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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]

Additional description

From MedlinePlus Genetics


Over time, people with nonsyndromic dilated cardiomyopathy may develop life-threatening complications, which can include abnormal heart rhythms (arrhythmias) and heart failure. Although uncommon, sudden death can occur in people with nonsyndromic dilated cardiomyopathy, even if they have no other symptoms of the condition.

The signs and symptoms of nonsyndromic dilated cardiomyopathy vary among affected individuals, even among members of the same family. The signs and symptoms typically begin in mid-adulthood, but they can occur at any time from infancy to late adulthood. Affected individuals may have a sensation of fluttering or pounding in the chest (palpitations); shortness of breath, especially when lying down or during physical activity; fatigue; and swelling of the legs and feet. Affected individuals may also have episodes of dizziness or fainting (syncope). 

Dilated cardiomyopathy is called nonsyndromic dilated cardiomyopathy when it cannot be explained by other causes, such as a heart attack or damage to the valves of the heart, and is not associated with signs and symptoms that affect other parts of the body.  

Dilated cardiomyopathy is a form of heart disease in which the heart (cardiac) muscle becomes thin and enlarged (dilated). The dilation, which typically starts in the lower left chamber of the heart (left ventricle), makes it harder for the heart to pump blood to the rest of the body.   https://medlineplus.gov/genetics/condition/nonsyndromic-dilated-cardiomyopathy

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
Dilated cardiomyopathy is a form of heart disease in which the heart (cardiac) muscle becomes thin and enlarged (dilated). The dilation, which typically starts in the lower left chamber of the heart (left ventricle), makes it harder for the heart to pump blood to the rest of the body. \n\nDilated cardiomyopathy is called nonsyndromic dilated cardiomyopathy when it cannot be explained by other causes, such as a heart attack or damage to the valves of the heart, and is not associated with signs and symptoms that affect other parts of the body.  \n\nThe signs and symptoms of nonsyndromic dilated cardiomyopathy vary among affected individuals, even among members of the same family. The signs and symptoms typically begin in mid-adulthood, but they can occur at any time from infancy to late adulthood. Affected individuals may have a sensation of fluttering or pounding in the chest (palpitations); shortness of breath, especially when lying down or during physical activity; fatigue; and swelling of the legs and feet. Affected individuals may also have episodes of dizziness or fainting (syncope). \n\nOver time, people with nonsyndromic dilated cardiomyopathy may develop life-threatening complications, which can include abnormal heart rhythms (arrhythmias) and heart failure. Although uncommon, sudden death can occur in people with nonsyndromic dilated cardiomyopathy, even if they have no other symptoms of the condition.\n\n
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

Skowroński J, Szudejko E, Banasiak A, Milczanowski K, Jelski P, Michałowska I, Kępka C, Kruk M, Witkowski A, Pręgowski J
Cardiol J 2025;32(4):369-379. Epub 2025 May 20 doi: 10.5603/cj.104850. PMID: 40391716Free PMC Article
Bannasch DL, Oertle DT, Vo J, Batcher KL, Stern JA, Kaplan JL, Li RHL, Madden IE, Christen M, Leeb T, Joshi N
Sci Rep 2023 Nov 4;13(1):19077. doi: 10.1038/s41598-023-46601-2. PMID: 37925523Free PMC Article
Zhang M, Chen X, Yang F, Song Y, Zhang D, Chen Q, Ma Y, Wang S, Ji D, Duan Z, Zhang L, Wang Q
Int Heart J 2023;64(5):885-893. doi: 10.1536/ihj.22-663. PMID: 37778991
Tayal U, Newsome S, Buchan R, Whiffin N, Halliday B, Lota A, Roberts A, Baksi AJ, Voges I, Midwinter W, Wilk A, Govind R, Walsh R, Daubeney P, Jarman JWE, Baruah R, Frenneaux M, Barton PJ, Pennell D, Ware JS, Prasad SK, Cook SA
J Am Coll Cardiol 2017 Oct 31;70(18):2264-2274. doi: 10.1016/j.jacc.2017.08.063. PMID: 29073955Free PMC Article
Kalsi KK, Smolenski RT, Pritchard RD, Khaghani A, Seymour AM, Yacoub MH
Eur J Clin Invest 1999 Jun;29(6):469-77. doi: 10.1046/j.1365-2362.1999.00468.x. PMID: 10354207

Diagnosis

Skowroński J, Szudejko E, Banasiak A, Milczanowski K, Jelski P, Michałowska I, Kępka C, Kruk M, Witkowski A, Pręgowski J
Cardiol J 2025;32(4):369-379. Epub 2025 May 20 doi: 10.5603/cj.104850. PMID: 40391716Free PMC Article
Halliday BP, Owen R, Gregson J, Vazir A, Wassall R, Khalique Z, Lota AS, Tayal U, Hammersley DJ, Jones RE, Pennell DJ, Cowie MR, Cleland JGF, Prasad SK
ESC Heart Fail 2022 Jun;9(3):1616-1624. Epub 2022 Mar 8 doi: 10.1002/ehf2.13872. PMID: 35257498Free 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
Robinson J, Hartling L, Vandermeer B, Sebastianski M, Klassen TP
Cochrane Database Syst Rev 2020 Aug 19;8(8):CD004370. doi: 10.1002/14651858.CD004370.pub4. PMID: 32835416Free 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

Therapy

Du Plessis J, DesRoche C, Delaney S, Nethery RC, Hong R, Thavendiranathan P, Ross H, Castillo F, Hanneman K
Radiology 2025 Jul;316(1):e250331. doi: 10.1148/radiol.250331. PMID: 40590693Free PMC Article
Halliday BP, Owen R, Gregson J, Vazir A, Wassall R, Khalique Z, Lota AS, Tayal U, Hammersley DJ, Jones RE, Pennell DJ, Cowie MR, Cleland JGF, Prasad SK
ESC Heart Fail 2022 Jun;9(3):1616-1624. Epub 2022 Mar 8 doi: 10.1002/ehf2.13872. PMID: 35257498Free PMC Article
Halliday BP, Owen R, Gregson J, S Vassiliou V, Chen X, Wage R, Lota AS, Khalique Z, Tayal U, Hammersley DJ, Jones RE, Baksi AJ, Cowie MR, Cleland JGF, Pennell DJ, Prasad SK
Eur J Heart Fail 2021 Feb;23(2):293-301. Epub 2020 Dec 14 doi: 10.1002/ejhf.2063. PMID: 33225554
Robinson J, Hartling L, Vandermeer B, Sebastianski M, Klassen TP
Cochrane Database Syst Rev 2020 Aug 19;8(8):CD004370. doi: 10.1002/14651858.CD004370.pub4. PMID: 32835416Free PMC Article
Tompkins BA, Rieger AC, Florea V, Banerjee MN, Natsumeda M, Nigh ED, Landin AM, Rodriguez GM, Hatzistergos KE, Schulman IH, Hare JM
J Am Heart Assoc 2018 Jul 12;7(14) doi: 10.1161/JAHA.117.008460. PMID: 30005555Free PMC Article

Prognosis

Ishikawa T, Kimoto H, Seki A, Shirai M, Uto K, Makiyama T, Kitai T, Mishima H, Trujillano D, Simonet F, Baron E, Lindenbaum P, Kyndt F, Goudal A, Fukushima N, Fujita T, Hatakeyama K, Hagiwara N, Yoshiura KI, Redon R, Dina C, Estivill X, Ossowski S, Courtheix M, Probst V, Barc J, Schott JJ, Makita N
Cardiovasc Res 2025 Sep 29;121(11):1712-1721. doi: 10.1093/cvr/cvaf135. PMID: 40757694
Skowroński J, Szudejko E, Banasiak A, Milczanowski K, Jelski P, Michałowska I, Kępka C, Kruk M, Witkowski A, Pręgowski J
Cardiol J 2025;32(4):369-379. Epub 2025 May 20 doi: 10.5603/cj.104850. PMID: 40391716Free PMC Article
Bannasch DL, Oertle DT, Vo J, Batcher KL, Stern JA, Kaplan JL, Li RHL, Madden IE, Christen M, Leeb T, Joshi N
Sci Rep 2023 Nov 4;13(1):19077. doi: 10.1038/s41598-023-46601-2. PMID: 37925523Free 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
Tayal U, Newsome S, Buchan R, Whiffin N, Halliday B, Lota A, Roberts A, Baksi AJ, Voges I, Midwinter W, Wilk A, Govind R, Walsh R, Daubeney P, Jarman JWE, Baruah R, Frenneaux M, Barton PJ, Pennell D, Ware JS, Prasad SK, Cook SA
J Am Coll Cardiol 2017 Oct 31;70(18):2264-2274. doi: 10.1016/j.jacc.2017.08.063. PMID: 29073955Free PMC Article

Clinical prediction guides

Ishikawa T, Kimoto H, Seki A, Shirai M, Uto K, Makiyama T, Kitai T, Mishima H, Trujillano D, Simonet F, Baron E, Lindenbaum P, Kyndt F, Goudal A, Fukushima N, Fujita T, Hatakeyama K, Hagiwara N, Yoshiura KI, Redon R, Dina C, Estivill X, Ossowski S, Courtheix M, Probst V, Barc J, Schott JJ, Makita N
Cardiovasc Res 2025 Sep 29;121(11):1712-1721. doi: 10.1093/cvr/cvaf135. PMID: 40757694
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
Halliday BP, Owen R, Gregson J, Vazir A, Wassall R, Khalique Z, Lota AS, Tayal U, Hammersley DJ, Jones RE, Pennell DJ, Cowie MR, Cleland JGF, Prasad SK
ESC Heart Fail 2022 Jun;9(3):1616-1624. Epub 2022 Mar 8 doi: 10.1002/ehf2.13872. PMID: 35257498Free 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
Tayal U, Newsome S, Buchan R, Whiffin N, Halliday B, Lota A, Roberts A, Baksi AJ, Voges I, Midwinter W, Wilk A, Govind R, Walsh R, Daubeney P, Jarman JWE, Baruah R, Frenneaux M, Barton PJ, Pennell D, Ware JS, Prasad SK, Cook SA
J Am Coll Cardiol 2017 Oct 31;70(18):2264-2274. doi: 10.1016/j.jacc.2017.08.063. PMID: 29073955Free PMC Article

Recent systematic reviews

Robinson J, Hartling L, Vandermeer B, Sebastianski M, Klassen TP
Cochrane Database Syst Rev 2020 Aug 19;8(8):CD004370. doi: 10.1002/14651858.CD004370.pub4. PMID: 32835416Free PMC Article
Robinson J, Hartling L, Vandermeer B, Klassen TP
Cochrane Database Syst Rev 2015 May 20;(5):CD004370. doi: 10.1002/14651858.CD004370.pub3. PMID: 25992494

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