Marfan's syndrome
CLAUDIA M. MIEKICKI, CRNA
Medina, New York
The author presents a case report
concerning a parturientwith Marfan's
syndrome. Clinical manifestations
and complications of this unusual
syndrome are discussed along with
thoughts on anesthetic considerations
and pregnancy.
imately 3 cm. This was accomplished with 6 ml
of 0.25% bupivacaine hydrochloride. Two hours
later she was given another dose of 6 ml of 0.375%
bupivacaine. Just prior to delivery the epidural
was reinjected with 10 ml of 2% 2-chloroprocaine.
A viable female infant with Apgar scores of
nine at one minute and ten at five minutes was
delivered by outlet forceps. The patient's postpartum course was uneventful.
An eighteen-year-old black female presented to the
labor and delivery suite with a full-term intrauterine pregnancy. She had been followed in the
high risk obstetric clinic because of a diagnosis of
Marfan's syndrome. A cardiac catheterization one
year previous had revealed a mitral valve prolapse
and this was confirmed by an echocardiogram
prior to induction of labor. Concomitantly she had
a grade III/VI holosystolic murmur. There were
no symptoms of congestive heart failure.
The patient was tall and slim. Her height was
5 feet 7 inches and she weighed 47 kg. Her blood
pressure ranged from 84/64 to 100/60. She had no
prior surgical experience. Laboratory studies were
all within normal limits and the lecithin/sphingomyelin (L/S) ratio was 8.8. This measurement of
surfactant activity is considered to be positive
when the ratio is greater than 2.0 to 3.5. A positive
ratio assures the fetus will have a very low risk of
developing idiopathic respiratory distress syndrome.
The patient agreed to and was given epidural
anesthesia when cervical dilatation was approx-
Inheritance
The Marfan syndrome is inherited as a Mendelian autosomal dominant trait with variable expressivity. According to Pyeritz and McKusick,'
the prevalence of classic Marfan syndrome is four
to six per 100,000 persons. Since appreciable numbers of cases are very mild, the actual prevalence
of the syndrome may be much greater. Eighty-five
percent of persons with the Marfan syndrome have
one parent affected but approximately 15% of
cases appear to be sporadic. 2 The average paternal
age is increased in these sporadic cases which supports the idea that they represent fresh mutations.
Skipped generations do not occur and inheritance
is equal for both sexes.
Conclusive evidence is not available but it is
assumed that the basic defect accounting for the
syndrome is an inborn error of metabolism in
collagen or elastic fibers.' In the classic form the
syndrome is characterized by long, thin extremeties, dislocated lenses and cardiovascular disorders. 8 The prognosis is poor and average life expectancy is halved.'
142
Journal of the American Association of Nurse Anesthetists
Cardiovascular manifestations
The cardiovascular manifestations of Marfan's
syndrome lead to the poor prognosis. These have
been estimated to occur in 30%-60% of patients.
There is a connective tissue defect which leads to
weakness of the aortic wall. The defect involves
fragmentation and sparcity of elastic fibers and
accumulation of collagenous and metachromatically staining mucoid material. 4
These effects are seen in the ascending aorta
with the aortic root specifically being the first area
involved. Saccular-type aneurysms form due to the
weakness of the supporting media. Expansion of
the aortic root causes dilatation of the aortic ring,
resulting eventually in severe aortic insufficiency
and regurgitation.8 3. In most patients this is not
revealed by standard chest x-ray until dilatation
is advanced or regurgitation or dissection is already present, because the part of the aorta to
dilate first is within the cardiovascular silhouette.
Echocardiography has helped tremendously in detecting cardiovascular abnormalities and has improved diagnosis and management'
The aortic cusps, which probably develop the
same connective tissue defect, become enormously
sacculated. This defect may contribute to the
aortic regurgitation. Within a number of years
following development of this anomaly patients
are likely to have angina and left ventricular
failure. The weakness of the media of the aorta,
or cystic medial necrosis, leads to fusiform dilatation and dissection in the descending, as well as
the ascending, portions. Diffuse dilatation and dissection may occasionally coexist. The dissecting
aneurysms frequently seen in patients with Marfan's syndrome usually end proximal to the left
subclavian artery, but they are not necessarily
limited to the ascending aorta and have been observed in the abdominal aorta. 8" 7
Some other cardiovascular abnormalities include involvement of the pulmonary artery with
cystic medial necrosis, mitral valve prolapse and
regurgitation probably caused by stretching of the
chordae tendinae, and bacterial endocarditis. s No
specific electrocardiographic changes occur, however evidence of left ventricular strain or left
atrial enlargement may appear.' A prolonged P-R
interval secondary to mitral or aortic regurgitation
may be evident. 5
Skeletal anomalies
Long thin arms, legs and digits are the most
universal but not pathognomonic feature of Marfan's syndrome. 3 The arm span exceeds the height,
and the patient is taller than average for his age.
April/1983
Excessive longitudinal growth of the ribs may result in outward displacement (pectus carinatum)
or inward displacement (pectus excavatum) of the
sternum. This can complicate pre-existing cardiovascular problems and also cause a marked reduction in total lung capacity and residual volume.
Redundant ligaments, tendons and joint capsules may result in loose jointedness, hyperextensibility of joints, kyphoscoliosis, and habitual
dislocation of hips, clavicles, mandible and other
joints. 2 Other bony anomalies include a high
arched palate, long narrow face and prognathism.
An enlarged spinal canal in both the anteroposterior and transverse diameters may be present. 8
Ocular manifestations
Ectopia lentis or subluxation of the lens occurs in 50%-80% of classic cases. The lens is
most commonly displaced upward, noted during
slit-lamp examination. There is an increase in the
axial length of the globe contributing to a tendency to myopia and an increased risk of retinal
detachment, two common complications. Patients
also have relatively flat corneas, a condition which
contributes to the impairment of visual acuity.'
Pulmonary problems
Occasionally, spontaneous pneumothorax, emphysema and congenital lung abnormalities have
been reported. The prevalence of these pulmonary
problems in patients with Marfan's syndrome is
unknown. As was mentioned earlier, kyphoscoliosis and pectus deformities can cause an associated
decrease in total lung capacity and residual volume. But, even in patients without a skeletal basis
for pulmonary dysfunction, the forced vital capacity is consistently less than predicted by height due
to the disproportionate leg length.'
Pregnancy
Reproductive fitness is only slightly reduced
in the patient with Marfan's syndrome. 4 Therefore, a woman affected by the syndrome must
contemplate two issues when considering pregnancy. The first is a 50% risk that any offspring
will inherit the syndrome. The second is an apparent increased risk of aortic rupture during and
shortly after pregnancy.'
There is a well-recognized association between
pregnancy and increased incidence of dissecting
aneurysm. In a study of 49 cases of fatal dissecting
aneurysm in women under the age of 40, 24 were
found to have occurred during pregnancy. The
exact reason is unknown. It has been suggested
that a loosening of the connective tissue of the
143
aortic wall is caused by the hormonal changes of
pregnancy. 8 This has been observed in monkeys
and rabbits, and a similar loosening of articular
structures is thought to occur in human pregnancy. 6
The frequency of aneurysm rupture also parallels the physiologic increase in cardiac output
and blood volume during pregnancy. Thus, the
hemodynamic alterations would seem to be the
most important predisposing factor to this complication. 8
Anesthetic considerations
Preoperative evaluation should identify any of
the complications mentioned earlier that may be
present in the pregnant patient.3 Mangano 9 recommends regional anesthesia for labor and delivery. An epidural can be given early during the
course of labor to maintain a pain-free state and
a calm, relaxed patient. It is not known if the
enlarged spinal canal found in patients with Marfan's syndrome affects the dosage of local anesthetic used for regional anesthesia, but it is a fact
to consider.
Hypertension from any cause is to be avoided.
The increased stress and tension during systole on
already weakened arterial walls may increase tht
tendency for aortic dissection. Increased myocardial oxygen demand and consumption may precipitate ischemia or failure of an hypertrophied
myocardium. 3 A quiet environment, reassurance,
mild sedation and pain control may be all that is
necessary to ensure hemodynamic stability. If the
patient is already being treated with beta adrenergic blocking drugs these should be continued.
Continuous fetal heart rate monitoring is also
essential during the course of labor and delivery.
If general anesthesia is necessary for cesarean
section, an inhalation technique using halothane
or enflurane will lessen the likelihood of hypertension and tachycardia in response to intubation
and surgery. Invasive monitoring may be warranted, particularly when cardiac dysfunction is
present. Inidwelling arterial catlieters, however,
carry an increased risk of morbidity in a patient
with weakened arterial walls.3
Bony changes in the face can contribute to
difficulties witlh endotracheal intubation. Excessive
traction and strain on temporomandibular joints
and on all limbs should be avoided to prevent
trauma and dislocation. Positive pressure ventilation should be used with caution. Inflation pressures considered safe for a normal patient may
produce a pneumothorax in a patient with Mar-
144
fan's syndrome. Any sudden decrease in compliance could be an indication of this. 3
If aortic dissection is already present, rupture
with severe hemorrhage should always he anticipated. Preparation should be made for the possibility of massive transfusion, rapid inttubation
and resuscitation. The patient should have two
large bore intravenous catheters inserted and at
least eight units of blood should be available.
Closed chest massage may be made difficult by
chest deformities, with lung and chest injuries
possible. If cardiopulmonary
resuscitation is
needed, open chest massage may be indicated.
With the sudden onset of aortic dissection or
rupture, the awake patient will experience abrupt
excruciating pain in the abdomen or thorax migrating to tle lumbar or interscapular areas. Pain
may originate at other sites such as the neck, jaw
or extremities, or the dissection may be painless,
as is commonly seen in patients with Marfan's
syndrome. Hypertension with tachycardia or hypotension may be present. A murmnur of aortic insufficiency may be found if the ascending aorta is
involved. A palpable and tender aneurysm may
be present if the abdominal aorta is involved.
Asymmetric pulses in the major vessels, focal
neurologic signs and myocardial ischemia are other
possible findings. 9
Conclusion
Ideally, a woman should he diagnosed as having Marfan's syndrome before she undertakes pregnancy, and she and her spouse should be fully
informed of the genetic aspects and obstetric risks. 8
Because of the variable expressivity of the disorder,
it is impossible to be completely certain whether
Marfan's syndrome is actually present unless ectopia lentis, the most specific of the components, is
present or unless other members of the family
display unequivocal evidence of the syndrome.",
Because the number of women with Marfan's
syndrome who have undergone an uncomplicated
pregnancy and delivery is unknown, there are no
actual risk figures. If a woman has echocardiographic evidence of aortic dilatation it may be
wise to counsel her against pregnancy.
Women who decide to become pregnant are
considered to be a highl risk, and McKusick and
Pyeritz' recommend a medical evaluation every
six weeks. Thle obstetric anesthetist should be
aware of thle anatomical and physiological changes
in the patient with Marfan's syndrome and should
be prepared for any associated complications that
may arise during labor and delivery.
Journalof the American Association of Nurse Anesthetists
REFERENCES
(1) Pyeritz RE, McKusick VA. 1979. The Marfan syndrome:
Diagnosis and management. The New England Journal of
Medicine. 300:772-776.
(2) Bearn AG. 1971. The Marfan syndrome. Textbook of
Medicine. Philadelplia: W.B. Saunders Co. pp. 1711-1712.
(3) Katz J, Benumof J, and Kadis LB. 1981. Anesthesia and
Uncommon Diseases. 2nd ed. Philadelphia: W.B. Saunders Co.
pp. 68-69.
(4)
Murdoch J, et al. 1972. Life expectancy and causes of
death in the Marfan syndrome. The New England Journal of
Medicine. 286:804-808.
(5)
McKusick VA. 1972. Heritable Disorders of Connective
Tissue. 4th ed. St. Louis: The C.V. Mosby Company. pp. 93-94,
136, 155
(6)
McKusick VA. 1955. The cardiovascular aspects of Marfan's syndrome: A Heritable Disorder of Connective Tissue.
Circulation. 11:321-342.
(7)
Dunbar RW. 1979. Thoracic aneurysms. Cardiac Anesthesia. Ed: Kaplan JA. New York: Grune and Stratton. p. 370.
(8)
Elias S and Berkowitz RL. 1976. The Marfan syndrome
and pregnancy. Obstetrics and Gynecology. 47:358-361.
(9)
Mangano DT. 1979. Anesthesia for the pregnant cardiac
patient. Anesthesia for Obstetrics. Ed: Shnider SM and Levinson G. Baltimore: The William and Wilkins Company. pp.
209-210.
Nurse Anesthetist
AUTHOR
Claudia M. Miekicki, CRNA, is a 1973 graduate of St.
Joseph Hospital School of Nursing in Memphis, Tennessee, and
a 1978 graduate of the School of Anesthesia of St. Raphael's
Hospital in New Haven, Connecticut. Ms. Miekicki was a staff
nurse anesthetist at the Medical Center of Central Georgia in
Macon, Georgia, when this article was written. Currently she is
chief nurse anesthetist at Medina Memorial Hospital in Medina,
New York.
ACKNOWLEDGEMENT
The author would like to thank Graham W. Erceg, MD,
who was on the staff of the Department of Anesthesia at the
Medical Center of Central Georgia when this article was written
for his kind assistance and encouragement.
CRNA
Full-time position for CRNA
in active General Medical and
Surgical VA Medical Center in
Lake City, Fla.
Progressive Anesthesiology Department at a 242-bed community hospital in the scenic
Salary commensurate with experience. Plus liberal fringe
benefits.
Mid-Hudson Valley seeks a
qualified licensed candidate
for a full time Certified Nurse
Anesthetist position. Competitive salary and fringe benefits.
Lake City is located in north
central Florida. Wide variety
of recreational activities. No
state tax.
Direct resume and salary requirements to:
WRITE OR CALL:
Paul F. Heffernan
Assistant Executive Director
St. Luke's Hospital
70 Dubois Street
Newburgh, NY 12550
Personnel Service
VA Medical Center
Lake City, FL 32055
(904) 752-1400, Ext. 205
Equal Opportunity Employer
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a
April/1983
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