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Dilated cardiomyopathy 1G(CMD1G)

MedGen UID:
347714
Concept ID:
C1858763
Disease or Syndrome
Synonyms: CMD1G; TTN-Related Dilated Cardiomyopathy
 
Gene (location): TTN (2q31.2)
 
Monarch Initiative: MONDO:0011400
OMIM®: 604145

Definition

Dilated cardiomyopathy-1G (CMD1G) is an autosomal dominant disorder characterized by ventricular dilatation and systolic contractile dysfunction (Siu et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see CMD1A (115200). [from OMIM]

Clinical features

From HPO
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
Atrioventricular block
MedGen UID:
13956
Concept ID:
C0004245
Disease or Syndrome
Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
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.
Premature atrial contractions
MedGen UID:
19455
Concept ID:
C0033036
Disease or Syndrome
A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Reduced left ventricular ejection fraction
MedGen UID:
868398
Concept ID:
C4022792
Finding
A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Sedaghat-Hamedani F, Rebs S, Kayvanpour E, Zhu C, Amr A, Müller M, Haas J, Wu J, Steinmetz LM, Ehlermann P, Streckfuss-Bömeke K, Frey N, Meder B
Int J Mol Sci 2022 Oct 13;23(20) doi: 10.3390/ijms232012230. PMID: 36293084Free PMC Article

Recent clinical studies

Etiology

Barbosa-Gouveia S, Vázquez-Mosquera ME, Gonzalez-Vioque E, Hermida-Ameijeiras Á, Valverde LL, Armstrong-Moron J, Fons-Estupiña MDC, Wintjes LT, Kappen A, Rodenburg RJ, Couce ML
Int J Mol Sci 2021 Dec 15;22(24) doi: 10.3390/ijms222413484. PMID: 34948281Free PMC Article
Kwak MJ, Lee HW, Kim YM, Cho SY, Park HD, Jin DK
Ann Clin Lab Sci 2018 Nov;48(6):785-789. PMID: 30610051
Tang LJ, Chen XF, Zhu M, Jiang JJ, Lu XB, Du YX, Wang B, Fang CF, Xue YS, Shen WF
Clin Biochem 2007 Dec;40(18):1427-30. Epub 2007 Oct 3 doi: 10.1016/j.clinbiochem.2007.09.013. PMID: 18028894

Diagnosis

Sedaghat-Hamedani F, Rebs S, Kayvanpour E, Zhu C, Amr A, Müller M, Haas J, Wu J, Steinmetz LM, Ehlermann P, Streckfuss-Bömeke K, Frey N, Meder B
Int J Mol Sci 2022 Oct 13;23(20) doi: 10.3390/ijms232012230. PMID: 36293084Free PMC Article
Machiraju P, Degtiarev V, Patel D, Hazari H, Lowry RB, Bedard T, Sinasac D, Brundler MA, Greenway SC, Khan A
J Inherit Metab Dis 2022 Mar;45(2):366-376. Epub 2021 Oct 7 doi: 10.1002/jimd.12441. PMID: 34580891
Kwak MJ, Lee HW, Kim YM, Cho SY, Park HD, Jin DK
Ann Clin Lab Sci 2018 Nov;48(6):785-789. PMID: 30610051
Nozari A, Aghaei-Moghadam E, Zeinaloo A, Mollazadeh R, Majnoon MT, Alavi A, Ghasemi Firouzabadi S, Mohammadzadeh A, Banihashemi S, Nikzaban M, Najmabadi H, Behjati F
Gene 2018 Jun 15;659:160-167. Epub 2018 Mar 15 doi: 10.1016/j.gene.2018.03.044. PMID: 29551499
Chen J, Hong D, Wang Z, Yuan Y
Clin Neuropathol 2010 Nov-Dec;29(6):351-6. doi: 10.5414/npp29351. PMID: 21073837

Prognosis

Osborn DPS, Emrahi L, Clayton J, Tabrizi MT, Wan AYB, Maroofian R, Yazdchi M, Garcia MLE, Galehdari H, Hesse C, Shariati G, Mazaheri N, Sedaghat A, Goullée H, Laing N, Jamshidi Y, Tajsharghi H
Genet Med 2021 Apr;23(4):787-792. Epub 2020 Dec 8 doi: 10.1038/s41436-020-01028-2. PMID: 33288880Free PMC Article
Nozari A, Aghaei-Moghadam E, Zeinaloo A, Mollazadeh R, Majnoon MT, Alavi A, Ghasemi Firouzabadi S, Mohammadzadeh A, Banihashemi S, Nikzaban M, Najmabadi H, Behjati F
Gene 2018 Jun 15;659:160-167. Epub 2018 Mar 15 doi: 10.1016/j.gene.2018.03.044. PMID: 29551499

Clinical prediction guides

Hitsumoto T, Tsukamoto O, Matsuoka K, Li J, Liu L, Kuramoto Y, Higo S, Ogawa S, Fujino N, Yoshida S, Kioka H, Kato H, Hakui H, Saito Y, Okamoto C, Inoue H, Hyejin J, Ueda K, Segawa T, Nishimura S, Asano Y, Asanuma H, Tani A, Imamura R, Komagawa S, Kanai T, Takamura M, Sakata Y, Kitakaze M, Haruta JI, Takashima S
Circulation 2023 Jun 20;147(25):1902-1918. Epub 2023 May 2 doi: 10.1161/CIRCULATIONAHA.122.062885. PMID: 37128901Free PMC Article
Osborn DPS, Emrahi L, Clayton J, Tabrizi MT, Wan AYB, Maroofian R, Yazdchi M, Garcia MLE, Galehdari H, Hesse C, Shariati G, Mazaheri N, Sedaghat A, Goullée H, Laing N, Jamshidi Y, Tajsharghi H
Genet Med 2021 Apr;23(4):787-792. Epub 2020 Dec 8 doi: 10.1038/s41436-020-01028-2. PMID: 33288880Free PMC Article
Surikova Y, Filatova A, Polyak M, Skoblov M, Zaklyazminskaya E
Gene 2019 May 20;697:159-164. Epub 2019 Feb 19 doi: 10.1016/j.gene.2019.02.011. PMID: 30794915
Nozari A, Aghaei-Moghadam E, Zeinaloo A, Mollazadeh R, Majnoon MT, Alavi A, Ghasemi Firouzabadi S, Mohammadzadeh A, Banihashemi S, Nikzaban M, Najmabadi H, Behjati F
Gene 2018 Jun 15;659:160-167. Epub 2018 Mar 15 doi: 10.1016/j.gene.2018.03.044. PMID: 29551499
Deharo JC, Peyre JP, Ritter PH, Chalvidan T, Berland Y, Djiane P
Pacing Clin Electrophysiol 1998 Jan;21(1 Pt 2):223-6. doi: 10.1111/j.1540-8159.1998.tb01092.x. PMID: 9474676

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