MARFAN SYNDROME: CT FINDINGS
H. RIAHI, M. BEN MESSAOUD, O. AZAIZ, A. AKROUT, B. SOUISSI, R.
ALLANI, I. TURKI, E. MENIF
Radiology service, La Rabta Hospital, Tunis, Tunisie
CR 9
INTRODUCTION

Marfan syndrome is a multisystemic connective
tissue disorder that affects both sexes equally and
is characterized by skeletal, cardiovascular, and
ocular abnormalities.

Its prevalence has been estimated at two to three
persons per .10,000
INTRODUCTION

It is an autosomal dominant transmitted disorder
(75% –70%of cases) but is also associated with
sporadic mutations.

The diagnostic process to identify patients with
MFS is challenging because it is based on the
Ghent criteria, which requires the assessment of a
number of clinical, genetic, and radiologic
features .
OBJECTIVES
The aim of this work is to illustrate CT findings in
Marfan syndrome revealed by acute chest pain.
MATERIEL AND PATIENTS

We report the case of 2 patients aged 28 and 32
who were seen in the emergency department with
acute chest pain. They underwent contrast
enhanced CT.
Case 1

28years old woman.

Admitted for acute-onset tearing
central chest pain that radiates to the
back .

CT angiography showed:

Stanford type A dissection involving
the ascending thoracic and the
descending aorta

Brachiocephalic artery dissection

Right renal artery supplied by the false
lumen with acute renal infarction
a dissection flap in the right brachiocephalic artery
Descending
aorta
dissection

Ct also revealed
•
A severe
scoliosis .
•
A chest wall
deformity
Case 2

A 32 years old man

Complaining of central chest pain and intermittent episodes
of excruciating back pain confined to the sacral area .

CT showed an annulo aortic ectasia with aortic aneurysms.

It also showed

a dural ectasia

scoliosis
DISCUSSION

Marfan syndrome may affect various systems, including the
cardiovascular, musculoskeletal, central nervous, pulmonary,
ocular, and integumentary systems .

Diagnosis is based on the revised 1996 Ghent criteria, which
include cardiovascular, ocular, and pulmonary abnormalities.

The presence of either two major features and one minor
feature or one major feature and four minor features supports
a diagnosis of Marfan syndrome.
Cardiovascular Manifestations
Cardiovascular major criteria include
•
dilatation of the ascending aorta (involving at least the sinuses
of Valsalva)
•
with or without aortic regurgitation ,
•
as well as dissection of the descending aorta.

Minor criteria consist of
•
dilatation or dissection of the descending or abdominal aorta
before the age of 50 years,
•
dilatation of the main pulmonary artery before the age of 40
years,
•
mitral valve prolapse, and calcification of the mitral annulus
before the age of 40 years
Cardiovascular Manifestations
1. Annuloaortic Ectasia and Aortic Aneurysm:

Annuloaortic ectasia, especially with dilatation of the
aortic root, is found in 80% –60%of adults with Marfan
syndrome.

In annuloaortic ectasia, severe aortic regurgitation
occurs that may progress to aortic root dissection or
rupture
Cardiovascular Manifestations
•
Aortic aneurysm without annuloaortic ectasia also is
common .
•
Compared with atherosclerotic aneurysms, it occur in
younger patients and enlarge more rapidly.
•
The diameters of the dilated ascending aorta, sinotubular
junction, and aortic root are clearly demonstrated on
multiplanar CT images obtained with three-dimensional
reconstruction techniques.
Cardiovascular Manifestations
. 2Aortic Dissection
• Dissection develops more often in young patients with
Marfan syndrome than it does in the general population.
• Multidetector CT is the radiologic modality most frequently
used for diagnosis of aortic dissection .
• It clearly demonstrates the extent of dissection, the
relationship of the true lumen and false lumen, and any
involvement of major aortic branch vessels.
Cardiovascular Manifestations
.3Pulmonary Artery Dilatation
• Dilatation of the main pulmonary artery is one of the
established criteria for the diagnosis of Marfan syndrome.
Like dilatation of the ascending aorta, it occurs
predominantly in the root.
• The upper limits of a normal main pulmonary artery
diameter at the root and at the level of bifurcation, were
34.8 mm and 28.0 mm, respectively
Musculoskeletal Manifestations
1. Scoliosis
•
Scoliosis is a frequent and potentially severe manifestation
of Marfan syndrome. It occurs in approximately 62% of
patients.
•
Scoliosis in Marfan syndrome is more severe, rigid, and
progressive, requiring surgical correction.
•
When it occurs in combination with straight back syndrome,
kyphosis, or a chest wall deformity, it may contribute to
cardiopulmonary compromise and restriction of lung volume
Musculoskeletal Manifestations
•
Measurement of the severity of a scoliotic curve has
practical applications and the Lippman-Cobb method is
widely used to measure the degree of scoliotic curvature.
•
CT and MR imaging are helpful to evaluate the bone
structure, associated abnormalities of the spinal cord, and
the nerve roots before treatment planning.
Musculoskeletal Manifestations
.2Chest Wall Deformity
• Approximately 66% of patients with
Marfan syndrome have either pectus
excavatum or pectus carinatum
produced by longitudinal overgrowth
of the ribs.
• The severity of pectus excavatum is
determined according to the pectus
index calculated on the basis of
measurements on CT images.
Musculoskeletal Manifestations
.3Acetabular
Protrusion
• Acetabular protrusion is a deformity of the hip joint and
is distinguished by the invasion of the acetabulum and
femoral head into the pelvic cavity.
• Radiographic findings, including an increased centeredge angle of Wiberg and an obscured teardrop sign,
allow the diagnosis.
Dural Ectasia and Associated Central Nervous System
Manifestations
•
Dural ectasia, which has been observed in 65% –56%of
patients with Marfan syndrome, is a ballooning or
significant widening of the dural sac or neural root
sleeves.
•
It is sometimes accompanied by bone erosion,
meningoceles, and arachnoid cysts.
• Most occurrences of dural ectasia in Marfan syndrome
affect the lumbosacral spine.
• Dural ectasia is depicted on radiographs as a widening of
the interpediculate distance.
• Vertebral body scalloping occurs with a high prevalence
in transition vertebrae.
 MR imaging and CT are the reference standards for
diagnosis of dural ectasia.
 Dural ectasia appears as widening of the dural sac,
dilatation of the nerve root sleeve, and scalloping of
vertebral bodies in the lumbosacral spine on MR and CT
images.
 In addition, MR and CT images may demonstrate an
accompanying meningocele or arachnoid cyst
Pulmonary Manifestations

The lungs are rarely involved in Marfan syndrome.

various pulmonary manifestations have been described,
including

interstitial parenchymal disease and

honeycombing,

diffuse and apical bullous emphysema

,congenital malformation of the bronchus,

bronchiectasis, and spontaneous pneumothorax.
CONCLUSION

With the increasing availability of whole-body imaging with
multidetector CT or MR imaging, the role of the radiologist
has expanded beyond the simple achievement of a
diagnosis of Marfan syndrom to include the comprehensive
identification of its various systemic manifestations.

In patient without a family history of Marfan syndrome,
computed tomography can play an impotant role in
diagnosis by identifying one of major cardiovascular criteria
or dural ectasia