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Case Report

doi: 10.4183/aeb.2013.623

Complication with vital risk in Marfan syndrome.


CASE REPORT
L. Macovei1,2, L. Anghel2,*, C. Statescu1,2, C. Arsenescu Georgescu1,2
Grigore T. Popa University of Medicine and Pharmacy, 2 George I. M.
Georgescu Cardiovascular Diseases Institute - Cardiology, Iasi, Romania
1

Abstract


Background. Aortic dissection is
a life-threatening disorder and up to 20%
of patients die before receiving medical
care. Marfan syndrome is noted in 59% of
individuals who suffer from aortic dissection.

Case presentation. We present
the case of a 53 years old woman, with
undiagnosed Marfan syndrome, addressed to
our clinic complaining about thoracolumbar
pain appeared 4 days ago, after a trauma.
According to the revised Ghent criteria for
the diagnostic of Marfan syndrome she had
a positive family history and more than 7
points of systemic findings. She was also
diagnosed with extensive aortic dissection
and right pneumothorax. Because of the
cachexia and important scoliosis, the
operative and post operative risk was high
and we decided a medical management. She
remained haemodynamically stable, with
a false lumen partially trombosed, and was
discharged home after 23 days.

Discussion. The particularity of
our case represent the diagnostic of Marfan
syndrome after the appearance of a vital risk
vascular complication aortic dissection,
the emergency surgical intervention being
limited by the clinical and prognostical
particularities of these two comorbidities.
Conclusion. Aortic dissection in

Marfan syndrome represents a diagnostic and


therapeutic challenge for interdisciplinary
practitioner physicians.

Key words: Marfan syndrome,
aortic dissection, trauma, pneumothorax,
clinical case.

Introduction

Marfan syndrome, a variable,
autosomal dominant disorder of the
connective tissue caused by mutations in
the extracellular matrix protein fibrillin
1, is noted in 59% of individuals who
suffer from aortic dissection (1). The
definition of the syndrome has evolved
throughout the 20th century, illustrating
the difficulty in diagnosis (2). It is one of
the major inherited disorders that weaken
the aortic wall, lead to higher wall stress,
which can induce aortic dilatation
and aneurysm formation, eventually
resulting in aortic dissection or rupture
(3, 4). Aortic dissection occurs as the
result of a tear within the intimal lining
of the aorta, leading to exposure of the
intima to elevated aortic pressures with
resultant separation of the intima from

*Correspondence to: Larisa Anghel MD, Cardiovascular Diseases Institute, Prof. Dr. George I. M.
Georgescu, 50 Carol I Avenue, Iasi, Romania, E-mail: larisa_med86@yahoo.com.
Acta Endocrinologica (Buc), vol. IX, no. 4, p. 623-632, 2013
623

L. Macovei et al.

the aortic wall to form a false lumen


(5). Exposure of the intima to elevated
aortic pressures ultimately results in
propagation of the dissection antegrade,
retrograde or in both directions from the
site of the initial aortic tear. Acute aortic
dissection typically occurs in the setting
of an underlying pathologic defect of the
aortic wall.

Marfan syndrome affects both
males and females equally worldwide
and has an estimated frequency of 5/
10,000 and a neomutation rate of 20% of
reported cases (i.e., 20% of the affected
patients have no parents affected)
(2). An accurate incidence has been
impossible to define because of the age
dependency of many of the features, the
common occurrence of some features in
the general population (such as scoliosis;
lean, tall habitus; mitral valve prolapse;
myopia), and shifting diagnostic criteria
(6). The diagnosis of Marfan syndrome
relies on defined clinical criteria (Ghent
nosology), outlined by international
expert opinion to facilitate accurate
recognition of this genetic aneurysm
syndrome and to improve patient
management and counseling. These
Ghent criteria, comprising a set of major
and minor manifestations in numerous
tissues including the skeletal, ocular,
cardiovascular, and pulmonary systems
and the dura, skin and integument, have
proven to work well since with improving
molecular techniques, confirmation of
the diagnosis is possible in over 95%
of patients. Aortic root aneurysm and
ectopia lentis are the cardinal clinical
features. In the absence of findings that
are not expected in Marfan syndrome, the
combination of ectopia lentis and aortic
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root enlargement/dissection should


be sufficient to make the diagnosis.
All other cardiovascular and ocular
manifestations of Marfan syndrome and
findings in other organ systems, such
as the skeleton, dura, skin and lungs,
contribute to a systemic score that
guides diagnosis when aortic disease is
present but ectopia lentis is not (7).

Over the last few years,
important advances have been made in
the diagnosis, medical and surgical care
of affected individuals: new diagnostic
criteria have been proposed, new clinical
entities recognised and life expectancy
increased but, yet substantial morbidity
and premature mortality remain (8).

Anomalies of the cardiovascular
system, which account for a significant
part of the reduced life span of patients
with Marfan syndrome (9), were initially
outlined by McKusick (10). The most
common cardiovascular manifestation
of Marfan syndrome is dilation of the
ascending aorta at the level of the aortic
sinuses. This progressive aortic sinus
enlargement leading to aortic aneurysm
is present in 5060 % of adult Marfan
patients (11).
Case report

We present the case of a
woman 53 years old, with undiagnosed
Marfan syndrome, adressed to our
clinic complaining about thoracolumbar
pain appeared 4 days ago, after a
trauma. Initially, the family history
of the patient was noncontributory
(we did not have some anamnestic
or medical data) but, further history
(after we examined her sister) revealed

Marfan syndrome with aortic dissection

that she has also Marfan syndrome.



At admission, her vital signs
were as follows: blood pressure (BP)
at left arm 160/90 mmHg and 155/90
mmHg at the right arm, heart rate (HR)
96, respiratory rate (RR) 14 and an
oxygen saturation of 94% at room air.
Otherwise, pulses were present and
undiminished, and vital signs were stable.
She was alert and oriented without acute
distress. Heart sounds were regular, with
no murmur, click, bruit or rubs noted.
Percussion of the basal right chest was
hyperresonant with the breath sounds
diminished at this level. Her abdomen
was soft, nontender, with no pulsatile
mass, rebound or guarding.

The patient was identified as
having features clinically suggestive of
Marfan syndrome.

The Ghent nosology, last
revised in 2010, summarizes genetic
analysis and clinical symptoms, allowing
standardized and reproducible diagnoses.
In the revised nosology, new diagnostic
criteria have been defined for a sporadic
patient and for an index patient with a
positive family history (7).

According to the revised Ghent
criteria for diagnosis of Marfan syndrome
(7) our patient had the following traits on
history and physical exam:

wrist AND thumb sign,
arachnodactyly - 3 (Fig.1);

pectus carinatum deformity-2;

hindfoot deformity - 2;

pneumothorax - 2;

scoliosis - 1 (Fig. 2);

reduced elbow extension - 1;

facial features (3/5) - 1
(enophthalmos, downslanting palpebral
fissures, malar hypoplasia, retrognathia);

Figure 1. Arachnodactyly.

Figure 2. Scoliosis over 20o.


skin striae - 1;

myopia > 3 diopters - 1;

presence of family history of
Marfan syndrome (her sister).

Because of a positive family
history of Marfan syndrome and more
than 7 points of systemic findings, our
patient was diagnosed with Marfan
syndrome.
Electrocardiogram
showed
normal sinus rhythm and her blood results
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L. Macovei et al.

were unremarkable, in particular cardiac


enzymes were not elevated. Chest X-ray
showed an important thoracolumbar
scoliosis with right supradiaphragmatic
pneumothorax with the thickness of 2
centimeters (Fig.3).

Figure 3. Chest X ray. Important thoracolumbar


scoliosis
with
right
supradiaphragmatic
pneumothorax with the thickness of 2 cm.


A transthoracic echocardiogram
demonstrated normal left ventricular
function with ejection fraction of
60%, mild aortic, mitral and tricuspid

insufficiency, with dissection of the


ascending aorta and aortic arch, but the
descending aorta was not visible (Fig. 4).

The aortography demonstrated
aortic dissection involving the ascending
aorta, aortic arch and the origin of left
common carotid artery, with extension
into the thoracic, abdominal aorta and
bifurcation of the both common iliac
arteries (Fig.5).

Given the presence of right
pneumothorax, the patient was transferred
to the cardiothoracic surgery service.
After resolving the pneumothorax by
pleurotomy, the patient was readdressed
complaining of chest and back pain.

The patient had a certain
indication for the surgical treatment,
but because of the cachexia (Body mass
index = 16.6 kg/m2) and important
scoliosis, the operative and post operative
risk was high and we decided a medical
management.

At the cardiology hospital, she
remained haemodynamically stable and
the blood pressures were well-controlled
with antihypertensive medications. She

Figure 4. Two-dimensional parasternal short-axis (A) and long axis (B) echocardiographic view of the
heart with a flap in the ascending aorta.
626

Marfan syndrome with aortic dissection

Figure 5. Aortography with intimal flap in abdominal aorta (A) and bifurcation of the both common
iliac arteries (B).

complained of ongoing chest and back


pain which settled with analgesia.

Some repeat Doppler were done
which showed persistent dissections
of ascending aorta, aortic branch and
descending aorta, with a false lumen
partially trombosed. Patient was finally
discharged home on antihypertensive
medications after 23 days of
hospitalization.
Discussion

Extensive aortic dissection and
right pneumothorax discovered after a
trauma in a patient with undiagnosed
Marfan syndrome is rare in the existing
literature. Beside a history of trauma,
our patient had no other significant
predisposing factors for acute aortic
dissection, such as a history of
hypertension, prior cardiac surgical
intervention, or known connective tissue
disease.

Cardiovascular complications
are recognized to be the major cause
of morbidity in patients with Marfan

syndrome. Aortic dissection or rupture


accounts for most of the premature
mortality, a risk that rises steeply
during adolescence, resulting in death
for as many as 50 % of undiagnosed
and untreated Marfan patients by the
age of 40 years (11). Dissection of the
aorta remains an issue for adult Marfan
syndrome patients. Men are more prone
to aortic root dilation and thus more
prone to aortic dissection (12). Aortic
root dilation is more common in early
conspicuous Marfan syndrome than in
those cases diagnosed in adulthood (13).

Most patients who have Marfan
syndrome are usually diagnosed
incidentally when they present for a
routine physical examination (14). Less
frequently, the diagnosis is made when
a patient presents with complications of
the syndrome, such as aortic dissection or
with involvement of the pulmonary, skin
or nervous systems. However, as noted by
Ramanath et al. in a very comprehensive
review on acute aortic syndromes, a
key point for clinicians is that nearly
30% of patients later found to have
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L. Macovei et al.

acute aortic dissection are initially diagnosed as having other conditions (15).

Approximately two thirds of
patients with acute aortic dissection
are male and mean age at presentation
ranges between 62 and 67 years (16).
Among patients less than 40 years of age
with aortic dissection, risk factors such
as Marfan syndrome, previous aortic
aneurysm, and bicuspid aortic valve are
common (17). The presence of Marfan
syndrome has been associated with
adverse outcome among survivors of
type B dissection (18).

This is a rare case of extensive
aortic dissection involving the left
common carotid artery, the ascending,
thoracic, abdominal aorta and bifurcation
of the both common iliac arteries. The
risk of death is high in untreated aortic
dissection. While the risk is very high
in the first 24 hours of the event, those
that survive the initial event still have
an elevated mortality compared to ageand sex-matched controls. It is estimated
that up to 20% of patients with aortic
dissection die before receiving medical
care, and mortality estimates within the
first 48 hours of treatment have been as
high as 1% to 1.4% per hour (19, 20).
This is not surprising considering the
fact that type A of aortic dissection, by
definition, must involve the ascending
aorta and are therefore more prone
to catastrophic complications such
as cardiac tamponade, myocardial
infarction, and aortic regurgitation (21).
Among patients with aortic dissection,
the majority of deaths occur within the
first 7 days of presentation, if not within
the first 48 hours (1).

A few case reports of dissection
628

of common carotid arteries do exist;


however, none to the same extent of
aortic involvement as our case exists.
Lee et al. reported a case of a 61-yearold man with history of chronic
hypertension presented with a one-day
history of chest pain, vertigo, left facial
drooping, and left hemiparesis with
continuous, extensive aortic dissection
involving the bilateral common carotid
arteries, the ascending, thoracic, and
abdominal aorta and bifurcation of the
right common iliac artery (21). Yeh
et al. reported a case of a 56-year-old
woman with vague chest pain and focal
neurologic deficits whose decreased
mental status on initial presentation
made it difficult for a thorough medical
history to be obtained. Diagnosis relied
on CT angiography which delineated a
type A of aortic dissection involving both
common carotid arteries (22). Similarly,
Demiryoguran et al. reported a 63-yearold female with a predominant symptom
of vertigo who was also found to have
aortic dissection involving the ascending
aorta, aortic arch, and bilateral common
carotid arteries (23).

Our paper demonstrates the
importance of a complete workup of
all major aortic branches after aortic
dissection at a specific location such
as the common iliac artery has been
confirmed. Unlike the aforementioned
cases of bilateral common carotid arteries
dissection, our patient had additional
dissection of the entire length of the
aorta down to the bilateral common iliac
arteries. Even in the absence of trauma,
it is equally imperative that all branches
of the aorta be scanned for ancillary
involvement in order to better delineate

Marfan syndrome with aortic dissection

the extent of the dissection and plan


for medical or surgical management
accordingly (21).

Because the risk of death due
to aortic dissection is highest in the first
few hours after the dissection begins, the
therapeutic strategies differ for treatment
of an acute dissection compared to a
chronic dissection. An acute dissection
is one in which the individual presents
within the first two weeks. If the
individual has managed to survive
this window period, his prognosis is
improved. About 66% of all dissections
present in the acute phase. Individuals
who present two weeks after the onset
of the dissection are said to have chronic
aortic dissections. These individuals
have been self-selected as survivors of
the acute episode, and can be treated
with medical therapy as long as they are
stable (24).

Today, cardiovascular manifestations of Marfan syndrome remain
among the central issues in diagnosis and
management, but it is incumbent on the
physicians who encounter these patients
to stress the prophylactic monitoring and
therapies that now can result in a nearly
normal life expectancy. Although the
revised Ghent criteria of 2010 are easier
to apply, they do raise some issues that
need to be addressed (25).

The
diagnostic
evaluation
for Marfan syndrome is unavoidably
complex due to the highly variable
presentation of affected individuals,
the age dependent nature of many of
its manifestations, the absence of gold
standards, and its extensive differential
diagnosis. While diagnostic criteria
should emphasise simplicity of use and

the desire for early diagnosis, accuracy


receives highest priority in order to avoid
the deleterious and often irreversible
consequences of ungrounded or
erroneous assignment (7).

Despite the morbidity and
mortality associated with Marfan
syndrome, appropriate medical and
surgical management can improve
and extend the lives of many patients.
Tomorrows therapies are tried in clinics,
or on animal models (26).

In conclusion, the particularity
of our case represent the diagnostic
of Marfan syndrome with chronic
aortic dissection, a vital risk vascular
complication. The indication of surgical
intervention is limited by the clinical
and prognostic particularities of these
two comorbidities. The aortic dissection
in Marfan syndrome represent a
diagnostic and therapeutic challenge for
interdisciplinary practitioner physicians.
Conflict of interest


We declare that there is no conflict
of interest.

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