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Cardiomyopathy, dilated, 2H(CMD2H)

MedGen UID:
1824069
•Concept ID:
C5774296
•
Disease or Syndrome
Synonym: CMD2H
 
Gene (location): GET3 (19p13.13)
 
Monarch Initiative: MONDO:0859358
OMIM®: 620203

Definition

CMD2H is an autosomal recessive disorder characterized by rapidly progressive dilated cardiomyopathy and death in early infancy (Verhagen 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
Atrial septal defect, ostium secundum type
MedGen UID:
91034
•Concept ID:
C0344724
•
Congenital Abnormality
A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.
See: Feature record | Search on this feature
Muscular ventricular septal defect
MedGen UID:
473253
•Concept ID:
C0685707
•
Congenital Abnormality
The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Feeding difficulties
MedGen UID:
65429
•Concept ID:
C0232466
•
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
See: Feature record | Search on this feature
Tachypnea
MedGen UID:
66669
•Concept ID:
C0231835
•
Finding
Very rapid breathing.
See: Feature record | Search on this feature
Cardiorespiratory arrest
MedGen UID:
154664
•Concept ID:
C0600228
•
Pathologic Function
Cessation of breathing and/or cardiac function.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

New data on the antiarrhythmic value of parenteral magnesium treatment: magnesium and ventricular arrhythmias.
Perticone F, Ceravolo R, De Novara G, Torchia L, Cloro C
Magnes Res 1992 Dec;5(4):265-72. PMID: 1296762

Recent clinical studies

Etiology

Melissa officinalis L. Supplementation Provides Cardioprotection in a Rat Model of Experimental Autoimmune Myocarditis.
Draginic ND, Jakovljevic VL, Jeremic JN, Srejovic IM, Andjic MM, Rankovic MR, Sretenovic JZ, Zivkovic VI, Ljujic BT, Mitrovic SL, Bolevich SS, Bolevich SB, Milosavljevic IM
Oxid Med Cell Longev 2022;2022:1344946. Epub 2022 Feb 28 doi: 10.1155/2022/1344946. PMID: 35265259Free PMC Article
The role of postprandial very-low-density lipoprotein in the development of atrial remodeling in metabolic syndrome.
Lee HC, Shin SJ, Huang JK, Lin MY, Lin YH, Ke LY, Jiang HJ, Tsai WC, Chao MF, Lin YH
Lipids Health Dis 2020 Sep 22;19(1):210. doi: 10.1186/s12944-020-01386-5. PMID: 32962696Free PMC Article
Relationship between cardiac autonomic function and sustained ventricular tachyarrhythmias in patients with an implantable cardioverter defibrillators.
Battipaglia I, Barone L, Mariani L, Infusino F, Remoli R, Careri G, Pinnacchio G, Tarzia P, Lanza GA, Crea F
Europace 2010 Dec;12(12):1725-31. doi: 10.1093/europace/euq408. PMID: 21097480
Contrast enhancement in cardiac MDCT: comparison of iodixanol 320 versus iohexol 350.
Tsai IC, Lee T, Tsai WL, Chen MC, Wu MJ, Lee WL, Ting HJ
AJR Am J Roentgenol 2008 Jan;190(1):W47-53. doi: 10.2214/AJR.07.2541. PMID: 18094272
Ventricular arrhythmia in Duchenne muscular dystrophy: prevalence, significance and prognosis.
Chenard AA, Becane HM, Tertrain F, de Kermadec JM, Weiss YA
Neuromuscul Disord 1993 May;3(3):201-6. doi: 10.1016/0960-8966(93)90060-w. PMID: 7691292

Diagnosis

Proteome Dynamics and Bioinformatics Reveal Major Alterations in the Turnover Rate of Functionally Related Cardiac and Plasma Proteins in a Dog Model of Congestive Heart Failure.
Gabisonia K, Burjanadze G, Woitek F, Keles A, Seki M, Gorgodze N, Carlucci L, Ilchenko S, Kurishima C, Walsh K, Piontkivska H, Recchia FA, Kasumov T
J Card Fail 2022 Apr;28(4):588-600. Epub 2021 Nov 14 doi: 10.1016/j.cardfail.2021.11.011. PMID: 34785403
The role of postprandial very-low-density lipoprotein in the development of atrial remodeling in metabolic syndrome.
Lee HC, Shin SJ, Huang JK, Lin MY, Lin YH, Ke LY, Jiang HJ, Tsai WC, Chao MF, Lin YH
Lipids Health Dis 2020 Sep 22;19(1):210. doi: 10.1186/s12944-020-01386-5. PMID: 32962696Free PMC Article
Sudden infant death from dilated cardiomyopathy with endocardial fibroelastosis.
Takahashi S, Kanetake J, Moriya T, Funayama M
Leg Med (Tokyo) 2008 Sep;10(5):277-80. Epub 2008 Apr 28 doi: 10.1016/j.legalmed.2008.03.001. PMID: 18442941
Prevalence of normal coronary angiography in the acute phase of suspected ST-elevation myocardial infarction: experience from the PRAGUE studies.
Widimsky P, Stellova B, Groch L, Aschermann M, Branny M, Zelizko M, Stasek J, Formanek P; PRAGUE Study Group Investigators
Can J Cardiol 2006 Nov;22(13):1147-52. doi: 10.1016/s0828-282x(06)70952-7. PMID: 17102833Free PMC Article
Contrast superharmonic imaging: a feasibility study.
Bouakaz A, Krenning BJ, Vletter WB, ten Cate FJ, De Jong N
Ultrasound Med Biol 2003 Apr;29(4):547-53. doi: 10.1016/s0301-5629(03)00012-7. PMID: 12749924

Therapy

Melissa officinalis L. Supplementation Provides Cardioprotection in a Rat Model of Experimental Autoimmune Myocarditis.
Draginic ND, Jakovljevic VL, Jeremic JN, Srejovic IM, Andjic MM, Rankovic MR, Sretenovic JZ, Zivkovic VI, Ljujic BT, Mitrovic SL, Bolevich SS, Bolevich SB, Milosavljevic IM
Oxid Med Cell Longev 2022;2022:1344946. Epub 2022 Feb 28 doi: 10.1155/2022/1344946. PMID: 35265259Free PMC Article
Proteome Dynamics and Bioinformatics Reveal Major Alterations in the Turnover Rate of Functionally Related Cardiac and Plasma Proteins in a Dog Model of Congestive Heart Failure.
Gabisonia K, Burjanadze G, Woitek F, Keles A, Seki M, Gorgodze N, Carlucci L, Ilchenko S, Kurishima C, Walsh K, Piontkivska H, Recchia FA, Kasumov T
J Card Fail 2022 Apr;28(4):588-600. Epub 2021 Nov 14 doi: 10.1016/j.cardfail.2021.11.011. PMID: 34785403
The role of postprandial very-low-density lipoprotein in the development of atrial remodeling in metabolic syndrome.
Lee HC, Shin SJ, Huang JK, Lin MY, Lin YH, Ke LY, Jiang HJ, Tsai WC, Chao MF, Lin YH
Lipids Health Dis 2020 Sep 22;19(1):210. doi: 10.1186/s12944-020-01386-5. PMID: 32962696Free PMC Article
Contrast enhancement in cardiac MDCT: comparison of iodixanol 320 versus iohexol 350.
Tsai IC, Lee T, Tsai WL, Chen MC, Wu MJ, Lee WL, Ting HJ
AJR Am J Roentgenol 2008 Jan;190(1):W47-53. doi: 10.2214/AJR.07.2541. PMID: 18094272
Cardiac transplantation under new legislation for organ transplantation in Japan: report of two cases.
Kitamura S, Nakatani T, Yagihara T, Sasako Y, Kobayashi J, Bando K, Minatoya K, Hanatani A, Komamura K, Imakita M, Yutani C, Kuro M, Kimura K, Nonogi H, Miyatake K
Jpn Circ J 2000 May;64(5):333-9. doi: 10.1253/jcj.64.333. PMID: 10834447

Prognosis

The role of postprandial very-low-density lipoprotein in the development of atrial remodeling in metabolic syndrome.
Lee HC, Shin SJ, Huang JK, Lin MY, Lin YH, Ke LY, Jiang HJ, Tsai WC, Chao MF, Lin YH
Lipids Health Dis 2020 Sep 22;19(1):210. doi: 10.1186/s12944-020-01386-5. PMID: 32962696Free PMC Article
Relationship between cardiac autonomic function and sustained ventricular tachyarrhythmias in patients with an implantable cardioverter defibrillators.
Battipaglia I, Barone L, Mariani L, Infusino F, Remoli R, Careri G, Pinnacchio G, Tarzia P, Lanza GA, Crea F
Europace 2010 Dec;12(12):1725-31. doi: 10.1093/europace/euq408. PMID: 21097480
First-dose hypotension after angiotensin-converting enzyme (ACE) inhibitors in chronic heart failure: a comparison of enalapril and perindopril. Slovak Investigator Group.
Vítovec J, Spinar J
Eur J Heart Fail 2000 Sep;2(3):299-304. doi: 10.1016/s1388-9842(00)00095-7. PMID: 10938492
Ventricular arrhythmia in Duchenne muscular dystrophy: prevalence, significance and prognosis.
Chenard AA, Becane HM, Tertrain F, de Kermadec JM, Weiss YA
Neuromuscul Disord 1993 May;3(3):201-6. doi: 10.1016/0960-8966(93)90060-w. PMID: 7691292

Clinical prediction guides

The role of postprandial very-low-density lipoprotein in the development of atrial remodeling in metabolic syndrome.
Lee HC, Shin SJ, Huang JK, Lin MY, Lin YH, Ke LY, Jiang HJ, Tsai WC, Chao MF, Lin YH
Lipids Health Dis 2020 Sep 22;19(1):210. doi: 10.1186/s12944-020-01386-5. PMID: 32962696Free PMC Article
Abnormal glucose tolerance contributes to the progression of chronic heart failure in patients with dilated cardiomyopathy.
Kim J, Nakatani S, Hashimura K, Komamura K, Kanzaki H, Asakura M, Asanuma H, Kokubo Y, Tomoike H, Kitakaze M
Hypertens Res 2006 Oct;29(10):775-82. doi: 10.1291/hypres.29.775. PMID: 17283864
Validation of myocardial perfusion reserve measurements using regularized factor images of H(2)(15)O dynamic PET scans.
Frouin F, Merlet P, Bouchareb Y, Frouin V, Dubois-Randé JL, De Cesare A, Herment A, Syrota A, Todd-Pokropek A
J Nucl Med 2001 Dec;42(12):1737-46. PMID: 11752068
New data on the antiarrhythmic value of parenteral magnesium treatment: magnesium and ventricular arrhythmias.
Perticone F, Ceravolo R, De Novara G, Torchia L, Cloro C
Magnes Res 1992 Dec;5(4):265-72. PMID: 1296762
Hemodynamic, pharmacokinetic and clinical response to CI-930 in congestive heart failure due to ischemic or dilated cardiomyopathy.
Jafri SM, Burlew BS, Goldberg AD, Olson S, Froelich JW, Goldstein S
Am J Cardiol 1987 May 1;59(12):1126-30. doi: 10.1016/0002-9149(87)90860-5. PMID: 3578054

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