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Dilated cardiomyopathy 1C(CMD1C)

MedGen UID:
316944
Concept ID:
C1832244
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; Cardiomyopathy, dilated, 1C, with or without LVNC; CMD1C; LDB3-Related Dilated Cardiomyopathy
 
Gene (location): LDB3 (10q23.2)
 
Monarch Initiative: MONDO:0011094
OMIM®: 601493

Definition

An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the LDB3 gene, encoding LIM domain-binding protein 3. [from NCI]

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
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.
Left bundle branch block
MedGen UID:
7286
Concept ID:
C0023211
Disease or Syndrome
A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.
Ventricular arrhythmia
MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Endocardial fibrosis
MedGen UID:
107513
Concept ID:
C0553980
Finding
The presence of excessive connective tissue in the endocardium.
Left ventricular noncompaction
MedGen UID:
450531
Concept ID:
C1960469
Disease or Syndrome
Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.\n\nSome individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.
Increased left ventricular end-diastolic volume
MedGen UID:
1660169
Concept ID:
C4748648
Finding
Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Carboni N, Porcu M, Mura M, Cocco E, Marrosu G, Maioli MA, Solla E, Tranquilli S, Orrù P, Marrosu MG
Muscle Nerve 2010 Jan;41(1):85-91. doi: 10.1002/mus.21443. PMID: 19768759
Traverso M, Gazzerro E, Assereto S, Sotgia F, Biancheri R, Stringara S, Giberti L, Pedemonte M, Wang X, Scapolan S, Pasquini E, Donati MA, Zara F, Lisanti MP, Bruno C, Minetti C
Lab Invest 2008 Mar;88(3):275-83. Epub 2008 Feb 4 doi: 10.1038/labinvest.3700713. PMID: 18253147
Li H, Riedel R, Oldemeyer JB, Rovang K, Hee T
Am J Cardiol 2004 Jan 1;93(1):45-8. doi: 10.1016/j.amjcard.2003.09.010. PMID: 14697464
Maruyama S, Kato K, Kodama M, Okura Y, Hirono S, Fuse K, Hanawa H, Nakagawa O, Nakazawa M, Miida T, Yaoita E, Yamamoto T, Inoue I, Aizawa Y
Mol Cell Biochem 2003 Apr;246(1-2):39-44. PMID: 12841341
Dubiel JS, Zmudka K, Surdacki A, Brzostek T, Jaskiewicz J, Dimitrow PP, Dubiel JP
Cor Vasa 1992;34(5-6):373-81. PMID: 1339710

Diagnosis

Lewandowski D, Nabi F
Methodist Debakey Cardiovasc J 2022;18(3):87-88. Epub 2022 Jun 3 doi: 10.14797/mdcvj.1095. PMID: 35734149Free PMC Article
Micaglio E, Monasky MM, Bernardini A, Mecarocci V, Borrelli V, Ciconte G, Locati ET, Piccoli M, Ghiroldi A, Anastasia L, Pappone C
Int J Mol Sci 2021 Jan 12;22(2) doi: 10.3390/ijms22020670. PMID: 33445410Free PMC Article
Rezazadeh S, Guo J, Duff HJ, Ferrier RA, Gerull B
Can J Cardiol 2016 Dec;32(12):1576.e15-1576.e18. Epub 2016 Jul 27 doi: 10.1016/j.cjca.2016.07.587. PMID: 27789106
Carboni N, Porcu M, Mura M, Cocco E, Marrosu G, Maioli MA, Solla E, Tranquilli S, Orrù P, Marrosu MG
Muscle Nerve 2010 Jan;41(1):85-91. doi: 10.1002/mus.21443. PMID: 19768759

Therapy

Rezazadeh S, Guo J, Duff HJ, Ferrier RA, Gerull B
Can J Cardiol 2016 Dec;32(12):1576.e15-1576.e18. Epub 2016 Jul 27 doi: 10.1016/j.cjca.2016.07.587. PMID: 27789106
Li H, Riedel R, Oldemeyer JB, Rovang K, Hee T
Am J Cardiol 2004 Jan 1;93(1):45-8. doi: 10.1016/j.amjcard.2003.09.010. PMID: 14697464

Prognosis

Qiao Q, Zhao CM, Yang CX, Gu JN, Guo YH, Zhang M, Li RG, Qiu XB, Xu YJ, Yang YQ
Clin Chem Lab Med 2021 Apr 27;59(5):955-963. Epub 2020 Dec 3 doi: 10.1515/cclm-2020-1318. PMID: 33554560
Carboni N, Porcu M, Mura M, Cocco E, Marrosu G, Maioli MA, Solla E, Tranquilli S, Orrù P, Marrosu MG
Muscle Nerve 2010 Jan;41(1):85-91. doi: 10.1002/mus.21443. PMID: 19768759

Clinical prediction guides

Luo K, Zheng C, Luo R, Cao X, Sun H, Ma H, Huang J, Yang X, Wu X, Li X
BMC Med Genomics 2022 Sep 6;15(1):189. doi: 10.1186/s12920-022-01349-y. PMID: 36068540Free PMC Article
Pankonien I, Alvarez JL, Doller A, Köhncke C, Rotte D, Regitz-Zagrosek V, Morano I, Haase H
J Muscle Res Cell Motil 2011 Dec;32(4-5):281-90. Epub 2011 Oct 29 doi: 10.1007/s10974-011-9269-2. PMID: 22038483
Asemu G, Fishbein K, Lao QZ, Ravindran A, Herbert R, Canuto HC, Spencer RG, Soldatov NM
Channels (Austin) 2011 Mar-Apr;5(2):138-47. Epub 2011 Mar 1 doi: 10.4161/chan.5.2.14314. PMID: 21224729Free PMC Article
Dubiel JS, Zmudka K, Surdacki A, Brzostek T, Jaskiewicz J, Dimitrow PP, Dubiel JP
Cor Vasa 1992;34(5-6):373-81. PMID: 1339710

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