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Cardiomyopathy, dilated, 2j

MedGen UID:
1050742
•Concept ID:
CN375833
•
Disease or Syndrome
Synonym: cardiomyopathy, dilated, 2j
 
Gene (location): FLII (17p11.2)
 
Monarch Initiative: MONDO:0957984
OMIM®: 620635

Definition

Dilated cardiomyopathy-2J (CMD2J) is characterized by onset of heart failure within the first year of life, with severely reduced left ventricular ejection fractions (Ruijmbeek et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200. [from OMIM]

Recent clinical studies

Etiology

Value of Cardiac Magnetic Resonance Fractal Analysis Combined With Myocardial Strain in Discriminating Isolated Left Ventricular Noncompaction and Dilated Cardiomyopathy.
Zheng T, Ma X, Li S, Ueda T, Wang Z, Lu A, Zhou W, Zou H, Zhao L, Gong L
J Magn Reson Imaging 2019 Jul;50(1):153-163. Epub 2018 Dec 19 doi: 10.1002/jmri.26616. PMID: 30565346
Feasibility and reproducibility of feature-tracking-based strain and strain rate measures of the left ventricle in different diseases and genders.
Maceira AM, Tuset-Sanchis L, López-Garrido M, San Andres M, López-Lereu MP, Monmeneu JV, García-González MP, Higueras L
J Magn Reson Imaging 2018 May;47(5):1415-1425. Epub 2017 Dec 4 doi: 10.1002/jmri.25894. PMID: 29205626
Increased myocardial native T(1) relaxation time in patients with nonischemic dilated cardiomyopathy with complex ventricular arrhythmia.
Nakamori S, Bui AH, Jang J, El-Rewaidy HA, Kato S, Ngo LH, Josephson ME, Manning WJ, Nezafat R
J Magn Reson Imaging 2018 Mar;47(3):779-786. Epub 2017 Jul 24 doi: 10.1002/jmri.25811. PMID: 28737018Free PMC Article
Prospective randomized comparison of two defibrillation safety margins in unipolar, active pectoral defibrillator therapy.
Carlsson J, Schulte B, Erdogan A, Sperzel J, Güttler N, Schwarz T, Pitschner HF, Neuzner J
Pacing Clin Electrophysiol 2003 Feb;26(2 Pt 1):613-8. doi: 10.1046/j.1460-9592.2003.00102.x. PMID: 12710322
Transvenous-subcutaneous defibrillation leads: effect of transvenous electrode polarity on defibrillation threshold.
Block M, Hammel D, Böcker D, Borggrefe M, Budde T, Isbruch F, Scheld HH, Breithardt G
J Cardiovasc Electrophysiol 1994 Nov;5(11):912-8. doi: 10.1111/j.1540-8167.1994.tb01131.x. PMID: 7889231

Diagnosis

Value of Cardiac Magnetic Resonance Fractal Analysis Combined With Myocardial Strain in Discriminating Isolated Left Ventricular Noncompaction and Dilated Cardiomyopathy.
Zheng T, Ma X, Li S, Ueda T, Wang Z, Lu A, Zhou W, Zou H, Zhao L, Gong L
J Magn Reson Imaging 2019 Jul;50(1):153-163. Epub 2018 Dec 19 doi: 10.1002/jmri.26616. PMID: 30565346
Endogenous assessment of diffuse myocardial fibrosis in patients with T(1ρ) -mapping.
van Oorschot JW, Güçlü F, de Jong S, Chamuleau SA, Luijten PR, Leiner T, Zwanenburg JJ
J Magn Reson Imaging 2017 Jan;45(1):132-138. Epub 2016 Jun 16 doi: 10.1002/jmri.25340. PMID: 27309545

Therapy

Prospective randomized comparison of two defibrillation safety margins in unipolar, active pectoral defibrillator therapy.
Carlsson J, Schulte B, Erdogan A, Sperzel J, Güttler N, Schwarz T, Pitschner HF, Neuzner J
Pacing Clin Electrophysiol 2003 Feb;26(2 Pt 1):613-8. doi: 10.1046/j.1460-9592.2003.00102.x. PMID: 12710322
Transvenous-subcutaneous defibrillation leads: effect of transvenous electrode polarity on defibrillation threshold.
Block M, Hammel D, Böcker D, Borggrefe M, Budde T, Isbruch F, Scheld HH, Breithardt G
J Cardiovasc Electrophysiol 1994 Nov;5(11):912-8. doi: 10.1111/j.1540-8167.1994.tb01131.x. PMID: 7889231

Prognosis

Increased myocardial native T(1) relaxation time in patients with nonischemic dilated cardiomyopathy with complex ventricular arrhythmia.
Nakamori S, Bui AH, Jang J, El-Rewaidy HA, Kato S, Ngo LH, Josephson ME, Manning WJ, Nezafat R
J Magn Reson Imaging 2018 Mar;47(3):779-786. Epub 2017 Jul 24 doi: 10.1002/jmri.25811. PMID: 28737018Free PMC Article

Clinical prediction guides

Feasibility and reproducibility of feature-tracking-based strain and strain rate measures of the left ventricle in different diseases and genders.
Maceira AM, Tuset-Sanchis L, López-Garrido M, San Andres M, López-Lereu MP, Monmeneu JV, García-González MP, Higueras L
J Magn Reson Imaging 2018 May;47(5):1415-1425. Epub 2017 Dec 4 doi: 10.1002/jmri.25894. PMID: 29205626
Increased myocardial native T(1) relaxation time in patients with nonischemic dilated cardiomyopathy with complex ventricular arrhythmia.
Nakamori S, Bui AH, Jang J, El-Rewaidy HA, Kato S, Ngo LH, Josephson ME, Manning WJ, Nezafat R
J Magn Reson Imaging 2018 Mar;47(3):779-786. Epub 2017 Jul 24 doi: 10.1002/jmri.25811. PMID: 28737018Free PMC Article
The use of transgenic and mutant mice to study oxygen free radical metabolism.
Huang TT, Carlson EJ, Raineri I, Gillespie AM, Kozy H, Epstein CJ
Ann N Y Acad Sci 1999;893:95-112. doi: 10.1111/j.1749-6632.1999.tb07820.x. PMID: 10672232

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    • ClinVar
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
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      Related literature resources in PubMed

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