Chapter IX./8.: Marfan syndrome
This chapter describes the underlying causes and the main symptoms
of Marfan syndrome, emphasizing the risk of fatal cardiovascular
complications. After reading this section the reader will be able to
recognize patients suffering from Marfan syndrome, and will be
familiar with treatment options and will recognize why internal
medicine checkups are absolutely necessary.
IX./8.1.: Definition
Marfan syndrome is a genetic disorder of the connective tissue presenting
with typical skeletal, cardiovascular and ophthalmic manifestations. Due to
the „overgrowth” of the proliferating zone the bones are symmetrically longer
than average.
Figure 1. Overgrowth is characteristically conspicuous on the hands: patients have very long
thin fingers (arachnodactyly).
IX./8.2.: Incidence, inheritance
Incidence of this disease is 1:10.000, inheritance is autosomal dominant.
IX./8.3.: Etiology
In a 90% of the cases the underlying cause of irregular connective tissue in
patients suffering from Marfan syndrome is the mutation of FBN-1 gene,
which is responsible for regulating the production of the fibrillin-1 protein
and in 10% of the cases the genetic mutation affects the β receptor of the
transforming growth factor. Abnormal connective tissue structure leads two
increased multiplication of the cells in the proliferating zone of the bone,
resulting in overgrowth.
IX./8.4.: Clinical presentation, symptoms
Symptoms of Marfan-syndrome may present at different ages with varied
severity.
Figure 2. : Because of the
Figure 3. Patients joints are lax in general, the image shows
overgrowth patients are usually
how to examine laxity on the hand.
tall and slender with extremely
long limbs. Image shows siblings
suffering from Marfan syndrome.
Musculature is atrophic, scoliosis, kyphosis, pectus excavatum or carinatum
due to the overgrowth of the ribs is common. The acetabulum may be
protruded. Ophthalmic lesions are myopy, ectopic or absent lens, early onset
cataracts and glaucoma. Cardiovascular abnormalities such as mitral prolapse,
aorta insufficiency, aorta dilatation and aorta dissection, which may lead to
sudden death are characteristic.
IX./5.: Radiology
The following skeletal anomalies and maybe seen on conventional
radiographs: scoliosis, kyphosis, protrusion of the acetabulum and other
deformities as well.
Figure 4.: Scoliosis seen on the spinal X-ray of the grill suffering from a Marfan syndrome.
Cardiovascular abnormalities are diagnosed and monitored with ultrasound,
CT and MRI.
IX./6.: Treatment
Patients suffering from Marfan syndrome must be monitored regularly. Increased
stress, competitive sports should be avoided due to cardiovascular risks and laxity
of the joints. Cardiological checkup should be for performed every six months in
childhood and annually in adults (echocardiography), to assess the state of the
aorta. Beta-blockers and ACE-inhibitors may prevent aorta dilation. Treatment
protocol of scoliosis and chest deformities concurs with that of idiopathic scoliosis
and chest deformities.