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Definitions of terms associated with Marfan Syndrome
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Acetabular Protusion (Protrusio
acetabulae) |
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condition where the head of the femur sits too deep in the
pelvic socket, even pushing through the bone in serious
cases. |
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Amblyopia |
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"lazy eye", where the brain ignores the eye with poor
vision. |
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Aneurysm |
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(aortic dilation or dilatation) balloon that forms in an
artery due to pressure of blood against a weak artery
wall. |
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Aorta |
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large artery, through which the blood is pumped from the
heart. |
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Aortic arch |
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section of the aorta between the ascending aorta and the
descending aorta. Arteries to the arms and head branch off
here |
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Aortic root |
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section of the aorta where it leaves the heart, including
the sinuses of Valsalva just behind the aortic valve |
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Aortic valve |
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tricuspid (3 leaves) valve between the heart and aorta. In
Marfan Syndrome, this valve can be bicuspid (have only 2
leaves). |
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Apical bullae |
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cyst-like swellings of the air sacs in the upper part of
the lung, which are a result of loss of elasticity |
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Ascending aorta |
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section of the aorta (including root) where it rises up
out of the heart, before turning downwards (descending aorta)
at the aortic arch. |
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Attention Deficit Disorder |
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disorder in which the attention span is very short,
sometimes associated with Hyperactivity. |
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Autosomal dominant |
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genetic disorder in which every child of a sufferer has a
50% chance of inheriting the disorder |
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Beta-blocker |
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drug (e.g. Tenormin/atenolol) that keeps the blood
pressure low as well as helping to stop palpitations. People
who suffer from asthma cannot take beta-blockers, but can use
calcium channel blockers. |
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Calcium channel blocker |
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drug that can be used instead of a beta-blocker to keep
blood pressure low and prevent palpitations |
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Cataract |
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(presenile) very early development of clouding of the
lenses in the eyes, e.g. as in Marfan Syndrome. |
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Composite graft |
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replacement of the aortic valve and ascending aorta in an
operation. |
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Connective tissue |
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tissue found throughout the body that ensures that organs
keep their correct size, shape and strength. The main types
are collagen (for strength, form and stability) and elastin
(for elasticity and firmness). |
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Cornea |
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clear "window" in the front of the eye, for protection and
to assist with focusing. |
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Descending aorta |
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the section of the aorta that takes the blood downwards
from the aortic arch to the legs. Branches throughout its
length take blood to the organs, spine, etc. |
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Diagnosis |
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variability (even in one family) makes the disorder very
difficult to diagnose. The 1996 Ghent nosology defines major
and minor criterion symptoms. Positive diagnosis depends on
major criterion symptoms in two organ systems and a third
organ system affected. |
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Dissection |
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weakening of the artery wall, when the inner layer
(intima) tears away from the outer layer (adventitia) at the
intermediate layer (media). |
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Dura |
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tissue that forms the covering of the brain and wall of
the spinal cord. |
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Dural Ectasia |
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swelling of the dura of the lower part
of the spinal cord due to loss of elasticity and gravity
acting on spinal fluids. The canal through the vertebrae
becomes enlarged as a result of erosion. |
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Dysplasia |
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(Developmental dysplasia of the hip) – incorrect
positioning of the head of the femur in the pelvic
socket |
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Echocardiogram |
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sonar scan of the heart and aorta to monitor any
enlargement and faulty valves. (It is completely safe and
painless.) |
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Ectopia lentis |
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dislaced lens in the eye due to loss of elasticity and
tearing of the suspensory ligaments. |
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Elastin |
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the elastic part of connective tissue. Fibrillin (faulty
in Marfan syndrome) is one of the microfibrils in
elastin. |
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Elbow extension |
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the extension of the elbow can be less than 170°
(hypomobility) in Marfan Syndrome, even though the joints are
frequently hypermobile (very loose). |
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Emphysema |
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loss of elasticity of the air sacs in the lungs. It occurs
in Marfan Syndrome, even without smoking. |
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Endocarditis |
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infection of the heart valves. Antibiotic prophylaxis is
recommended for dental procedures involving roots and
gastro-urinary surgery in Marfan Syndrome patients. |
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Exercise |
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only gentle exercise is recommended in Marfan Syndrome.
Contact sports can result in impacts which can lead to burst
aneurysms and ectopia lentis. Isometric exercise (straining
against something and lifting weights) can cause burst
aneurysms and exercising to maximal capacity can put too much
strain on the heart and weak joints. |
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Facial features |
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the head is usually long and narrow, with deep-set eyes
(enophthalmos), hollow cheeks (dolichocephaly) down-slanting
palpebral fissures (on eyelids) and a protruding jaw
(prognathia) or recessed jaw (retrognathia). |
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FBN1 |
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is the gene at 15q21 on chromosome 15 that is faulty in
Marfan Syndrome. Every family has a different mutation (error)
of the gene. |
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Fibrillin |
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is a microfibril in elastin and is faulty in Marfan
Syndrome. |
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Genetic Test |
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there is no conclusive genetic test for Marfan Syndrome as
yet. The disorder is diagnosed by evaluation of
symptoms. |
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Glaucoma |
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(open angle glaucoma) is increased pressure in the eye and
is common in Marfan Syndrome as a result of the abnormally
flat cornea. |
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Hernia |
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loss of elasticity results in hernias. These are usually
ingual (in the groin) or at operation sites |
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Hyperactivity |
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many Marfan Syndrome patients are hyperactive, with, or
without, attention deficit disorder. |
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Hypermobility |
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the joints are frequently loose, resulting in
"double-jointedness", and spontaneous dislocation is
common. |
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Iridodonesis |
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the iris often develops a wave-like motion when ectopia
lentis occurs. |
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Marfan |
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Antoine Bernard-Jean - French paediatrician who, in 1896,
described the musculo-skeletal features of a 5-year old child,
Gabrielle. The disorder became known as arachnodactyly (spider
fingers) and later (in 1938) as Marfan Syndrome. |
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Meiosis |
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(miosis, myosis) decreased contraction of the pupil
results from hypoplastic ciliary muscle (reduced suppleness in
the muscle that makes the pupil smaller in bright
light). |
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Mitral annulus |
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the area around the mitral valve is prone to calcify at a
relatively young age. |
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Mitral valve |
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the valve between the upper and lower chambers in the left
side of the heart is frequently deformed (mitral prolapse) and
results in clicks (from jerks), murmurs (from regurgitation -
leaks) and increased blood-pressure. Tachycardia (fast or
irregular heartbeat - palpitations) is common and is sometimes
associated with anxiety disorder, as the attacks are
frightening. |
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Myopia |
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the long (from front to back) eyeball frequently results
in short-sightedness (myopia). |
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Orthdontics |
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the narrow jaw and high palate results in overcrowding of
the teeth with the need for orthodontic treatment |
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Pectus |
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the long ribs push the breastbone (sternum) inwards to
form a funnel chest (pectus excavatum), or outwards to form a
pigeon chest (pectus carinatum). |
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Pes planus |
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weak ligaments results in inward pronation of the foot and
pes planus (flat foot). |
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Pulmonary artery |
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this artery between the heart and lungs is prone to
aneurysm. |
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Retina |
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the retina frequently partially detaches after surgery to
correct Marfan Syndrome symptoms, e.g. ectopia lentis,
cataract, etc. |
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Scoliosis |
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most Marfan Syndrome patients have at least some degree of
scoliosis (curvature of the spine), but it can be very marked,
with spondylolisthesis (movement of one vertebra relative to
the next). |
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Skin |
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the skin lacks elasticity and stretch marks (striae
atrophicae) are common. |
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Spontaneous mutation |
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although Marfan Syndrome is passed from parent to child by
autosomal dominant inheritance, it can also occur
spontaneously (without apparent reason) in an individual.
These patients are usually seriously affected and can pass
the
disorder to their children. |
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Stature |
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Marfan Syndrome patients are often tall and thin with long
arms and legs. (Arm span/height ratio of greater than 1.05 and
long lower segment to upper segment.) Long fingers give the
thumb sign (thumb protrudes from fist) and wrist sign (thumb
and smallest finger meet around opposite wrist). |
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Sternum |
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breastbone, which can be deformed as pectus carinatum or
pectus excavatum. |
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Strabismus |
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squint develops as a result of differences in vision
between the eyes, or weak muscles/ligaments. (See also
amblyopia). |
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