Case of the Week # 237

Nickolay Petrovich Veropotvelyan, MD; Tamo Raad, MD; Andrii Kurkevych, MD; Oleksandr Romanyuk, MD

February 5, 2009 - February 19, 2009

Nickolay Petrovich Veropotvelyan, MD*; Tamo Raad, MD**; Andrii Kurkevych, MD**; Oleksandr Romanyuk, MD**.

* Multiregional Medical Genetic and Prenatal Diagnostic Center, Kryvyj Rig, Ukraine;
** Ukrainian Children’s Cardiac Center, Kyiv, Ukraine.

Case report

A 32-year-old (G2P1) woman, from a non-consanguineous couple and with a non-contributive history, presented to our department at 21 weeks of her pregnancy. Our ultrasound discovered increased nuchal fold thickness and brachycephaly of the fetus. Additionally a vessel abnormality was found which was falsely considered to be a double aortic arch. The findings led us to a suspicion of Down syndrome and karyotyping was done immediately, revealing a normal karyotype (46, XY). The neonate was born at term and its postnatal adaptation was normal. One month later the baby developed episodic choking and vomitus during feeding, and a CT scan of the baby was performed revealing the final diagnosis. What kind of anomaly it was?

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Case report

A 32-year-old (G2P1) woman, from a non consanguineous couple and with a non contributive history, presented to our department at 21 weeks of her pregnancy. Our ultrasound discovered increased nuchal fold thickness and brachycephaly of the fetus. Additionally an abnormal vessel making a vascular ring at the level of the three-vessel-trachea view of the heart was found. The additional vessel was considered to be an aberrant right subclavian artery. The findings led us to a suspicion of Down syndrome and karyotyping was done immediately, revealing normal karyotype (46, XY). The normal karyotype and another finding observed at the level of the aortic arch, so called “lambda sign”, had changed our differential diagnostic considerations, and we started to think about a double aortic arch standing behind the finding of the vascular ring.

The neonate was born at term and its postnatal adaptation was normal. Early postnatal sonography found just persistent communication at the level of the foramen ovale, patent ductus arteriosus and dilated right ventricle.

One month later the baby developed episodic choking and vomitus during feeding, and so a CT scan and echocardiography were performed. The echocardiography revealed coarctation of the aorta, which was confirmed by the CT. Additionally the CT clearly revealed the aberrant right subclavian artery of the neonate. Cardio-surgical treatment of the aortic coarctation was done in the age of seven months.

The baby has been followed up for 14 months now, its clinical status is good, and hasn’t required any other intervention so far.

Images 1, 2: The images show increased nuchal fold thickness of the fetus.

Images 3, 4: The images show normal roots of the aorta (Image 3) and pulmonary artery (Image 4).

Images 5, 6: The images show power Doppler scans at the level of the three-vessel view demonstrating a vascular ring with the right aortic arch.

Image 7: The image shows an unusual appearance of the three-vessel view of the heart, which was falsely considered to be the "lambda sign" (division of the aorta into two arches, indicating the double aortic arch).

Images 8 - 17: Postnatal CT scans explaining the clinical symptoms and prenatal sonographic findings. The aberrant right subclavian artery (ARSA) arises separately from the aortic arch just below the aortic coarctation.