A 37-year-old woman with an established personal and family
history of Marfan's syndrome and a several-month history of severe
headaches, chest pains, and palpitations presented with acute onset
of severe chest pain radiating to her back. Physical exam confirmed
Marfanoid body habitus and revealed extreme lability in blood
pressure (ranging from 240/140 to 68/30), even after institution of
an aggressive, intravenous antihypertensive regimen. Laboratory
data are withheld. Initial imaging studies included CT of the chest
and abdomen and MRI of the abdomen.
Marfan's syndrome with aortic dissection complicated by
pheochromocytoma and medullary carcinoma of the thyroid gland.
CT of the aorta confirmed a type B dissection beginning just
distal to the origin of left subclavian artery and extending to the
level of the aortic bifurcation (figure 1). There was no evidence
of leakage or rupture. CT images through the upper abdomen revealed
a mass that appeared to be invading or displacing the right lobe of
the liver (figure 2). Most of the mass exhibited some degree of
contrast enhancement, with low-attenuation areas posteriorly.
MRI evaluation of the mass demonstrated low signal on T1 with
very high signal throughout most of the mass on T2-weighted images
(figures 3 and 4). T2-weighted images also revealed areas of low
signal posteriorly, with fluid-fluid levels indicating cyst
formation, necrosis, and/or hemorrhage. The mass exhibited a mild
degree of enhancement after gadolinium administration. Diagnostic
considerations include hepatic masses, such as cavernous
hemangioma, hemorrhagic adenoma, hepatocellular carcinoma, and
metastasis, as well as adrenal masses, such as hemorrhagic adenoma,
adrenal carcinoma, metastases, or pheochromocytoma. Serum and urine
catecholamines subsequently were found to be quite elevated, and
pheochromocytoma was confirmed after excising the mass (following
preoperative prophylaxis with phenoxybenzamine).
Review of the chest CT revealed a low-attenuation lesion in the
left lobe of the thyroid gland, and the serum calcitonin level was
found to be elevated. Total thyroidectomy was performed, and
medullary carcinoma confined to the left lobe of the thyroid gland
This patient's triad of Marfanoid habitus (arachnodactyly,
increased lower extremity-to-trunk ratio, and scoliosis),
pheochromocytoma, and medullary carcinoma of the thyroid gland
supports a diagnosis of multiple endocrine neoplasia type IIb.
However, this patient did not exhibit the characteristic mucosal
neuromas usually seen in this disorder. The MEN IIb syndrome
usually is inherited as an autosomal dominant trait. The patient's
parents exhibited no manifestations of the disease, but the
patient's sister and two sons do exhibit Marfanoid body habitus. In
Marfan's syndrome, aortic dissection and aneurysm are due to cystic
medionecrosis, probably related to production of faulty elastin
fibers. Other cardiovascular abnormalities associated with Marfan's
syndrome include mitral valve prolapse, mitral regurgitation, and
aortic root dilation with regurgitation.
Although the Marfanoid habitus is a relatively common phenotypic
expression in MEN IIb, the cardiovascular manifestations of
Marfan's syndrome, including aortic dissection as in this case,
have not been described previously in MEN IIb.
Whatever the ultimate genetic explanation for the appearance of
pheochromocytoma and aortic dissection in this patient, this
combination of pathology provided an interesting diagnostic and
therapeutic challenge. The tremendous blood pressure and cardiac
output fluctuations associated with catecholamine release by the
pheochromocytoma may have accelerated any preexisting weakness in
the tunica media and perhaps led to premature dissection.
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