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Uhl anomaly

MedGen UID:
78576
•Concept ID:
C0265857
•
Congenital Abnormality
Synonyms: Parchment right ventricle; Uhl's anomaly
SNOMED CT: Uhl disease (2829000); Paper thin right ventricle (2829000); Right ventricular hypoplasia (2829000); Uhl's disease (2829000); Hypoplasia of right ventricle (2829000); Uhl's anomaly (2829000); Parchment right ventricle (2829000)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
HPO: HP:0011724
Monarch Initiative: MONDO:0018084
OMIM®: 107970
Orphanet: ORPHA3403

Definition

Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUhl anomaly
Follow this link to review classifications for Uhl anomaly in Orphanet.

Professional guidelines

PubMed

Prenatal diagnosis, 4D spatiotemporal image correlation imaging, pregnancy, and postnatal outcome of partial Uhl's anomaly.
Karmegaraj B
Eur Heart J Cardiovasc Imaging 2023 Aug 23;24(9):e273. doi: 10.1093/ehjci/jead133. PMID: 37282632
Uhl's anomaly: a difficult prenatal diagnosis.
Vaujois L, van Doesburg N, Raboisson MJ
Cardiol Young 2015 Mar;25(3):580-3. Epub 2014 May 1 doi: 10.1017/S1047951114000651. PMID: 24784726

Recent clinical studies

Etiology

A case of Uhl's anomaly presenting with ventricular tachycardia.
Rizk J, Shehu N, Wolf C, Meierhofer C
Eur Heart J Cardiovasc Imaging 2018 Nov 1;19(11):1312. doi: 10.1093/ehjci/jey122. PMID: 30165443
A case of prenatally diagnosed Uhl's anomaly.
Kim MJ, Bae JY, Seong WJ
Clin Exp Obstet Gynecol 2015;42(2):234-6. PMID: 26054127
Thiamine responsive megaloblastic anemia: the puzzling phenotype.
Beshlawi I, Al Zadjali S, Bashir W, Elshinawy M, Alrawas A, Wali Y
Pediatr Blood Cancer 2014 Mar;61(3):528-31. Epub 2013 Nov 19 doi: 10.1002/pbc.24849. PMID: 24249281
Single ventricle strategy for Uhl's anomaly of the right ventricle.
Hoschtitzky A, Rowlands H, Ilina M, Khambadkone S, Elliott MJ
Ann Thorac Surg 2010 Dec;90(6):2076-8. doi: 10.1016/j.athoracsur.2009.12.084. PMID: 21095379
Experience with one and a half ventricle repair.
Kreutzer C, Mayorquim RC, Kreutzer GO, Conejeros W, Roman MI, Vazquez H, Schlichter AJ, Kreutzer EA
J Thorac Cardiovasc Surg 1999 Apr;117(4):662-8. doi: 10.1016/S0022-5223(99)70285-0. PMID: 10096960

Diagnosis

Case 288: Uhl Anomaly.
Caruso S, Cannataci C, Romano G
Radiology 2021 Apr;299(1):237-241. doi: 10.1148/radiol.2021192475. PMID: 33750225
Epsilon waves: Milestones in the discovery and progress.
Li GL, Saguner AM, Fontaine GH, Frank R
Ann Noninvasive Electrocardiol 2018 Nov;23(6):e12571. Epub 2018 Jul 5 doi: 10.1111/anec.12571. PMID: 29978588Free PMC Article
Surgical Options for Uhl's Anomaly.
Kalita JP, Dutta N, Awasthy N, Chowdhuri KR, Girotra S, Radhakrishnan S, Srivastava S, Iyer PU, Iyer KS
World J Pediatr Congenit Heart Surg 2017 Jul;8(4):470-474. doi: 10.1177/2150135117710940. PMID: 28696874
Clinical presentation and echocardiographic characteristics of Uhl's anomaly.
Mihos CG, Larrauri-Reyes M, Yucel E, Santana O
Echocardiography 2017 Feb;34(2):299-302. Epub 2016 Dec 29 doi: 10.1111/echo.13430. PMID: 28032368
Uhl's anomaly: a difficult prenatal diagnosis.
Vaujois L, van Doesburg N, Raboisson MJ
Cardiol Young 2015 Mar;25(3):580-3. Epub 2014 May 1 doi: 10.1017/S1047951114000651. PMID: 24784726

Therapy

Long-term follow-up of a patient with Uhl anomaly after biologic and mechanical circulatory support.
Potapov EV, Saito T, Carpentier A, Hetzer R, Krabatsch T
J Thorac Cardiovasc Surg 2015 Jun;149(6):e115-6. Epub 2015 Feb 10 doi: 10.1016/j.jtcvs.2015.01.058. PMID: 25749142
Repairing the tricuspid valve in congenital heart diseases other than Ebstein's.
Dodge-Khatami A, Mavroudis CD, Frost J, Jacobs JP, Mavroudis C
Cardiol Young 2014 Dec;24(6):1077-87. doi: 10.1017/S104795111400198X. PMID: 25647382
Thiamine responsive megaloblastic anemia: the puzzling phenotype.
Beshlawi I, Al Zadjali S, Bashir W, Elshinawy M, Alrawas A, Wali Y
Pediatr Blood Cancer 2014 Mar;61(3):528-31. Epub 2013 Nov 19 doi: 10.1002/pbc.24849. PMID: 24249281

Prognosis

Combined Heart and Liver Transplantation for Uhl's Anomaly: A Case Report.
Landi F, Sandoval E, Martinez J, Blasi A, Arguis MJ, Colmenero J, Montserrat S, García-Álvarez A, Martinez D, Dos L, Riquelme F, Quintana E, Castellá M, Fondevila C
Transplant Proc 2021 Nov;53(9):2751-2753. Epub 2021 Sep 27 doi: 10.1016/j.transproceed.2021.08.036. PMID: 34593248
Uhl Anomaly in Asymptomatic Adult Woman.
Cammalleri V, Forcina M, Pugliese L, Romeo F, Floris R, Chiocchi M
Circ Cardiovasc Imaging 2019 Feb;12(2):e008277. doi: 10.1161/CIRCIMAGING.118.008277. PMID: 30700135
Uhl's anomaly: perspective of fetal echocardiography and histopathological correlation.
Dixon DB, Mackey-Bojack SM, Sivanandam S
Cardiol Young 2017 Mar;27(2):388-390. doi: 10.1017/S1047951116001232. PMID: 28366185
Unguarded tricuspid orifice---a rare cause of fetal right atrial dilatation with characteristic color doppler sign: Case report with review of literature.
Kumar Vikraman S, Chandra V, Balakrishnan B, Jaiman S, Batra M, Kannoly G
J Clin Ultrasound 2017 Jul 8;45(6):370-374. Epub 2016 Oct 18 doi: 10.1002/jcu.22416. PMID: 27753109
Experience with one and a half ventricle repair.
Kreutzer C, Mayorquim RC, Kreutzer GO, Conejeros W, Roman MI, Vazquez H, Schlichter AJ, Kreutzer EA
J Thorac Cardiovasc Surg 1999 Apr;117(4):662-8. doi: 10.1016/S0022-5223(99)70285-0. PMID: 10096960

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