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Left ventricular noncompaction 6(CMD1D)

MedGen UID:
316943
Concept ID:
C1832243
Disease or Syndrome
Synonyms: CMD1D; Dilated cardiomyopathy 1D; TNNT2-Related Dilated Cardiomyopathy
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): TNNT2 (1q32.1)
OMIM®: 601494

Disease characteristics

Excerpted from the GeneReview: Dilated Cardiomyopathy Overview
Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes  |  Evaluation Strategy to Identify or Confirm FDC  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Ray E Hershberger  |  Ana Morales   view full author information

Additional descriptions

From GeneReviews Overview
Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke.  https://www.ncbi.nlm.nih.gov/books/NBK1309
From GHR
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.Some 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.  https://ghr.nlm.nih.gov/condition/left-ventricular-noncompaction

Clinical features

Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. PMID: 23788249Free PMC Article

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Recent clinical studies

Etiology

Gardner MM, Cohen MS
Congenit Heart Dis 2017 Dec;12(6):783-786. Epub 2017 Jun 23 doi: 10.1111/chd.12506. PMID: 28643402
Anderson RH, Jensen B, Mohun TJ, Petersen SE, Aung N, Zemrak F, Planken RN, MacIver DH
Can J Cardiol 2017 Jun;33(6):747-757. Epub 2017 Feb 1 doi: 10.1016/j.cjca.2017.01.017. PMID: 28395867
Diwadkar S, Nallamshetty L, Rojas C, Athienitis A, Declue C, Cox C, Patel A, Chae SH
Clin Cardiol 2017 Jun;40(6):364-369. Epub 2017 Mar 7 doi: 10.1002/clc.22669. PMID: 28267213
Muser D, Liang JJ, Witschey WR, Pathak RK, Castro S, Magnani S, Zado ES, Garcia FC, Desjardins B, Callans DJ, Frankel DS, Marchlinski FE, Santangeli P
Heart Rhythm 2017 Feb;14(2):166-175. Epub 2016 Nov 24 doi: 10.1016/j.hrthm.2016.11.014. PMID: 27890738
Gati S, Papadakis M, Papamichael ND, Zaidi A, Sheikh N, Reed M, Sharma R, Thilaganathan B, Sharma S
Circulation 2014 Aug 5;130(6):475-83. Epub 2014 Jul 8 doi: 10.1161/CIRCULATIONAHA.114.008554. PMID: 25006201

Diagnosis

Gardner MM, Cohen MS
Congenit Heart Dis 2017 Dec;12(6):783-786. Epub 2017 Jun 23 doi: 10.1111/chd.12506. PMID: 28643402
Anderson RH, Jensen B, Mohun TJ, Petersen SE, Aung N, Zemrak F, Planken RN, MacIver DH
Can J Cardiol 2017 Jun;33(6):747-757. Epub 2017 Feb 1 doi: 10.1016/j.cjca.2017.01.017. PMID: 28395867
Diwadkar S, Nallamshetty L, Rojas C, Athienitis A, Declue C, Cox C, Patel A, Chae SH
Clin Cardiol 2017 Jun;40(6):364-369. Epub 2017 Mar 7 doi: 10.1002/clc.22669. PMID: 28267213
Muser D, Liang JJ, Witschey WR, Pathak RK, Castro S, Magnani S, Zado ES, Garcia FC, Desjardins B, Callans DJ, Frankel DS, Marchlinski FE, Santangeli P
Heart Rhythm 2017 Feb;14(2):166-175. Epub 2016 Nov 24 doi: 10.1016/j.hrthm.2016.11.014. PMID: 27890738
Ottaviani G, Segura AM, Rajapreyar IN, Zhao B, Radovancevic R, Loyalka P, Kar B, Gregoric I, Buja LM
Cardiovasc Pathol 2016 Jul-Aug;25(4):293-299. Epub 2016 Mar 30 doi: 10.1016/j.carpath.2016.03.004. PMID: 27135206

Therapy

Muser D, Liang JJ, Witschey WR, Pathak RK, Castro S, Magnani S, Zado ES, Garcia FC, Desjardins B, Callans DJ, Frankel DS, Marchlinski FE, Santangeli P
Heart Rhythm 2017 Feb;14(2):166-175. Epub 2016 Nov 24 doi: 10.1016/j.hrthm.2016.11.014. PMID: 27890738
Choi Y, Kim SM, Lee SC, Chang SA, Jang SY, Choe YH
J Cardiovasc Magn Reson 2016 May 4;18(1):24. doi: 10.1186/s12968-016-0245-2. PMID: 27142637Free PMC Article
Shen Y, Li X, Lu D, Xiao A, Li J
Medicine (Baltimore) 2015 Sep;94(36):e1425. doi: 10.1097/MD.0000000000001425. PMID: 26356695Free PMC Article
Li J, Franke J, Pribe-Wolferts R, Meder B, Ehlermann P, Mereles D, Andre F, Abdelrazek MA, Merten C, Schweizer PA, Becker R, Katus HA, Thomas D
Clin Res Cardiol 2015 Mar;104(3):241-9. Epub 2014 Oct 21 doi: 10.1007/s00392-014-0778-z. PMID: 25331160
Peters F, Khandheria BK, Botha F, Libhaber E, Matioda H, Dos Santos C, Govender S, Meel R, Essop MR
J Card Fail 2014 Oct;20(10):709-15. Epub 2014 Jul 29 doi: 10.1016/j.cardfail.2014.07.007. PMID: 25079299

Prognosis

Gardner MM, Cohen MS
Congenit Heart Dis 2017 Dec;12(6):783-786. Epub 2017 Jun 23 doi: 10.1111/chd.12506. PMID: 28643402
Anderson RH, Jensen B, Mohun TJ, Petersen SE, Aung N, Zemrak F, Planken RN, MacIver DH
Can J Cardiol 2017 Jun;33(6):747-757. Epub 2017 Feb 1 doi: 10.1016/j.cjca.2017.01.017. PMID: 28395867
Muser D, Liang JJ, Witschey WR, Pathak RK, Castro S, Magnani S, Zado ES, Garcia FC, Desjardins B, Callans DJ, Frankel DS, Marchlinski FE, Santangeli P
Heart Rhythm 2017 Feb;14(2):166-175. Epub 2016 Nov 24 doi: 10.1016/j.hrthm.2016.11.014. PMID: 27890738
Gati S, Papadakis M, Papamichael ND, Zaidi A, Sheikh N, Reed M, Sharma R, Thilaganathan B, Sharma S
Circulation 2014 Aug 5;130(6):475-83. Epub 2014 Jul 8 doi: 10.1161/CIRCULATIONAHA.114.008554. PMID: 25006201
de Melo MD, Benvenuti LA, Mady C, Kalil-Filho R, Salemi VM
Cardiovasc Pathol 2013 Nov-Dec;22(6):503-4. Epub 2013 Jun 22 doi: 10.1016/j.carpath.2013.05.001. PMID: 23797018

Clinical prediction guides

Anderson RH, Jensen B, Mohun TJ, Petersen SE, Aung N, Zemrak F, Planken RN, MacIver DH
Can J Cardiol 2017 Jun;33(6):747-757. Epub 2017 Feb 1 doi: 10.1016/j.cjca.2017.01.017. PMID: 28395867
Andreini D, Pontone G, Bogaert J, Roghi A, Barison A, Schwitter J, Mushtaq S, Vovas G, Sormani P, Aquaro GD, Monney P, Segurini C, Guglielmo M, Conte E, Fusini L, Dello Russo A, Lombardi M, Gripari P, Baggiano A, Fiorentini C, Lombardi F, Bartorelli AL, Pepi M, Masci PG
J Am Coll Cardiol 2016 Nov 15;68(20):2166-2181. doi: 10.1016/j.jacc.2016.08.053. PMID: 27855806
Ottaviani G, Segura AM, Rajapreyar IN, Zhao B, Radovancevic R, Loyalka P, Kar B, Gregoric I, Buja LM
Cardiovasc Pathol 2016 Jul-Aug;25(4):293-299. Epub 2016 Mar 30 doi: 10.1016/j.carpath.2016.03.004. PMID: 27135206
Stacey RB, Andersen M, Haag J, Hall ME, McLeod G, Upadhya B, Hundley WG, Thohan V
Am J Cardiol 2014 Mar 15;113(6):1018-23. Epub 2013 Dec 25 doi: 10.1016/j.amjcard.2013.12.008. PMID: 24462071Free PMC Article
Kimura K, Takenaka K, Ebihara A, Uno K, Morita H, Nakajima T, Ozawa T, Aida I, Yonemochi Y, Higuchi S, Motoyoshi Y, Mikata T, Uchida I, Ishihara T, Komori T, Kitao R, Nagata T, Takeda S, Yatomi Y, Nagai R, Komuro I
Int J Cardiol 2013 Oct 3;168(3):1900-4. Epub 2013 Jan 17 doi: 10.1016/j.ijcard.2012.12.058. PMID: 23333368

Recent systematic reviews

Bhatia NL, Tajik AJ, Wilansky S, Steidley DE, Mookadam F
J Card Fail 2011 Sep;17(9):771-8. doi: 10.1016/j.cardfail.2011.05.002. PMID: 21872148

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