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Cardiomyopathy, dilated, 2j(CMD2J)

MedGen UID:
1846005
Concept ID:
C5882725
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, DILATED, 2J; CMD2J
 
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]

Clinical features

From HPO
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Atrial septal defect, ostium secundum type
MedGen UID:
91034
Concept ID:
C0344724
Congenital Abnormality
A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.
Severely reduced left ventricular ejection fraction
MedGen UID:
868396
Concept ID:
C4022790
Finding
A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.

Recent clinical studies

Etiology

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
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
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
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
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

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
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

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
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

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

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
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
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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