IS Case 356: Marfan syndrome with aortic dissection

Wade Hedegard, MD

2009 URMC Imaging Sciences
Publication Date: 2010-03-01

History

Patient is a 24-year-old male presenting with syncope and chest and neck pain.

Findings

Chest radiograph shows a tall, slender male with an enlarged aortic and cardiac silhouette. Contrast-enhanced CT demonstrates dissection of the ascending and descending thoracic aorta and evidence of prior aortic valve replacement.

Diagnosis

Marfan syndrome with aortic dissection

Discussion

Marfan syndrome is an inherited autosomal dominant connective tissue disorder. Marfan syndrome is caused by an abnormal fibrillin-1 gene. This leads to production of abnormal fibrillin glycoprotein, which serve as a key substrate for elastin in the aorta and in other connective tissues. Marfan syndrome is one of the most common single gene malformation syndromes in the world. It affects about 1 in 5,000 to 10,000 people leading to at least 200,000 people in the United States with Marfan syndrome or a related connective-tissue disorder.

Clinical features of Marfan's include tall stature, pectus excavatum and carinatum, arachnodactyly, acetabular protrusio, ectopia lentis, dural ectasia, scoliosis, pulmonary apical blebs and many cardiovascular manifestations.

Cardiovascular involvement is the most serious problem associated with Marfan syndrome. Significant cardiac complications include mitral valve prolapse, annuloaortic ectasia and dilatation with or without aortic valve insufficiency, aortic aneurysm, pulmonary artery dilatation, and aortic dissection. Aortic root dilatation occurs in 70-80% of Marfan patients and manifests at an early age.

Medical treatment of Marfan syndrome includes the use of beta blockers to delay aortic expansion and dissection.

The primary treatment remains surgical replacement of the aortic root with a modified Bentall procedure and placement of a composite valve-graft replacement. The ascending aorta is usually replaced when the aorta exceeds 55-60 mm in diameter.

References

  1. Ha HI, Seo JB, Lee SH, Kang JW, Goo HW, Lim TH, Shin MJ. Imaging of Marfan syndrome: multisystemic manifestations. Radiographics. 2007 Jul-Aug;27(4):989-1004. PMID: 17620463
  2. Fisher ER, Stern EJ, Godwin JD 2nd, Otto CM, Johnson JA. Acute aortic dissection: typical and atypical imaging features. Radiographics. 1994 Nov;14(6):1263-71; discussion 1271-4. PMID: 7855340

3 images