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Congenital hypertrophy of left ventricle

MedGen UID:
341003
Concept ID:
C1855901
Congenital Abnormality; Finding
HPO: HP:0005129

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital hypertrophy of left ventricle

Conditions with this feature

Hypertrichotic osteochondrodysplasia Cantu type
MedGen UID:
208647
Concept ID:
C0795905
Disease or Syndrome
Cantú syndrome is characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with full lips and macroglossia); enlarged heart with enhanced systolic function or pericardial effusion and in many, a large patent ductus arteriosus (PDA) requiring repair; and skeletal abnormalities (thickening of the calvaria, broad ribs, scoliosis, and flaring of the metaphyses). Other cardiovascular abnormalities may include dilated aortic root and ascending aorta with rare aortic aneurysm, tortuous vascularity involving brain and retinal vasculature, and pulmonary arteriovenous communications. Generalized edema (which may be present at birth) spontaneously resolves; peripheral edema of the lower extremities (and sometimes arms and hands) may develop at adolescence. Developmental delays are common, but intellect is typically normal; behavioral problems can include attention-deficit/hyperactivity disorder, autism spectrum disorder, obsessive-compulsive disorder, anxiety, and depression.

Professional guidelines

PubMed

Yamano M, Yamano T, Matoba S
J Med Ultrason (2001) 2024 Apr;51(2):275-282. Epub 2024 Jan 16 doi: 10.1007/s10396-023-01399-4. PMID: 38228943
Weber EC, Recker F, Herberg U, Oberhoffer R, Kurkevych A, Axt-Fliedner R, Geipel A, Gembruch U, Berg C, Gottschalk I
Ultraschall Med 2023 Aug;44(4):e184-e190. Epub 2022 May 5 doi: 10.1055/a-1823-0821. PMID: 35512837
Haller C, Friedberg MK, Laflamme MA
Stem Cell Res Ther 2020 Nov 25;11(1):502. doi: 10.1186/s13287-020-02022-w. PMID: 33239066Free PMC Article

Recent clinical studies

Etiology

Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Woudstra OI, Ahuja S, Bokma JP, Bouma BJ, Mulder BJM, Christoffels VM
Cardiovasc Res 2017 Oct 1;113(12):1509-1520. doi: 10.1093/cvr/cvx155. PMID: 28957538
Towbin JA, Lorts A, Jefferies JL
Lancet 2015 Aug 22;386(9995):813-25. Epub 2015 Apr 9 doi: 10.1016/S0140-6736(14)61282-4. PMID: 25865865
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Singh GK
Indian J Pediatr 2002 Apr;69(4):351-8. doi: 10.1007/BF02723222. PMID: 12019557

Diagnosis

Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Towbin JA, Lorts A, Jefferies JL
Lancet 2015 Aug 22;386(9995):813-25. Epub 2015 Apr 9 doi: 10.1016/S0140-6736(14)61282-4. PMID: 25865865
Anderson RH, Mohun TJ, Moorman AF
Cardiol Young 2011 Dec;21 Suppl 2:14-22. doi: 10.1017/S1047951111001387. PMID: 22152524
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Singh GK
Indian J Pediatr 2002 Apr;69(4):351-8. doi: 10.1007/BF02723222. PMID: 12019557

Therapy

Greco ER, Engineer A, Saiyin T, Lu X, Zhang M, Jones DL, Feng Q
J Cell Mol Med 2022 Jun;26(11):3223-3234. Epub 2022 May 6 doi: 10.1111/jcmm.17328. PMID: 35521669Free PMC Article
Amr NH, Mahmoud RAA, Youssef O, Toaima NN, Elsedfy H
Clin Endocrinol (Oxf) 2021 Feb;94(2):210-218. Epub 2020 Dec 21 doi: 10.1111/cen.14333. PMID: 32946608
Towbin JA, Lorts A, Jefferies JL
Lancet 2015 Aug 22;386(9995):813-25. Epub 2015 Apr 9 doi: 10.1016/S0140-6736(14)61282-4. PMID: 25865865
Mangold S, Kramer U, Franzen E, Erz G, Bretschneider C, Seeger A, Claussen CD, Niess AM, Burgstahler C
Rofo 2013 Dec;185(12):1167-74. Epub 2013 Jul 29 doi: 10.1055/s-0033-1350130. PMID: 23897528
Aronow WS
Herz 1991 Dec;16(6):395-404. PMID: 1765343

Prognosis

Yamano M, Yamano T, Matoba S
J Med Ultrason (2001) 2024 Apr;51(2):275-282. Epub 2024 Jan 16 doi: 10.1007/s10396-023-01399-4. PMID: 38228943
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Loukas M, Housman B, Blaak C, Kralovic S, Tubbs RS, Anderson RH
Cardiovasc Pathol 2013 Nov-Dec;22(6):417-23. Epub 2013 May 20 doi: 10.1016/j.carpath.2013.03.004. PMID: 23701985
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Singh GK
Indian J Pediatr 2002 Apr;69(4):351-8. doi: 10.1007/BF02723222. PMID: 12019557

Clinical prediction guides

Yamano M, Yamano T, Matoba S
J Med Ultrason (2001) 2024 Apr;51(2):275-282. Epub 2024 Jan 16 doi: 10.1007/s10396-023-01399-4. PMID: 38228943
Dobrowolski P, Januszewicz A, Klisiewicz A, Gosk-Przybyłek M, Pęczkowska M, Kabat M, Kwapiszewska A, Warchoł-Celińska E, Ambroziak U, Doroszko A, Toutounchi S, Gałązka Z, Bednarczuk T, Górnicka B, Januszewicz M, Hoffman P, Lenders JWM, Eisenhofer G, Prejbisz A
JACC Cardiovasc Imaging 2020 Dec;13(12):2498-2509. Epub 2020 Sep 16 doi: 10.1016/j.jcmg.2020.07.017. PMID: 32950457
Arbustini E, Favalli V, Narula N, Serio A, Grasso M
J Am Coll Cardiol 2016 Aug 30;68(9):949-66. doi: 10.1016/j.jacc.2016.05.096. PMID: 27561770
Anderson RH, Spicer DE, Giroud JM, Mohun TJ
Cardiol Young 2013 Dec;23(6):858-66. doi: 10.1017/S1047951113001686. PMID: 24401259
Loukas M, Housman B, Blaak C, Kralovic S, Tubbs RS, Anderson RH
Cardiovasc Pathol 2013 Nov-Dec;22(6):417-23. Epub 2013 May 20 doi: 10.1016/j.carpath.2013.03.004. PMID: 23701985

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