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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

Therapy

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
Domae K, Miyagawa S, Yoshikawa Y, Fukushima S, Hata H, Saito S, Kainuma S, Kashiyama N, Iseoka H, Ito E, Harada A, Takeda M, Sakata Y, Toda K, Pak K, Yamada T, Sawa Y
J Am Heart Assoc 2021 Jul 6;10(13):e008649. Epub 2021 Jul 2 doi: 10.1161/JAHA.117.008649. PMID: 34212772Free 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
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
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

Prognosis

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
Domae K, Miyagawa S, Yoshikawa Y, Fukushima S, Hata H, Saito S, Kainuma S, Kashiyama N, Iseoka H, Ito E, Harada A, Takeda M, Sakata Y, Toda K, Pak K, Yamada T, Sawa Y
J Am Heart Assoc 2021 Jul 6;10(13):e008649. Epub 2021 Jul 2 doi: 10.1161/JAHA.117.008649. PMID: 34212772Free 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
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
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

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
Domae K, Miyagawa S, Yoshikawa Y, Fukushima S, Hata H, Saito S, Kainuma S, Kashiyama N, Iseoka H, Ito E, Harada A, Takeda M, Sakata Y, Toda K, Pak K, Yamada T, Sawa Y
J Am Heart Assoc 2021 Jul 6;10(13):e008649. Epub 2021 Jul 2 doi: 10.1161/JAHA.117.008649. PMID: 34212772Free 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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