Advertisement

Isolated abdominal aortic tortuosity diagnosed by fetal echocardiography

  • Hirotaka Ishido
  • Kazunori Baba
  • Saki Maeda
  • Hiromi Doi
  • Yoichi Iwamoto
  • Hideaki Senzaki
  • Satoshi MasutaniEmail author
Case image in cardiovascular ultrasound
  • 18 Downloads

Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective-tissue disorder associated with elongation, tortuosity, stenosis, and aneurysms of the large and mid-sized arteries [1]. The symptoms of ATS, such as severe neonatal hypertension [2], can be potentially critical, and close monitoring and extensive vascular imaging are warranted [3]. Although fetal diagnosis of ATS [4] is clinically relevant, it has been rarely reported. We report a case of isolated abdominal aortic tortuosity (iAAT), similar to AAT in ATS, diagnosed by fetal echocardiography.

A 36-year-old, 1 gravida 0 para woman with unremarkable medical and family histories was referred to our center at 28 weeks 3 days of gestation for a detailed evaluation for AAT. Fetal ultrasonography revealed normal growth and no other cardiovascular abnormalities. Longitudinal views of two-dimensional fetal echocardiograms revealed a gap between the parallel paths of the thoracic and abdominal aorta (Fig.  1A-1, A-2,...

Notes

Acknowledgements

The authors thank Dr. Hiroko Morisaki and the Kazusa DNA Research Institute for their assistance with the genetic testing.

Compliance with ethical standards

Conflict of interest and source of funding

Hirotaka Ishido, Kazunori Baba, Saki Maeda, Hiromi Doi, and Yoichi Iwamoto declare that they have no conflict of interest or funding-related information. Hideaki Senzaki has received a honorarium from Abbie and research grant from Japan Blood Products Organization, Chugai, Pfizer, Mitsubishi Tanabe Pharma Corporation, MSD, GlaxoSmithKline, and Maruho. Satoshi Masutani has received a honorarium from Hitachi, Japan Blood Products Organization, Abbie, Bayer Yakuhin, Actelion Pharmaceuticals Japan, and Nippon Shinyaku and research grant from Actelion Pharmaceuticals Japan, Nippon Shinyaku, and TEIJIN.

Human rights statements and informed consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1964 and later revisions.

Informed consent

Informed consent was obtained from the parents of the patient for being included in the study.

Supplementary material

Animation 1A and 1B correspond to the figure 1A and 1B, respectively. (AVI 2870 kb)

Supplementary material 2 (AVI 1886 kb)

References

  1. 1.
    Ekici F, Ucar T, Fitoz S, et al. Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature. Turk J Pediatr. 2011;53:104–7.Google Scholar
  2. 2.
    de Marcellus C, Baudouin V, Tanase A, et al. Severe neonatal hypertension revealing arterial tortuosity syndrome. Kidney Int. 2018;93:526.CrossRefGoogle Scholar
  3. 3.
    Beyens A, Albuisson J, Boel A, et al. Arterial tortuosity syndrome: 40 new families and literature review. Genet Med. 2018;20:1236–45.CrossRefGoogle Scholar
  4. 4.
    Aslan H, Gungorduk K, Yildirim G, et al. Prenatal diagnosis of arterial tortuosity syndrome. Ultrasound Obstet Gynecol. 2008;32:714–5.CrossRefGoogle Scholar

Copyright information

© Japanese Society of Echocardiography 2019

Authors and Affiliations

  1. 1.Department of Pediatrics and Pediatric CardiologySaitama Medical Center, Saitama Medical UniversitySaitamaJapan
  2. 2.Department of Obstetrics and GynecologySaitama Medical Center, Saitama Medical UniversitySaitamaJapan
  3. 3.Clinical LaboratoryKeiai HospitalSaitamaJapan
  4. 4.Department of Obstetrics and GynecologyKeiai HospitalSaitamaJapan
  5. 5.Pediatrics, School of MedicineKitazato UniversityKanagawaJapan

Personalised recommendations