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Echogenic intracardiac focus

MedGen UID:
869212
Concept ID:
C4023634
Finding
HPO: HP:0010942

Definition

A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEchogenic intracardiac focus

Conditions with this feature

Intellectual disability, autosomal dominant 48
MedGen UID:
1619532
Concept ID:
C4540321
Mental or Behavioral Dysfunction
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities.
Congenital myopathy 20
MedGen UID:
1841029
Concept ID:
C5830393
Disease or Syndrome
Congenital myopathy-20 (CMYP20) is an autosomal recessive neuromuscular disorder that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. Additional features may include dysmorphic facial features and global developmental delay. Skeletal muscle biopsy may show nemaline rods (Nilipour et al., 2018; Pehlivan et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).

Recent clinical studies

Etiology

Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Rodriguez R, Herrero B, Bartha JL
Curr Opin Obstet Gynecol 2013 Apr;25(2):145-51. doi: 10.1097/GCO.0b013e32835e14eb. PMID: 23340246
Bethune M
Australas Radiol 2007 Aug;51(4):324-9. doi: 10.1111/j.1440-1673.2007.01716.x. PMID: 17635467
Filly RA, Benacerraf BR, Nyberg DA, Hobbins JC
J Ultrasound Med 2004 Apr;23(4):447-9. doi: 10.7863/jum.2004.23.4.447. PMID: 15098860
Bromley B, Lieberman E, Shipp TD, Richardson M, Benacerraf BR
J Ultrasound Med 1998 Feb;17(2):127-31. doi: 10.7863/jum.1998.17.2.127. PMID: 9527573

Diagnosis

Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Koutras A, Fasoulakis Z, Halil A, Kontomanolis EN
Folia Med (Plovdiv) 2021 Feb 28;63(1):142-147. doi: 10.3897/folmed.63.e54171. PMID: 33650408
Rodriguez R, Herrero B, Bartha JL
Curr Opin Obstet Gynecol 2013 Apr;25(2):145-51. doi: 10.1097/GCO.0b013e32835e14eb. PMID: 23340246
Filly RA, Benacerraf BR, Nyberg DA, Hobbins JC
J Ultrasound Med 2004 Apr;23(4):447-9. doi: 10.7863/jum.2004.23.4.447. PMID: 15098860
Winn VD, Sonson J, Filly RA
J Ultrasound Med 2003 Nov;22(11):1207-14; quiz 1216-7. doi: 10.7863/jum.2003.22.11.1207. PMID: 14620892

Therapy

Huang Q, Cheng W, Huang Y
Clin Exp Obstet Gynecol 2015;42(6):763-6. PMID: 26753481
Winn VD, Sonson J, Filly RA
J Ultrasound Med 2003 Nov;22(11):1207-14; quiz 1216-7. doi: 10.7863/jum.2003.22.11.1207. PMID: 14620892
Caughey AB, Lyell DJ, Filly RA, Washington AE, Norton ME
Am J Obstet Gynecol 2001 Nov;185(5):1021-7. doi: 10.1067/mob.2001.117674. PMID: 11717625
Levine D, Mehta TS, Min KK, Hulka CA, McArdle CR
J Clin Ultrasound 2000 Nov-Dec;28(9):479-84. doi: 10.1002/1097-0096(200011/12)28:9<479::aid-jcu5>3.0.co;2-b. PMID: 11056025
Bromley B, Lieberman E, Laboda L, Benacerraf BR
Obstet Gynecol 1995 Dec;86(6):998-1001. doi: 10.1016/0029-7844(95)00323-j. PMID: 7501356

Prognosis

Shanks AL, Odibo AO, Gray DL
J Ultrasound Med 2009 Dec;28(12):1639-43. doi: 10.7863/jum.2009.28.12.1639. PMID: 19933476
Bethune M
Aust N Z J Obstet Gynaecol 2008 Apr;48(2):137-41. doi: 10.1111/j.1479-828X.2008.00826.x. PMID: 18366485
Winter TC, Anderson AM, Cheng EY, Komarniski CA, Souter VL, Uhrich SB, Nyberg DA
Radiology 2000 Aug;216(2):450-6. doi: 10.1148/radiology.216.2.r00au32450. PMID: 10924569
Bromley B, Lieberman E, Shipp TD, Richardson M, Benacerraf BR
J Ultrasound Med 1998 Feb;17(2):127-31. doi: 10.7863/jum.1998.17.2.127. PMID: 9527573
Bromley B, Lieberman E, Laboda L, Benacerraf BR
Obstet Gynecol 1995 Dec;86(6):998-1001. doi: 10.1016/0029-7844(95)00323-j. PMID: 7501356

Clinical prediction guides

Maya I, Kahana S, Yeshaya J, Tenne T, Yacobson S, Agmon-Fishman I, Cohen-Vig L, Levi A, Reinstein E, Basel-Vanagaite L, Sharony R
Ultrasound Obstet Gynecol 2017 Mar;49(3):337-341. doi: 10.1002/uog.15935. PMID: 27063194
Bethune M
Aust N Z J Obstet Gynaecol 2008 Apr;48(2):137-41. doi: 10.1111/j.1479-828X.2008.00826.x. PMID: 18366485
Anderson N, Jyoti R
Ultrasound Obstet Gynecol 2003 Apr;21(4):354-8. doi: 10.1002/uog.89. PMID: 12704743
Winter TC, Anderson AM, Cheng EY, Komarniski CA, Souter VL, Uhrich SB, Nyberg DA
Radiology 2000 Aug;216(2):450-6. doi: 10.1148/radiology.216.2.r00au32450. PMID: 10924569
Bromley B, Lieberman E, Laboda L, Benacerraf BR
Obstet Gynecol 1995 Dec;86(6):998-1001. doi: 10.1016/0029-7844(95)00323-j. PMID: 7501356

Recent systematic reviews

Kim U, Jung YM, Oh S, Bae JH, Lee J, Park CW, Park JS, Jun JK, Lee SM
J Korean Med Sci 2024 Mar 4;39(8):e70. doi: 10.3346/jkms.2024.39.e70. PMID: 38442716Free PMC Article

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