Patient Presentation
A 9-month-old female came to clinic for her health maintenance examination. The father had no concerns but wanted the pediatrician to know that the mother had recently been diagnosed with some kind of aorta problem after her brother had been diagnosed with a similar problem. He didn’t know more details as both of them were currently being evaluated. “My brother-in-law had some chest pain and it turned out that wasn’t a problem, but in the emergency room they found this aorta problem,” the father offered. The past medical history was non-contributory. The family history was positive for heart disease, diabetes, and stroke.

The pertinent physical exam showed a healthy female with normal growth parameters and vital signs. Her examination was normal.

The diagnosis of a healthy female was made. “I don’t know a lot about aorta problems as they don’t occur much in pediatrics. The cardiologists and other specialists usually take care of those patients. But once we have a better idea about your wife and her brother and what is occurring in them, then we can decide what to do about your daughter and if we need to do anything,” the pediatrician counseled.

Discussion
Aortic root dilatation or thoracic aortic aneurysm occurs in 6:100,000 individuals > 50 years of age. It is due to aging, hypertension, hypercholesterolemia, and smoking. Tertiary syphilis was a cause in the preantibiotic era.
Pediatric aneurysms are very uncommon but the exact prevalence is different due to the various causes. Aneurysms are due to genetic disorders, congenital anomalies or post-surgical repair. In pediatric patients with sudden cardiac deaths, 5.4% are due to ruptured thoracic aortic aneurysms.

Learning Point
Some causes of pediatric aneurysms include:

• Familial thoracic aneurysm and dissection
  • Autosomal dominant with variable penetrance?
  • This is a group of various related diseases and overall is probably the most common cause of pediatric aneurysms
  • Many (~20%) patients with aortic dissection also have a first-degree relative without a known syndrome
  • Common problems:
    • Various problems depending on the individual
    • Aortic root problems are common
• Ehler-Danlos syndrome (vascular, vEDS)
  • Autosomal dominant, 1:250,000 prevalence
  • Type 3 procollagen COL3A1 gene mutation
  • Common problems:
    • Thin skin with visible veins, facial features with thin nose and lips, prominent ears, tight skin on face
    • Spontaneous rupture of vessels and organs which can occur without dilatation
• Loeys-Dietz syndrome
  • Transforming growth factor genes
  • Common problems:
    • Facial dysmorphisms with cleft palate, hypertelorism, craniosynostosis
    • Translucent skin, joint laxity
    • Rupture of vessels and organs, aortic root aneurysms are common
• Marfan syndrome
  • Autosomal dominant, 4-6:100,000 prevalence
  • Fibrillin-1 gene mutation
  • Common problems:
    • Aortic root dilatation and dissection, rupture
    • Mitral valve prolapse
• Turner syndrome
  • 1:2000-5000 women prevalence
  • Chromosome X monosomy
  • Common problems:
    • Web neck, short stature, lymphedema
    • Bicuspid aortic valve, partial anomalous pulmonary venous return
    • Aortic dissection
• Other causes
  • Alagille syndrome
  • Arterial tortuosity syndrome
  • Congenital heart disease especially Coarctation of the Aorta, Tetrology of Fallot
  • Cutis laxa
  • Kawasaki disease, atypical
  • PHACE association
  • Polycystic kidney disease, autosomal dominant
  • Spritzen-Goldberg syndrome

Questions for Further Discussion
1. How common is coarctation of the aorta? A review can be found here

2. How are genetic disorders classified? A review can be found here
3. What are indications for a cardiology consultation?

Related Cases

Disease: Aortic Aneurysm | Aneurysms

Symptom/Presentation: Health Maintenance and Disease Prevention

Specialty: Cardiology / Cardiovascular-Thoracic Surgery | Genetics

Age: Infant

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Aortic Aneurysm and Aneurysms.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Halushka MK. Single gene disorders of the aortic wall. Cardiovasc Pathol. 2012;21(4):240-244. doi:10.1016/j.carpath.2011.09.004

Elefteriades JA, Pomianowski P. Practical genetics of thoracic aortic aneurysm. Prog Cardiovasc Dis. 2013;56(1):57-67. doi:10.1016/j.pcad.2013.06.002

Deshpande S, Alazraki A, Khoshnam N, et al. Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature. Cardiovasc Pathol. 2017;31:34-40. doi:10.1016/j.carpath.2017.07.005

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

Date </