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Cardiomyopathy, dilated, 2G(CMD2G)

MedGen UID:
1801983
Concept ID:
C5676995
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, DILATED, 2G; CMD2G
 
Gene (location): LMOD2 (7q31.32)
 
Monarch Initiative: MONDO:0030887
OMIM®: 619897

Definition

Dilated cardiomyopathy-2G (CMD2G) is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. Cardiac tissue exhibits markedly shortened thin filaments, disorganized myofibrils, and reduced contractile force generation, resulting in the severe ventricular dysfunction observed. There is no evidence of skeletal muscle hypertrophy (Ahrens-Nicklas et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200. [from OMIM]

Clinical features

From HPO
Aortic regurgitation
MedGen UID:
8153
Concept ID:
C0003504
Disease or Syndrome
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
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.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Paroxysmal ventricular tachycardia
MedGen UID:
18315
Concept ID:
C0030591
Disease or Syndrome
Episodes of ventricular tachycardia that have a sudden onset and ending.
Cardiogenic shock
MedGen UID:
48650
Concept ID:
C0036980
Pathologic Function
Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Tricuspid regurgitation
MedGen UID:
11911
Concept ID:
C0040961
Disease or Syndrome
Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.
Right bundle branch block
MedGen UID:
88445
Concept ID:
C0085615
Disease or Syndrome
A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.
Multifocal atrial tachycardia
MedGen UID:
66362
Concept ID:
C0221158
Finding
Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.
Monomorphic ventricular tachycardia
MedGen UID:
91027
Concept ID:
C0344431
Finding
A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).
Cerebral hemorrhage
MedGen UID:
423648
Concept ID:
C2937358
Pathologic Function
Hemorrhage into the parenchyma of the brain.
Myofiber disarray
MedGen UID:
1615672
Concept ID:
C3671015
Finding
A nonparallel arrangement of cardiac myocytes.
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.
Increased Z-disc width
MedGen UID:
1716989
Concept ID:
C5397994
Finding
Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005).
Myocardial sarcomeric disarray
MedGen UID:
1625775
Concept ID:
C4531190
Anatomical Abnormality
A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.

Professional guidelines

PubMed

Kishimoto C, Shioji K, Kinoshita M, Iwase T, Tamaki S, Fujii M, Murashige A, Maruhashi H, Takeda S, Nonogi H, Hashimoto T
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Dracup K, Baker DW, Dunbar SB, Dacey RA, Brooks NH, Johnson JC, Oken C, Massie BM
JAMA 1994 Nov 9;272(18):1442-6. doi: 10.1001/jama.1994.03520180066037. PMID: 7933427
Shannon JA, Hammill SC, Gersh BJ
Mayo Clin Proc 1991 Nov;66(11):1114-9. doi: 10.1016/s0025-6196(12)65790-5. PMID: 1943242

Recent clinical studies

Etiology

Liang WC, Jong YJ, Wang CH, Wang CH, Tian X, Chen WZ, Kan TM, Minami N, Nishino I, Wong LC
Orphanet J Rare Dis 2020 Jun 23;15(1):160. doi: 10.1186/s13023-020-01445-1. PMID: 32576226Free PMC Article
He J, Yang L
Echocardiography 2019 Aug;36(8):1492-1495. Epub 2019 Jul 3 doi: 10.1111/echo.14427. PMID: 31268561Free PMC Article
Mazurkiewicz Ł, Petryka J, Śpiewak M, Miłosz-Wieczorek B, Małek ŁA, Jasińska A, Jarmus E, Marczak M, Misko J, Grzybowski J
Kardiol Pol 2017;75(8):794-803. Epub 2017 May 25 doi: 10.5603/KP.a2017.0097. PMID: 28541593
Piers SR, Everaerts K, van der Geest RJ, Hazebroek MR, Siebelink HM, Pison LA, Schalij MJ, Bekkers SC, Heymans S, Zeppenfeld K
Heart Rhythm 2015 Oct;12(10):2106-14. Epub 2015 May 22 doi: 10.1016/j.hrthm.2015.05.026. PMID: 26004942
Gasser R, Fruhwald F, Schumacher M, Seinost G, Reisinger E, Eber B, Keplinger A, Horvath R, Sedaj B, Klein W, Pierer K
Cardiovasc Drugs Ther 1996 Jul;10(3):351-60. doi: 10.1007/BF02627960. PMID: 8877079

Diagnosis

He J, Yang L
Echocardiography 2019 Aug;36(8):1492-1495. Epub 2019 Jul 3 doi: 10.1111/echo.14427. PMID: 31268561Free PMC Article
Mazurkiewicz Ł, Petryka J, Śpiewak M, Miłosz-Wieczorek B, Małek ŁA, Jasińska A, Jarmus E, Marczak M, Misko J, Grzybowski J
Kardiol Pol 2017;75(8):794-803. Epub 2017 May 25 doi: 10.5603/KP.a2017.0097. PMID: 28541593
Goldberg JF, Shah MD, Kantor PF, Rossano JW, Shaddy RE, Chiou K, Hanna J, Hagan JL, Cabrera AG, Jeewa A, Price JF
Congenit Heart Dis 2016 Dec;11(6):622-629. Epub 2016 Apr 8 doi: 10.1111/chd.12355. PMID: 27060888
Piers SR, Everaerts K, van der Geest RJ, Hazebroek MR, Siebelink HM, Pison LA, Schalij MJ, Bekkers SC, Heymans S, Zeppenfeld K
Heart Rhythm 2015 Oct;12(10):2106-14. Epub 2015 May 22 doi: 10.1016/j.hrthm.2015.05.026. PMID: 26004942
Gasser R, Fruhwald F, Schumacher M, Seinost G, Reisinger E, Eber B, Keplinger A, Horvath R, Sedaj B, Klein W, Pierer K
Cardiovasc Drugs Ther 1996 Jul;10(3):351-60. doi: 10.1007/BF02627960. PMID: 8877079

Therapy

Hazebroek MR, Henkens MTHM, Raafs AG, Verdonschot JAJ, Merken JJ, Dennert RM, Eurlings C, Abdul Hamid MA, Wolffs PFG, Winkens B, Brunner-La Rocca HP, Knackstedt C, van Paassen P, van Empel VPM, Heymans SRB
Eur J Heart Fail 2021 Feb;23(2):302-309. Epub 2021 Jan 7 doi: 10.1002/ejhf.2082. PMID: 33347677Free 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
Dennert R, Velthuis S, Schalla S, Eurlings L, van Suylen RJ, van Paassen P, Tervaert JW, Wolffs P, Goossens VJ, Bruggeman C, Waltenberger J, Crijns HJ, Heymans S
Antivir Ther 2010;15(2):193-201. doi: 10.3851/IMP1516. PMID: 20386074
McNamara DM, Rosenblum WD, Janosko KM, Trost MK, Villaneuva FS, Demetris AJ, Murali S, Feldman AM
Circulation 1997 Jun 3;95(11):2476-8. doi: 10.1161/01.cir.95.11.2476. PMID: 9184576
Gasser R, Fruhwald F, Schumacher M, Seinost G, Reisinger E, Eber B, Keplinger A, Horvath R, Sedaj B, Klein W, Pierer K
Cardiovasc Drugs Ther 1996 Jul;10(3):351-60. doi: 10.1007/BF02627960. PMID: 8877079

Prognosis

Chamova T, Bichev S, Todorov T, Gospodinova M, Taneva A, Kastreva K, Zlatareva D, Krupev M, Hadjiivanov R, Guergueltcheva V, Grozdanova L, Tzoneva D, Huebner A, V der Hagen M, Schoser B, Lochmüller H, Todorova A, Tournev I
Neuromuscul Disord 2018 Aug;28(8):625-632. Epub 2018 May 17 doi: 10.1016/j.nmd.2018.05.005. PMID: 29935994
Mazurkiewicz Ł, Petryka J, Śpiewak M, Miłosz-Wieczorek B, Małek ŁA, Jasińska A, Jarmus E, Marczak M, Misko J, Grzybowski J
Kardiol Pol 2017;75(8):794-803. Epub 2017 May 25 doi: 10.5603/KP.a2017.0097. PMID: 28541593
Goldberg JF, Shah MD, Kantor PF, Rossano JW, Shaddy RE, Chiou K, Hanna J, Hagan JL, Cabrera AG, Jeewa A, Price JF
Congenit Heart Dis 2016 Dec;11(6):622-629. Epub 2016 Apr 8 doi: 10.1111/chd.12355. PMID: 27060888
Piers SR, Everaerts K, van der Geest RJ, Hazebroek MR, Siebelink HM, Pison LA, Schalij MJ, Bekkers SC, Heymans S, Zeppenfeld K
Heart Rhythm 2015 Oct;12(10):2106-14. Epub 2015 May 22 doi: 10.1016/j.hrthm.2015.05.026. PMID: 26004942
Dracup K, Baker DW, Dunbar SB, Dacey RA, Brooks NH, Johnson JC, Oken C, Massie BM
JAMA 1994 Nov 9;272(18):1442-6. doi: 10.1001/jama.1994.03520180066037. PMID: 7933427

Clinical prediction guides

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
Mazurkiewicz Ł, Petryka J, Śpiewak M, Miłosz-Wieczorek B, Małek ŁA, Jasińska A, Jarmus E, Marczak M, Misko J, Grzybowski J
Kardiol Pol 2017;75(8):794-803. Epub 2017 May 25 doi: 10.5603/KP.a2017.0097. PMID: 28541593
Piers SR, Everaerts K, van der Geest RJ, Hazebroek MR, Siebelink HM, Pison LA, Schalij MJ, Bekkers SC, Heymans S, Zeppenfeld K
Heart Rhythm 2015 Oct;12(10):2106-14. Epub 2015 May 22 doi: 10.1016/j.hrthm.2015.05.026. PMID: 26004942
Silva AP
Clin Drug Investig 2009;29 Suppl 2:23-5. doi: 10.2165/1153130-S0-000000000-00000. PMID: 19938884
Marin-Neto JA, Maciel BC, Urbanetz LL, Gallo Júnior L, Almeida-Filho OC, Amorim DS
Am Heart J 1991 Jan;121(1 Pt 1):134-40. doi: 10.1016/0002-8703(91)90966-l. PMID: 1985355

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

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