Erina Aukščiūnienė1, Rūta Dirsienė2, Vaida Mizarienė2
1 Lithuanian University of Health Sciences, Kaunas, Lithuania
2 Department of Cardiology, Lithuanian University of Health Sciences, Kaunas, Lithuania
Abstract
Introduction: The aneurysms of the thoracic aorta are most common in the VI–VII life decade. In this case report we present a young female with an aneurysm of ascending aorta and severe aortic valve regurgitation.
Case report: A 33-year-old woman with shortness of breath and other typical symptoms of the aneurysm of the aorta and a severe regurgitation of the aortic valve had underwent several tests to find the main cause of this mentioned disease. The patient was treated surgically – the David Procedure was performed, and the aortic valve was repaired.
Conclusion: This case report shows that the aneurysm of ascending aorta could be present at a young age without any specific obvious predisposing factors such as congenital bicuspid aortic valve, phenotypic signs of Marfan syndrome or known familiar history.
KEYWORDS: thoracic aorta aneurysm; aortic valve regurgitation; familial aneurysms syndrome.
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Medical Sciences 2022 Vol. 10 (3), p. 82-92, https://doi.org/10.53453/ms.2022.07.10
Case report: giant ascending aorta at a young age
Erina Aukščiūnienė
1
, Rūta Dirsienė
2
, Vaida Mizarienė
2
1
Lithuanian University of Health Sciences, Kaunas, Lithuania
2
Department of Cardiology, Lithuanian University of Health Sciences, Kaunas, Lithuania
Abstract
Introduction: The aneurysms of the thoracic aorta are most common in the VI–VII life decade. In this case
report we present a young female with an aneurysm of ascending aorta and severe aortic valve regurgitation.
Case report: A 33-year-old woman with shortness of breath and other typical symptoms of the aneurysm of the
aorta and a severe regurgitation of the aortic valve had underwent several tests to find the main cause of this
mentioned disease. The patient was treated surgically - the David Procedure was performed, and the aortic valve
was repaired.
Conclusion: This case report shows that the aneurysm of ascending aorta could be present at a young age
without any specific obvious predisposing factors such as congenital bicuspid aortic valve, phenotypic signs of
Marfan syndrome or known familiar history.
KEYWORDS: thoracic aorta aneurysm; aortic valve regurgitation; familial aneurysms syndrome.
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83
1. INTRODUCTION
Degenerative aneurysms of the thoracic aorta
are the most common in the VI–VII life decade,
mainly in males with other risk factors for
atherosclerosis (1). Conversely, when an aortic
disease occurs in a young patient, further
evaluation is needed to detect rarer causes. The
majority of patients with aortic aneurysms have
a long latent period before clinical symptoms
appear (2). In many cases during an imaging
examination on the chest, for example, chest
XR, echocardiography, the aortic aneurysms
can be detected incidentally. Symptoms from
compression of adjacent structures can be the
presenting feature: chronic chest pain, cough,
dysphagia can result from pressure on the
sternum, trachea, or esophagus respectively (2).
However, in 75% of patients, the first
presentation is an acute sudden severe tearing
chest pain (2). We present a case report of a
young female with an aneurysm of ascending
aorta and severe aortic valve regurgitation.
2. CASE REPORT
A 33-year-old woman was admitted to the
emergency department due to severe shortness
of breath which lasted for 3 days. The dyspnea
occurred especially at night and weakened only
after changing the position to sitting or
standing. Furthermore, headaches appeared in
the temporal field and the patient felt
palpitation. The patient denied other
comorbidities, usage of any drugs, or previous
cardiovascular diseases in her family. She was
a long-term smoker.
During the first physical examination, the
general condition of the patient was stable. The
heart rhythm was regular with 70 beats/min.
The blood pressure was 110/44 mmHg in the
left arm and 116/48 mmHg in the right. Cardiac
auscultation revealed a decrescendo systolic
blowing fourth-degree murmur, best heard on
the left lower sternal border, spreading to
Botkin-Erb’s point, neck, between the shoulder
blades and diastolic fourth-degree murmur at
the Botkin-Erb’s point spreading to the apex.
Breathing sounds were clear. Systolic pulse
with the diastolic wave was felt on both sides
of the tibialis posterior arteries. No other
objective significant abnormalities were found
during physical examination.
For further treatment, the patient was
hospitalized in the Department of Cardiology.
Total blood count, creatinine level, electrolytes,
glycaemia, coagulation parameters were
normal. Erythrocyte Sedimentation Rate (ESR)
was 6 mm/h (normal range (NR) 0-11mm/h),
C-reactive protein (CRP) was 5 mg/l (NR 0-5
mg/l), hemoglobin (Hb) – 124 g/l (NR 120-155
g/l). NT-pro- BNP was slightly elevated (267
ng/l) (NR 0-125 ng/l).
The electrocardiogram showed sinus rhythm,
left ventricular hypertrophy, high symmetrical
T wave in thoracic derivatives and ischemic
changes: T wave depression in aVL
derivations, q waves in III, aVF derivations.
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Chest X-ray showed a small venostasis in the
lungs without infiltration, increased size of the
aorta. (Figure 1)
2D echocardiography revealed evidence of a
severe dilatated proximal part of ascending
aorta (86 mm) with a severe regurgitation of the
aortic valve. A large aneurysm of the aortic root
and ascending part was visible - about 7 cm in
length from the annulus of the aortic valve. The
aortic valve was tricuspid. The left ventricular
(LV) was dilated, especially in the middle part
up to 74 mm. LV systolic function was normal
(ejection fraction (EF) – 55%) with eccentric
LV remodeling. (Figure 2,3)
An urgent computed tomography (CT) scan
(CT aortography) was performed (Figure 4).
There were no signs of dissection. Accurate
diameters of the thoracic and abdominal aorta
were measured.
After diagnosing a severe aneurysm of the
ascending aorta, in the absence of a traumatic
origin or bicuspid aortic valve with possible
aortopathy, immunological tests were
performed suspecting possible aortitis related
to autoimmune, connective tissue disease.
Antinuclear antibodies (ANA) and
antineutrophil cytoplasmic antibodies (ANCA)
were negative. Treponema pallidum IgG/IgM
antibodies were investigated on suspicion of
syphilitic aortitis as a possible cause of
aneurysm (it was not found). In research of
possible causes, antibodies against hepatitis C
virus (HCV) and hepatitis B virus surface
antigen (HBsAg) had also been tested and
returned negative.
Medicinal treatment with beta adreno-receptor
blockers (metoprolol) was prescribed to
decrease the risk of aneurysm rupture.
Anamnesis, results of laboratory test,
echocardiography, CT scan were discussed in
Heart team and decided to perform open-heart
surgery – replacement of ascending aorta and
aortic valve – was done while the risk of the
operation was low EuroSCORE II (3) - 1.2%).
The patient was directly transferred to the
Department of Cardiac Surgery. The surgical
approach was performed through the median-
thoracotomy, followed by cannulation of the
ascending aorta, inferior vena cava and right
atrium (RA), clamping down on the ascending
aorta (for 70 minutes). Infusion of the
cardioplegic solution to the heart ostia was
initiated. The operation was performed using
the Artificial Blood Circulation System
(ABCS) - cardiopulmonary bypass (for 93
minutes). During Valve Sparing Root
Replacement (also called the David Procedure)
the ascending part of the aorta was exchanged
with a 30 mm prosthesis, and the aortic valve
was repaired and reconnected to a new section
of aortic tissue. By preserving the native aortic
valve, patients avoid the need for lifelong
anticoagulation therapy (4,5). Aortic tissue
pathology showed degenerative changes only.
After the operation, a larger secretion from the
drain was observed. Coagulation rates were
adjusted by 2 pieces of fresh frozen plasma and
6 pieces of cryoprecipitates. The patient
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underwent urgent re-sternotomy and second
review of sutures, operation field. After re-
opening of the sternum, a solid hematoma
around the aortic root was observed, about 150
ml of clot was removed. Active bleeding from
the prosthetic connections was not observed.
After a successful suspension of bleeding,
restoration of hemostasis the patient was treated
at the Intensive Care for 4 days.
Intravenous heparin (dose adjusted according
to ADTL), then warfarin (a dose adjusted
according to clotting rates) were given to
prevent thrombosis.
Eight days after surgery, echocardiography was
repeated. The aortic valve was functioning
well, mild central regurgitation was observed,
no additional masses on the valves were visible,
LV diameter was decreased (48 mm) and LV
EF was normal (55%).
Further treatment with warfarin was
recommended for up to 3 months, following
aspirin for up to one year.
The follow-up echocardiography after 3
months demonstrated a well-functioning
prosthesis of ascending aorta, mild aortic and
more significant reduction of LV mass.
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Figure 1. Chest X-ray
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Figure 2. 2D transthoracic echocardiography
Parasternal long-axis view: severe dilation of the aortic root and dilated LV
Figure 3. Severe aortic regurgitation in 2D transthoracic echocardiography
Apical three chambers view: severe aortic regurgitation
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Figure 4. CT angiography
Severe dilation of ascending aorta
3. DISCUSSION
This case report shows that the aneurysm of
ascending aorta could be present at a young age
without any specific obvious predisposing
factors such as congenital bicuspid aortic valve,
phenotypic signs of Marfan syndrome or
known familiar history. The patient was
asymptomatic possibly for a long time. She
even gave birth without complications.
Fortunately, a huge aneurysm was established
before the dissection occur and life-threatening
complication was avoided.
Thoracic aortic aneurysms (TAA) are common
in cardiovascular practice. The prevalence of
TAA is estimated to be 6 persons per 100,000
per year (6). TAA are most often clinically not
detectable and can be identified incidentally
when an imaging examination is performed
prophylactically. Initial symptoms of TAA
most often are potentially fatal conditions such
as aorta dissection or rupture. Over 95% of
thoracic aortic aneurysms are asymptomatic
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until the point of dissection or rupture (6). In
various studies, TAA occurrence was 0.16–
0.34 % (7).
About 20% of patients with aortic dissection
are dying before reaching the hospital (8).
Without treatment, the mortality rate is 1 to 3
%/hour during the first 24 hours, 30% during 1
week, 80% during 2 weeks, and 90% during 1
year (8). The hospital mortality rate for treated
patients is about 30% in cases of proximal
dissection and 10% when the distal part is
dissected (8). For treated patients who survive
the acute episode, the survival rate is about 60%
during 5 years and 40% during 10 years (8).
Aneurysms of the ascending thoracic aorta
most often result from cystic medial
degeneration during smooth muscle cell and
elastic fiber loss. Medial degeneration leads to
weakening of the aortic wall, which results in
aortic dilatation and aneurysm formation. In the
long term, it is also very important to determine
all possible causes of aneurysms for a better
outcome.
The aortic aneurysm can be caused by several
diseases. Frequently it is related to connective
tissue diseases such as Marfan syndrome,
Ehlers–Danlos syndrome, or familial
aneurysms syndrome. According to the other
researches aneurysms can also occur in
congenital diseases such as Turner syndrome,
tetralogy of Fallot, bicuspid aortic valve
(BAV), Takayasu’s arteritis, syphilitic aortitis.
In this reported case, according to diagnostic
tests – echocardiography, laboratory tests -
syphilis, BAV and tetralogy of Fallot were
denied. In this case, only a few causes can be
considered.
First of them is Marfan syndrome - a heritable
autosomal-dominant disorder caused by
mutations in one of the genes for fibrillin-1.
Forementioned structural protein is the major
component of microfibrils of elastin. The
mutations result a decrease of elastin in the
aortic wall. Consequently, the aorta loses
elastic properties that lead to its stiffness and
dilatation. This is considered as the main cause
of ascending aorta aneurysms in patients of
young age. Up to 80% of patients with Marfan
syndrome have dilatation of ascending aorta
(9). The data of several studies suggested that
although cases of thoracic aortic aneurysms in
the absence of overt connective-tissue disorders
may be sporadic (10), they are often familial
and are referred to as the familial thoracic aortic
aneurysm syndrome. In an analysis of their
large database of thoracic aortic aneurysm
patients, Coady MA and colleagues found that
at least 19% of patients had a family history of
a thoracic aortic aneurysm, and they presented
at significantly younger ages than did those
with sporadic aneurysm (10). In this case, the
family history of aneurysms is not known but
relatives were not fully investigated. It should
be done in the nearest future.
The third suspected cause of an aortic aneurysm
is Takayasu’s arteritis. It is a chronic
inflammatory disease of unknown etiology.
The disease affects women far more often than
men, and the mean age at the time of diagnosis
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is 29 years (10). It typically causes obliterative
luminal changes in the aorta and other involved
arteries. However, in 15% of cases, aortic
dilatation may occur and result in aneurysms
(10). Therefore, if TAA occurs in a young
woman with symptoms of a systemic
inflammatory process, the doctor should
consider Takayasu’s arteritis. In this case – the
chronic inflammatory process according to the
laboratory tests was denied.
Ehlers–Danlos syndrome (EDS) is one more
possible option which could be responsible for
aortic dilation. It is characterized by the laxity
of the joints and skin disorders. Up to 28% of
patients with EDS (all types confounded)
present with ascending aorta dilatation (11). A
recent retrospective study suggested that these
aortas seem to normalize in size when children
with EDS become adults (9). However, type IV
EDS (autosomal dominant disorder) is
characterized by characteristic skin
manifestations associated with arterial, uterine,
and intestinal dissection and rupture (9).
Aneurysm formation is a usual cause for
arterial complications, but they can also occur
spontaneously. This syndrome is associated
with the COL3A1 mutation, and the diagnosis
can be made by DNA amplification or by
collagen analysis (9).
One more rare but possible cause of an aortic
aneurysm is Turner syndrome which is
associated with several cardiovascular
anomalies, including a bicuspid aortic valve
and coarctation of the aorta. Thoracic aortic
aneurysms are also found and typically involve
the ascending aorta.
It is always essential to assess risk factors.
Moreover, hypertension and smoking appear to
accelerate the process by increasing elastolytic
enzymes in the aortic medial layer (9,12). In
many research hypertension increases
ascending aorta dilatation and predisposes of
formation of TAA. Unlike inherited forms of
ascending aortic aneurysms, hypertension
related TAAs complicate at diameters over 6.0
cm and the risk of complications increases
exponentially with the further increase in
diameter (9).
However, we should consider the possibility of
frequent secondary causes. One of them is
atherosclerosis, which has long been
considered as the second cause of aortic
aneurysm formation. The atheromatous plaques
destroy small muscle cells and elastic fiber
architectures, and as a result, the aortic wall
becomes weaker (9).
The main treatment of aneurysms is surgical.
Therefore, medical treatment helps to reduce
the risk of rupture. However, the medical
therapies are quite limited. In a randomized
study of adults with Marfan syndrome, Shores
et al. found that treatment with propranolol
(versus no β-blocker therapy) over 10 years
resulted in a significantly slower rate of aortic
dilatation, fewer aortic events, and lower
mortality (10). Unfortunately, whether these
benefits can truly be extrapolated to the non-
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Marfan population with thoracic aneurysms
remains unknown.
In this presented case the predominant cause of
aortic aneurysm was not determined. The
patient was referred to outpatient genetic
investigations. Genetic findings will not change
the tactics of treatment but according to the
genetic findings other family members, such as
parents, other siblings or the patient’s children
should also get examined for possible TAA.
During lifetime the disease could progress, and
the patient must be monitored.
CONCLUSION
The aneurysm of ascending aorta is a lethal
disease and has a potentially high mortality.
Lifestyle changes, medical treatment, control of
risk factors and serial imaging assessment of
aortic aneurysm are also very important in the
management of these patients. Comprehensive
investigations for possible causes of aneurysms
are essential for better outcomes. Results of
treatment strongly depend on etiology because
an aneurysm could be only one component of
specific composite syndromes. Strict and
regular life-long follow-up is indicated to detect
continuous dilatation of ascending aorta, to
assess the severity of aortic regurgitation in
order to achieve a more favorable prognosis.
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