Cantu syndrome: A longitudinal review of vascular findings in three individuals

Am J Med Genet A. 2020 May;182(5):1243-1248. doi: 10.1002/ajmg.a.61521. Epub 2020 Feb 17.


Cantu syndrome is a rare autosomal dominant disorder caused by missense variants in ABCC9 and KCNJ8. It is characterized by hypertrichosis, neonatal macrosomia, coarse facial features, and skeletal anomalies. Reported cardiovascular anomalies include cardiomegaly, structural defects, collateral vessels, and rare report of arteriovenous malformation (AVM). Arterial dilation is reported in a few individuals including one with surgical intervention for a thoracic aortic aneurysm. The natural history of this aortopathy including the rate of progression or risk for dissection is unknown and longitudinal patient data is unavailable. We present data from vascular imaging in three individuals with genetically confirmed Cantu syndrome over 3 to 14 years of follow-up. All patients had generally stable aortic dilation, which did not reach the surgical threshold, including one individual followed closely through pregnancy. In adulthood, one individual had a maximum ascending aortic measurement of 4.2 cm. Two pediatric patients had aortic root or ascending z-scores of approximately +3. A large asymptomatic pelvic AVM was identified in one individual on head-pelvis MRI. While the data reported in these individuals is reassuring regarding the risk for progressive disease, further data from additional individuals with Cantu syndrome is needed to best inform screening recommendations, improve understanding of dissection risk, and guide management.

Keywords: Cantu; aneurysm; aortic dilation; arteriovenous malformation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aortic Aneurysm, Thoracic / diagnostic imaging
  • Aortic Aneurysm, Thoracic / genetics*
  • Aortic Aneurysm, Thoracic / physiopathology
  • Cardiomegaly / diagnostic imaging
  • Cardiomegaly / genetics*
  • Cardiomegaly / physiopathology
  • Child
  • Child, Preschool
  • Facies
  • Female
  • Genetic Diseases, X-Linked / diagnostic imaging
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / physiopathology
  • Humans
  • Hypertrichosis / diagnostic imaging
  • Hypertrichosis / genetics*
  • Hypertrichosis / physiopathology
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense / genetics
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / physiopathology
  • Pregnancy

Supplementary concepts

  • Cantu syndrome