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
Atrial fibrillation in patients with inherited cardiomyopathies.
Yeung C, Enriquez A, Suarez-Fuster L, Baranchuk A
Europace 2019 Jan 1;21(1):22-32. doi: 10.1093/europace/euy064. PMID: 29684120
Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement.
Carboni N, Porcu M, Mura M, Cocco E, Marrosu G, Maioli MA, Solla E, Tranquilli S, Orrù P, Marrosu MG
Muscle Nerve 2010 Jan;41(1):85-91. doi: 10.1002/mus.21443. PMID: 19768759

Diagnosis

Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study.
Meyer AP, Barnett CL, Myers K, Siskind CE, Moscarello T, Logan R, Roggenbuck J, Rich KA
J Med Genet 2024 Mar 21;61(4):356-362. doi: 10.1136/jmg-2023-109513. PMID: 38050027
The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy.
Kulikova O, Brodehl A, Kiseleva A, Myasnikov R, Meshkov A, Stanasiuk C, Gärtner A, Divashuk M, Sotnikova E, Koretskiy S, Kharlap M, Kozlova V, Mershina E, Pilus P, Sinitsyn V, Milting H, Boytsov S, Drapkina O
Genes (Basel) 2021 Jan 19;12(1) doi: 10.3390/genes12010121. PMID: 33478057Free PMC Article
Left ventricular noncompaction - Risk stratification and genetic consideration.
Ichida F
J Cardiol 2020 Jan;75(1):1-9. Epub 2019 Oct 17 doi: 10.1016/j.jjcc.2019.09.011. PMID: 31629663
Left ventricular noncompaction in a family with lamin A/C gene mutation.
Parent JJ, Towbin JA, Jefferies JL
Tex Heart Inst J 2015 Feb;42(1):73-6. Epub 2015 Feb 1 doi: 10.14503/THIJ-13-3843. PMID: 25873806Free PMC Article
Isolated noncompaction involving the left ventricular apex in adults.
Chung T, Yiannikas J, Lee LC, Lau GT, Kritharides L
Am J Cardiol 2004 Nov 1;94(9):1214-6. doi: 10.1016/j.amjcard.2004.07.102. PMID: 15518629

Therapy

Inhibition of the Hypoxia-Inducible Factor 1α-Induced Cardiospecific HERNA1 Enhance-Templated RNA Protects From Heart Disease.
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
Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.
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
A high frequency of viral agents yet absence of Borrelia burgdorferi is seen within the myocardium of subjects with normal left ventricular systolic function: an electron microscopy study.
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
Pregnancy and treatment outcome in a patient with left ventricular non-compaction.
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
Absence of viral nucleic acids in early and late dilated cardiomyopathy.
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

Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.
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
Left ventricular noncompaction - Risk stratification and genetic consideration.
Ichida F
J Cardiol 2020 Jan;75(1):1-9. Epub 2019 Oct 17 doi: 10.1016/j.jjcc.2019.09.011. PMID: 31629663
Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy.
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
Atrial fibrillation in patients with inherited cardiomyopathies.
Yeung C, Enriquez A, Suarez-Fuster L, Baranchuk A
Europace 2019 Jan 1;21(1):22-32. doi: 10.1093/europace/euy064. PMID: 29684120
Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement.
Carboni N, Porcu M, Mura M, Cocco E, Marrosu G, Maioli MA, Solla E, Tranquilli S, Orrù P, Marrosu MG
Muscle Nerve 2010 Jan;41(1):85-91. doi: 10.1002/mus.21443. PMID: 19768759

Clinical prediction guides

Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study.
Meyer AP, Barnett CL, Myers K, Siskind CE, Moscarello T, Logan R, Roggenbuck J, Rich KA
J Med Genet 2024 Mar 21;61(4):356-362. doi: 10.1136/jmg-2023-109513. PMID: 38050027
Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.
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
Left ventricular noncompaction - Risk stratification and genetic consideration.
Ichida F
J Cardiol 2020 Jan;75(1):1-9. Epub 2019 Oct 17 doi: 10.1016/j.jjcc.2019.09.011. PMID: 31629663
Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy.
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
Isolated noncompaction involving the left ventricular apex in adults.
Chung T, Yiannikas J, Lee LC, Lau GT, Kritharides L
Am J Cardiol 2004 Nov 1;94(9):1214-6. doi: 10.1016/j.amjcard.2004.07.102. PMID: 15518629

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