This document summarizes a case report of a 14-year-old female patient presenting with cyanosis, dyspnea, palpitations, and hemoptysis. Tests revealed a pulmonary arteriovenous (PAV) fistula connecting her pulmonary artery and vein. PAV fistulas are abnormal direct connections that allow blood to bypass the lungs, sometimes mimicking cardiac conditions. The patient's PAV fistula was located in her left lower lobe and confirmed by pulmonary angiography. She was referred for coil embolization to treat the fistula. PAV fistulas are usually congenital but can also be acquired due to conditions like mitral stenosis or infections. They may cause hypoxemia and paradoxical embol

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ISSN: 0975-2870
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Introduction
Pulmonary arteriovenous (PAV) fistulae are an abnormal
communication between the pulmonary artery and vein
at intrapulmonary level. Although these lesions are not a
common clinical problem, sometimes, they may present
like cyanotic heart diseases. The etiology of this disease
is usually congenital; however, they may be acquired in
certain conditions, such as mitral stenosis, schistosomiasis,
tuberculosis, trauma, and metastatic thyroid carcinoma. Some
patients have hereditary hemorrhagic telangiectasia (HHT)
also known as Rendu-Osler-Weber syndrome; however, in
our case after a meticulous search, no cause was identified.
Case Report
We are presenting a rare case of a 14-year-old female
admitted to our hospital with complaints of having
cyanosis, dyspnea at rest, palpitation, orthopnea, and
two episodes of hemoptysis. She had history from 1 year,
Pulmonary arteriovenous fistula mimicking as
acyanotic heart disease with shunt reversal
Keshri Singh Yadav, Balvir Singh, Mridul Chaturvedi
Department of Medicine, S.N. Medical College, Agra, Uttar Pradesh, India
ABSTRACT
Pulmonary arteriovenous malformations (PAVMs) or pulmonary
arterio venous (PAV) fistula are relatively rare pulmonary vascular
disorders. Although most of the patients are asymptomatic,
PAVMs can cause dyspnea, clubbing, and central cyanosis and is
an important differential diagnosis of common cardiopulmonary
problems, such as hypoxemia and congenital heart diseases with
reversal of shunt. There is a strong association between PAVM and
hereditary hemorrhagic telangiectasia. Chest radiography, contrast
echocardiography, and contrast enhanced computed tomography
are important initial diagnostic tools, but pulmonary angiography
is the gold standard. Therapeutic options include angiographic coil
embolization or balloon occlusion and surgical excision.
Keywords: Hereditary hemorrhagic telangiectasia, pulmonary
arteriovenous malformations, acyanotic heart disease,
pulmonary angiography
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DOI:
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Case Report
without any significant past or family history. There was
no history of cough with expectoration, squatting, fever.
There was no pallor, icterus, lymphadenopathy, or oronasal
telangiectasia.
On general examination, she had central as well as
peripheral cyanosis [Figure 1], clubbing of Grade 2 [Figure
2], bilateral pedal edema, blood pressure 112/52 mm Hg,
pulse rate 146/min, regular, respiratory rate 24/min, and
body mass index 16.8 kg/m2
. On auscultation, there was
bilateral diffuse wheeze present. In cardiovascular system
examination, apex was in the left 5th
intercostal space in
midclavicular line. A grade 2 pansystolic murmur was
present in the left parasternal area. The chest X-ray film
revealed cardiomegaly, with right ventricular hypertrophy
type apex.
On blood examination, Hb 16.5 g/dl; total leukocyte
count 11150/mm3
; platelet count 4.5 lacs/mm3
; aspartate
Address for correspondence:
Dr. Keshri Singh Yadav, Department of Medicine, S.N. Medical College, Agra - 282 002, Uttar Pradesh, India.
E-mail: keshri2005gsvm@gmail.com
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How to cite this article: Yadav KS, Singh B, Chaturvedi M.
Pulmonary arteriovenous fistula mimicking as acyanotic heart disease
with shunt reversal. Med J DY Patil Univ 2016;9:541-3.

3. Yadav, et al.: PAV fistula mimicking as acyanotic heart disease with shunt reversal
542 Medical Journal of Dr. D.Y. Patil University | July-August 2016 | Vol 9 | Issue 4
aminotransferase 69.0 U/L; alanine aminotransferase
120 U/L; serum bilirubin 1.2 mg/dl; serum creatinine
1.2 mg/dl; blood urea 49 mg/dl; sodium 136 mEq/L;
potassium 3.3 mEq/L; HIV, hepatitis B, and hepatitis C
were nonreactive. Urine examination was within normal
limit. Sputum acid-fast Bacilli smears and blood culture
were negative.
Echocardiography showed normal left ventricular
dimension with normal wall motion contractility and
systolic function with dilated coronary sinus; however,
after putting contrast, it appears in the left atrium after 4-6
beats suggesting shunting beyond the cardiac level with no
evidence of dissection, normal pulmonary artery pressure
with mild tricuspid regurgitation. Patient had undergone
pulmonary angiography which revealed left lower lobe
PAV fistula [Figure 3].
After confirmation of diagnosis, the patient was sent to
higher center for coil embolization and patient is not
alright after treatment. The prognosis of patients with
HHT is not as good as for those without HHT. For patients
without HHT, surgery to remove the abnormal vessels
usually has good outcome and the condition is not likely
to return.
Discussion
Although pulmonary arteriovenous malformation (PAVM)
is considered an unusual rare lesion,[1]
cases have been
reported as early as 1897 by Churton.[2]
The diagnosis of
PAVM is a very challenging to physicians. PAVMs are
direct shunts between the smaller pulmonary arteries and
veins. These are lesions in the vasculature that allow blood
to bypass the capillary system, flowing from the high-
pressure system to low pressure system, i.e., arteries to the
veins. The lesions are mostly congenital in nature and are
caused by failure of differentiation of the embryonic vascular
plexus. The incidence of PAVMs is 2-3/100,000 population[3]
with slightly female dominance. The male:female ratio
varies from 1:1.5 to 1.8 in several series.[4]
The age at first
presentation varies from newborn period to 70 years, but
the majority of the cases are diagnosed in the first three
decades.[5,6]
They may be single or multiple and the incidence of
single PAVM varies from 42.0% to 74.0%.[7,8]
Most solitary
PAVMs are seen in bilateral lower lobes, the left lower
lobe being the most common location, followed by right
lower lobe, left upper lobe, right middle lobe, and right
upper lobe.[7,8]
The majority of multiple PAVMs are also
confined to bilateral lower lobes; the incidence of bilateral
PAVMs ranges from 8.0% to 20.0%.[9]
More than 80% of
PAVMs are congenital,[4,7]
the remaining being acquired.
The acquired PAVMs are very rare and are caused by chest
trauma, surgery, cirrhosis of liver, metastatic carcinoma,
and infections. They may present with complications such
as cerebral embolism or brain abscess.[10-13]
The incidence
of PAVMs apparently varies according to the specific gene
alterations.[11]
The genetic etiological linkages to HHT
are located on chromosome 9 (9q 33-34 or OWR-1) in
some families and on chromosome 12 (12q or OWR-2)
in others.[11]
Embolization therapy is the treatment of choice and
indicated in patients with multiple or bilateral PAVMs or
in patients who are poor surgical candidates.
Postcatheterization precautions include hemorrhage,
vascular disruption after balloon dilation, pain, nausea,
vomiting, and arterial or venous obstruction from
thrombosis or spasm.
Figure 1: Central cyanosis Figure 2: Fingers showing clubbing

4. Yadav, et al.: PAV fistula mimicking as acyanotic heart disease with shunt reversal
Medical Journal of Dr. D.Y. Patil University | July-August 2016 | Vol 9 | Issue 4 543
Possible complications include rupture of blood vessels,
tachyarrhythmias, bradyarrhythmias, and vascular
occlusion. Pleuritic chest pain is the most common
complication and is observed in 12% of patients. The pain
usually responds well to analgesics. Radiographic evidence
of pulmonary infarction is observed in 3% of patients. Air
embolism during embolotherapy is suspected in 4.8% of
patients; they developed transient symptoms such as angina,
perioral paresthesias, and bradycardia.[14]
Indications for surgery are progressive PAVM enlargement,
paradoxical embolization, and symptomatic hypoxemia.
The treatment of all PAVMs with feeding vessels of 3 mm
or larger is also recommended. Standard thoracic surgical
techniques, such as ligation of PAVMs, local excision,
segmentectomy, lobectomy or pneumonectomy, have been
performed. Recently, video-assisted thoracoscopic resection
of a small PAVM has been performed.[14]
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
References
1. Khurshid I, Downie GH. Pulmonary arteriovenous malformation.
Postgrad Med J 2002;78:191-7.
2. Churton T. Multiple aneurysms of pulmonary artery. Br Med J
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3. Hodgson CH, Kaye RL. Pulmonary arteriovenous fistula and
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4. Dines DE, Arms RA, Bernatz PE, Gomes MR. Pulmonary
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5. Prager RL, Laws KH, Bender HW Jr. Arteriovenous fistula of
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6. Dines DE, Seward JB, Bernatz PE. Pulmonary arteriovenous
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8. Shumacker HB Jr, Waldhausen JA. Pulmonary arteriovenous
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Pulmonary arteriovenous fistula. Am Surg 1971;37:203-8.
10. Vinay N, Naithani U. Segmentectomy for bilateral pulmonary
arteriovenous fistula with significant right to left shunt – A case
report. Indian J Thorac Cardiovasc Surg 2015;4:311-3.
11. Marchuk DA. The molecular genetics of hereditary hemorrhagic
telangiectasia. Chest 1997;111 6 Suppl:79S-82S.
12. PorteousME,CurtisA,WilliamsO,MarchukD,Bhattacharya SS,
Burn J. Genetic heterogeneity in hereditary haemorrhagic
telangiectasia. J Med Genet 1994;31:925-6.
13. Symbas PN, Goldman M, Erbesfeld MH, Vlasis SE. Pulmonary
arteriovenous fistula, pulmonary artery aneurysm, and other
vascular changes of the lung from penetrating trauma.Ann Surg
1980;191:336-40.
14. Ishikawa Y, Yamanaka K, Nishii T, Fujii K, Rino Y,
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Cardiovasc Surg 2008;56:187-90.
Figure 3: Pulmonary angiography showing shunt in the left lower lung
Clinical importance of pulmonary arteriovenous
malformations
Commentary
Hereditary hemorrhagic telangiectasia (HHT), also known
as Rendu Osler Weber disease, is an inherited multisystem
disorder of the vascular system characterized by recurrent
epistaxis and mucosal telangiectasias.[1,2]
Pulmonary artery
malformations (PAVMs) are common findings and observed
in about 20% of patients with HHT.[1]
These malformations
are direct fistulous connections between the branches
of pulmonary artery and vein without an intervening
capillary bed. Furthermore, these malformations are
known as pulmonary arteriovenous fistulas, pulmonary