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Cardiomyopathy, dilated, 2D(CMD2D)

MedGen UID:
1782612
Concept ID:
C5543535
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, DILATED, 2D; CMD2D
 
Gene (location): RPL3L (16p13.3)
 
Monarch Initiative: MONDO:0030300
OMIM®: 619371

Definition

Dilated cardiomyopathy-2D (CMD2D) is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation (Ganapathi et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200. [from OMIM]

Clinical features

From HPO
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.
Patent foramen ovale
MedGen UID:
8891
Concept ID:
C0016522
Congenital Abnormality
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
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.
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.
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.
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.
Right atrial enlargement
MedGen UID:
677114
Concept ID:
C0748427
Disease or Syndrome
Increase in size of the right atrium.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
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.
Interstitial cardiac fibrosis
MedGen UID:
1620902
Concept ID:
C4531194
Finding
A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.
Perinuclear cardiomyocyte vacuolization
MedGen UID:
1800809
Concept ID:
C5558373
Finding
Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.

Professional guidelines

PubMed

Alcántara-Ortigoza MA, Reyna-Fabián ME, González-Del Angel A, Estandia-Ortega B, Bermúdez-López C, Cruz-Miranda GM, Ruíz-García M
Genes (Basel) 2019 Oct 29;10(11) doi: 10.3390/genes10110856. PMID: 31671740Free PMC Article
Sicari R, Nihoyannopoulos P, Evangelista A, Kasprzak J, Lancellotti P, Poldermans D, Voigt JU, Zamorano JL; European Association of Echocardiography
Eur J Echocardiogr 2008 Jul;9(4):415-37. doi: 10.1093/ejechocard/jen175. PMID: 18579481

Recent clinical studies

Etiology

Ali AA, Habib SA, AbdElaziz OH, Mohammad SA
Echocardiography 2023 Nov;40(11):1166-1176. Epub 2023 Sep 7 doi: 10.1111/echo.15676. PMID: 37676474
Guigui SA, Horvath SA, Arenas IA, Mihos CG
J Echocardiogr 2022 Sep;20(3):144-150. Epub 2022 Jan 8 doi: 10.1007/s12574-021-00560-7. PMID: 34997537
Zuo H, Zhang Y, Ma F, Li R, Wang Y, Li C, Wang H, Wang DW
Ultrasound Med Biol 2020 Feb;46(2):233-243. Epub 2019 Nov 9 doi: 10.1016/j.ultrasmedbio.2019.10.006. PMID: 31718811
Zairi I, Mzoughi K, Jabeur M, Jnifene Z, Ben Moussa F, Kamoun S, Fennira S, Kraiem S
Tunis Med 2017 Feb;95(2):87-91. PMID: 29424865
Guler A, Tigen KM, Dundar C, Karaahmet T, Karabay CY, Aung SM, Akgun T, Bulut M, Kirma C
Herz 2014 Mar;39(2):251-7. Epub 2013 May 8 doi: 10.1007/s00059-013-3817-z. PMID: 23649320

Diagnosis

Albaeni A, Davis JW, Ahmad M
Echocardiography 2021 Jun;38(6):1002-1016. Epub 2021 May 10 doi: 10.1111/echo.15066. PMID: 33971043
Zairi I, Mzoughi K, Jabeur M, Jnifene Z, Ben Moussa F, Kamoun S, Fennira S, Kraiem S
Tunis Med 2017 Feb;95(2):87-91. PMID: 29424865
Mahajani V, Suratkal V
J Assoc Physicians India 2016 Jun;64(6):60-63. PMID: 27739268
Gulati V, Harikrishnan P, Palaniswamy C, Aronow WS, Jain D, Frishman WH
Cardiol Rev 2014 Mar-Apr;22(2):56-68. doi: 10.1097/CRD.0b013e3182a67805. PMID: 24503941
Guler A, Tigen KM, Dundar C, Karaahmet T, Karabay CY, Aung SM, Akgun T, Bulut M, Kirma C
Herz 2014 Mar;39(2):251-7. Epub 2013 May 8 doi: 10.1007/s00059-013-3817-z. PMID: 23649320

Therapy

Amedro P, Vincenti M, De La Villeon G, Lavastre K, Barrea C, Guillaumont S, Bredy C, Gamon L, Meli AC, Cazorla O, Fauconnier J, Meyer P, Rivier F, Adda J, Mura T, Lacampagne A
J Am Soc Echocardiogr 2019 Mar;32(3):412-422. Epub 2019 Jan 21 doi: 10.1016/j.echo.2018.10.017. PMID: 30679141
Gulati V, Harikrishnan P, Palaniswamy C, Aronow WS, Jain D, Frishman WH
Cardiol Rev 2014 Mar-Apr;22(2):56-68. doi: 10.1097/CRD.0b013e3182a67805. PMID: 24503941
Lee CK, Margossian R, Sleeper LA, Canter CE, Chen S, Tani LY, Shirali G, Szwast A, Tierney ES, Campbell MJ, Golding F, Wang Y, Altmann K, Colan SD; Pediatric Heart Network Investigators
Pediatr Cardiol 2014 Apr;35(4):658-67. Epub 2013 Nov 22 doi: 10.1007/s00246-013-0835-9. PMID: 24265000Free PMC Article
Bahrmann P, Hengst UM, Richartz BM, Figulla HR
Eur J Heart Fail 2004 Mar 1;6(2):195-201. doi: 10.1016/j.ejheart.2003.09.005. PMID: 14984727
Stern H, Weil J, Genz T, Vogt W, Bühlmeyer K
Pediatr Cardiol 1990 Jan;11(1):22-8. doi: 10.1007/BF02239543. PMID: 2406705

Prognosis

Gu L, Jiang W, Zheng R, Yao Y, Ma G
Cardiology 2021;146(1):27-33. Epub 2020 Dec 2 doi: 10.1159/000509239. PMID: 33264784
Zuo H, Zhang Y, Ma F, Li R, Wang Y, Li C, Wang H, Wang DW
Ultrasound Med Biol 2020 Feb;46(2):233-243. Epub 2019 Nov 9 doi: 10.1016/j.ultrasmedbio.2019.10.006. PMID: 31718811
Zairi I, Mzoughi K, Jabeur M, Jnifene Z, Ben Moussa F, Kamoun S, Fennira S, Kraiem S
Tunis Med 2017 Feb;95(2):87-91. PMID: 29424865
Gulati V, Harikrishnan P, Palaniswamy C, Aronow WS, Jain D, Frishman WH
Cardiol Rev 2014 Mar-Apr;22(2):56-68. doi: 10.1097/CRD.0b013e3182a67805. PMID: 24503941
Guler A, Tigen KM, Dundar C, Karaahmet T, Karabay CY, Aung SM, Akgun T, Bulut M, Kirma C
Herz 2014 Mar;39(2):251-7. Epub 2013 May 8 doi: 10.1007/s00059-013-3817-z. PMID: 23649320

Clinical prediction guides

Athavale B, Pathak J
J Assoc Physicians India 2022 Jul;70(7):11-12. doi: 10.5005/japi-11001-0046. PMID: 35833396
Zuo H, Zhang Y, Ma F, Li R, Wang Y, Li C, Wang H, Wang DW
Ultrasound Med Biol 2020 Feb;46(2):233-243. Epub 2019 Nov 9 doi: 10.1016/j.ultrasmedbio.2019.10.006. PMID: 31718811
Kinova E, Somleva-Todorova D, Goudev A
Cardiology 2020;145(1):1-12. Epub 2019 Nov 12 doi: 10.1159/000503682. PMID: 31715595
Zairi I, Mzoughi K, Jabeur M, Jnifene Z, Ben Moussa F, Kamoun S, Fennira S, Kraiem S
Tunis Med 2017 Feb;95(2):87-91. PMID: 29424865
Guler A, Tigen KM, Dundar C, Karaahmet T, Karabay CY, Aung SM, Akgun T, Bulut M, Kirma C
Herz 2014 Mar;39(2):251-7. Epub 2013 May 8 doi: 10.1007/s00059-013-3817-z. PMID: 23649320

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