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Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus.
- Source :
-
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2014 Apr; Vol. 43 (4), pp. 475-6. Date of Electronic Publication: 2014 Mar 03. - Publication Year :
- 2014
-
Abstract
- Two cases of ultrasound diagnosis of Holt-Oram syndrome are described. Both were characterized by significant right atrial enlargement that was not due to concurrent tricuspid regurgitation or other cardiac anomalies. In both cases the associated skeletal anomaly was subtle and barely visible using ultrasound. Interestingly, despite the fact that Holt-Oram syndrome is also called atriodigital dysplasia, unexplained right atrial enlargement has not been described in this context in the fetus before. When such a finding is detected, we believe a thorough search for upper limb abnormalities should be carried out and genetic testing for Holt-Oram syndrome should be discussed with the parents.<br /> (Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.)
- Subjects :
- Abortion, Induced
Female
Fetus
Genetic Counseling
Heart Defects, Congenital diagnostic imaging
Heart Defects, Congenital embryology
Heart Defects, Congenital genetics
Humans
Infant, Newborn
Male
Pregnancy
Pregnancy Outcome
Prenatal Diagnosis
Ultrasonography
Upper Extremity Deformities, Congenital diagnostic imaging
Upper Extremity Deformities, Congenital embryology
Upper Extremity Deformities, Congenital genetics
Abnormalities, Multiple diagnosis
Cardiomegaly genetics
Heart Atria pathology
Heart Defects, Congenital diagnosis
Heart Septal Defects, Atrial diagnosis
Lower Extremity Deformities, Congenital diagnosis
Upper Extremity Deformities, Congenital diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1469-0705
- Volume :
- 43
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
- Publication Type :
- Academic Journal
- Accession number :
- 24185902
- Full Text :
- https://doi.org/10.1002/uog.13238