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Uncommon Pulmonary Complication in Marfan Syndrome
CASE REPORT
Uncommon Pulmonary Complication in Marfan Syndrome
Tikal M. Kansara
Senior Resident, Department of Medicine, SSG Hospital & Medical College Vadodara
ABSTRACT
BACKGROUND: Marfan syndrome (MFS) is an inherited connective tissue disorder with autosomal dominant
inheritance. It has varied clinical course and involves multiple systems, most likely ocular, skeletal, and
cardiovascular, some of which may be life threatening.1, 2 OBJECTIVE: To describe an uncommon presentation of
Marfan syndrome and discuss the current management and possible approach for the same. METHODS: Detailed
history, physical examination and laboratory investigations. CONCLUSION: Occasionally, respiratory system
involvement can be the first clinical presentation of Marfan syndrome, and its complications can be dreadful; even
life threatening. Hence, should there be any signs of upper respiratory tract infection, it should be aggressively
treated and extreme care be taken during and after any operative procedure including pre and post chest
physiotherapy.
Key Words: Marfan syndrome, Respiratory Infections
INTRODUCTION
Marfan syndrome is an autosomal
dominant, multisystem connective tissue
disease, associated with a mutation in
fibrillin, and occasionally a mutation in
TGFBR1 or 2.3,4 The cardinal features of
this
condition
revolve
around
cardiovascular, ocular and skeletal
system.5 Prevalence is 1 per 5000
population and 26 % cases have no family
history.6, 7 Main features include aortic
root dilatation, chest wall deformities, long
slender fingers, lens dislocation and
myopia. Diagnosis is usually made by
using the revised Ghent criteria which
includes a detailed clinical examination.8
Even though the life expectancy has
increased from 40 to 70 years2, with early
diagnosis of complications especially
cardiovascular; they continue to suffer
significant
morbidity.
Pulmonary
manifestations which the literature
describes include restrictive lung diseases,
sudden lung collapse (spontaneous
pneumothorax), emphysema, asthma and
*Corresponding Author:
Dr. Tikal M. Kansara
Senior Resident,
SSG Hospital & Medical College
Vadodara-390001
Contact No: 8980005722
Email: [email protected]
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Int J Res Med. 2016; 5(3); 175-177
sleep apnea.10 Association of Marfan
syndrome with empyma and tuberculosis
is not described in the literature.
CASE REPORT
A 30 year old female, presented to the
emergency department with acute onset of
dyspnoea for 2 days; fever, high grade,
with chills and rigors, intermittent lasting
for a few hours a day and partly relieved
by medications from local doctors for 2
days; cough which was dry initially, but
later productive of whitish sputum for 2
days and chest pain which was dull aching,
vague, more on right side of chest for 2
days. She had no history of orthopnea,
paroxysmal nocturnal dysnopea or
palpitations.
Her past history was significant for sputum
positive pulmonary tuberculosis a year and
a half ago, for which she was put on AntiKoch’s’ therapy (Category I AKT under
Revised National Tuberculosis Control
Programme, RNTCP) and she was sputum
negative within the first two months of
treatment. She continued and finished her
full course of Category I AKT for 6
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Uncommon Pulmonary Complication in Marfan Syndrome
months. 4 months ago she had similar
representing empyma.
symptoms of dyspnoea, fever and cough,
 Collapse of right middle lobe was seen.
for which she went to a local tertiary care
 Thin walled cavities in bilateral upper
hospital, where right sided fluid was
lobes and apical segment of right lower
diagnosed on Chest X-Ray and chest
lobe.
ultrasound, but ultrasound guided tapping
 Dilated main pulmonary artery may
did not aspirate any fluid. She withheld
represent
pulmonary
arterial
any further treatment thereafter and went
hypertension.
home on oral antibiotics, from which she
 Calcification in apical segment of right
improved symptomatically, but there was
lower lobe representing granuloma.
no follow up. Her family history was
Her sputum stain was suggestive of gram
negative for any major ailments as well as
positive coccus in pairs (p/o Streptococcus
any genetic disorder. Clinically, her blood
pneumonia and thick gram negative bacilli
pressure was 104/70, with a heart rate of
p/o capsulated organisms; cultures were
110, and tachypnea at 28/min. Her O2
however negative) and her sputum acid
saturation was 86% on room, air and 95%
fast bacilli (AFB) was negative. 2D-Echo
with nasal oxygen. On examination, she
report was suggestive of bellowing of
had thin, slender fingers, pectus
AML into LA in systole, her Z-score for
excavastum and a visually tall stature. Her
aortic root being 2.8.
height was 167 cms (5’ 4”) and arm span
X-Rays of wrists were done with
of 179 cms (5’ 9”). Upper to lower
metacarpal index of 8.8. X-Ray Pelvis
segment ratio of 0.81 and arm span to
with bilateral hips showed angle of Wiberg
height ration of 1.07. Her chest wall
showed pectus excavatum. Her air entry
was absent on right basal and lower zone
region, both anteriorly and posteriorly. Her
other system examination were all normal.
Her laboratory findings are as follows:
Her Complete Blood Count (CBC) showed
hemoglobin of 11.9 gm/dl; with total count
raised to 13,300 /cu. mm with diffential of
N 94%, L 04%. Her X-Ray showed slight
haziness in right basal lung field. ECG was
suggestive of P-pulmonale with T
inversion in V3 to V6 with persistence of
S wave till V6. Her ultrasound chest
showed mild free fluid with thick internal
sepatations with the underlying lung
consolidated. Pulmonary function tests
were normal with peak expiratory flow
rate (PEFR) 120 /min. HRCT Chest
suggestive of:
 Loculated right mild pleural effusion
with enhancing pleural thickening
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Int J Res Med. 2016; 5(3); 175-177
of 42. Her thumb’s sign (Walker) and
Wrist sign (Steinberg Sign) are positive.
Her chest wall is suggestive of pectus
excavatum.
According to revised Ghent Criteria,
Systemic calculated from above features
was 8 and an aortic root Z score of 2.8, a
diagnosis of Marfan Syndrome was made,
with her HRCT Chest showing changes of
empyma and cavity with granulomas
suggestive of tuberculosis.
She was put on injectable higher
antibiotics, started on Category II AntiKoch’s’ treatment and discharged on oral
antibiotics with close follow up. Her only
child a son was screened for tuberculosis
as well as features of Marfan syndrome,
both of which were negative.
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2. Lacro RV, Dietz HC, Wruck LM,
DISCUSSION
Marfan syndrome is associated with an
Bradley TJ, et al. Rationale and
array of systemic involvement. Ocular
Design of a Randomized Clinical Trial
manifestations
are
subtle,
skeletal
of Beta Blocker Therapy (Atenolol)
manifestations are obvious on observations
vs. Angiotensin II Receptor Blocker
and cardiac manifestations are life
Therapy (Losartan) in Individuals
threatening. Ghent’s (old) criteria did not
with Marfan Syndrome. Am Heart J.
have any major pulmonary criteria, only
2007 October; 154(4):624–631.
minor, when it came to systemic
3. John C S Dean. Marfan syndrome:
involvement and scoring.11 This shows
clinical diagnosis and management.
that pulmonary manifestations are
Eur J Med Genet. 2007 May; 15:724–
underscored by other system involvement.
733
Recurrent and severe respiratory infections
4. Krause KJ. Marfan syndrome:
are something which has not been in
literature review of mortality studies. J
limelight when it comes to pulmonary
Insur Med. 2000; 32(2):79-88.
complications. A patient with Marfan
5. Rangasetty UC, Karnath BM. Clinical
syndrome has all possible reasons to
signs of Marfan syndrome. Hosp
develop recurrent infections, these include:
physician 2006 April; 42(4):33-38.
a poor skeletal structure of spine
6. Dean JC. Management of Marfan
syndrome. Heart 2002; 88(1):97–103.
(abnormal spine curvature; scoliosis > 20⁰,
7. Collod-Béroud G, Boileau C. Marfan
spondylolisthesis, pectus excavatum or
syndrome in the third Millennium. Eur
carinatum), with pulmonary blebs and
J Hum Genet. 2002 November;
emphysematous chest and occasionally
10(11):673–681.
development of bronchiastasis. With all
8. Genetics, clinical features, and
these reasons, the lungs become a perfect
diagnosis of Marfan syndrome and
candidate for the organisms to flourish. So,
related
disorders.
a lot of attention has to be paid when a
“www.uptodate.com”http://www.upto
Marfan syndrome patient presents with
date.com/contents/genetics-clinicalany respiratory signs and symptoms. Any
features-and-diagnosis-of-marfanupper respiratory tract infections should be
syndrome-and-relatedaggressively treated and special care and
disorders?source=search_result&searc
follow up is required for such patients.
h=Marfan+Syndrome&selectedTitle=
This also means that before any
1~107
procedures
or
surgeries,
adequate
9.
Lungs
in
Marfan
Syndrome
respiratory care should be taken including
www.marfan.org
antibiotics and physiotherapy.
https://www.marfan.org/about/bodyREFERENCES:
systems/lungs
1. McKusick VA. Heritable disorders of
10. Marfan
Syndrome:
Clinial
connective tissue. 3rd ed. St Louis:
Presentation
www.medscape.com
CV Mosby, 1966.
http://emedicine.medscape.com/article
/1258926-clinical#b4
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Int J Res Med. 2016; 5(3); 175-177
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