Perinatology.
2021 Sep;32(3):151-155. 10.14734/PN.2021.32.3.151.
Prenatal Diagnosis of an Ascending Aortic Aneurysm Inherited from the Father: A Case Report of Loeys-Dietz Syndrome Type 1
- Affiliations
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- 1Department of Obstetrics and Gynecology, Jeonbuk National University Medical School, Jeonju, Korea
- 2Research Institute of Clinical Medicine, Jeonbuk National University Medical School, Jeonju, Korea
- 3Department of Pediatrics, Jeonbuk National University Medical School, Jeonju, Korea
- KMID: 2522533
- DOI: http://doi.org/10.14734/PN.2021.32.3.151
Abstract
- Inherited aortic aneurysms are very rare during fetal life. If an aortic aneurysm is seen on prenatal ultrasound, the differential diagnosis of hereditable connective tissue disorders, such as Loeys-Dietz syndrome, Marfan syndrome, and vascular Ehlers-Danlos syndrome should be considered. Recently, we experienced a case of an ascending aortic aneurysm on prenatal ultrasound which was diagnosed as Loeys-Dietz syndrome type 1 by next generation sequencing. Herein, we present the prenatal and postnatal images including ultrasound scan, computed tomography angiography, and magnetic resonance angiography, and discuss the differential diagnoses of the above-mentioned hereditary connective tissue disorders.
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