ARTICLE IN PRESS

doi:10.1510/icvts.2004.090811

Interactive CardioVascular and Thoracic Surgery 4 (2005) 1517

www.icvts.org

Case report - Congenital

Cyanosis in atrial septal defect without pulmonary hypertension:

a case of Platypnea-orthodeoxya syndrome
Isidoro Di Bella*, Stefano Pasquino, Uberto Da Col, Temistocle Ragni
Department of Cardiac Surgery, Silvestrini Hospital, Perugia, Italy
Received 7 May 2004; received in revised form 10 September 2004; accepted 20 September 2004

Abstract
Cyanosis in atrial septal defect typically occurs when pulmonary hypertension develops. Platypnea-orthodeoxya is an uncommon syndrome,
still under debate, characterized by breathlesness and arterial oxygen desaturation exacerbated in the upright position. An interatrial
communication is a common finding in this syndrome, but the absence of a right to left pressure gradient complicates the physiopathological
picture. To explain the right to left shunt, it is generally advocated a concomitant condition that alterates the sterical relationship between
inferior vena cava orifice and the atrial septal defect. A case of a 58-year-old male with platypnea-orthodeoxya syndrome related to a
fenestrated redundant interatrial septum without any additional pathologic condition is reported. Possibly, this isolated anatomical
abnormality could lead to a right to left shunt in the absence of other coexisting predisposing factors. It is reasonable to hypothesize the
septum secundum bulging like a spinnaker into the right atrium, so that it deviates the inferior vena cava venous blood towards the left
atrium. Echocardiographic evaluation is mandatory to achieve a correct diagnosis and to decide the therapeutic strategy.
2005 Published by European Association for Cardio-Thoracic Surgery. All rights reserved.
Keywords: Atrial septal defect; Intracardiac shunt; Cyanosis

1. Introduction
Hypoxaemia in atrial septal defect (ASD) is generally
related to a right to left shunt due to pulmonary vascular
disease. Platypnea-orthodeoxya syndrome is a rare condition characterized by breatlessness exacerbated by the
upright position and arterial oxygen desaturation worsened
in the upright position. This clinical condition was first
reported by Burchell w1x and is associated with atrial septal
defect and right to left shunt in spite of normal right heart
pressures. It has been found to be associated with elongated ascending aorta, pneumonectomy, liver cyrrhosis, and
recurrent pulmonary embolism w2x. We report a case of
Platypnea-orthodeoxya syndrome in which a redundant and
fenestrated atrial septum was found and it could be
involved in the pathogenesis of this syndrome. No additional
pathological findings were observed.
2. Case report
A 58-year-old male was admitted to our institution for
chronic hypoxaemia with cyanosis, secondary polyglobulia
(hematocrit 50%, hemoglobin 20.5 mgydl, red cell count
6.44=106 uyl), clubbing, peripheral arterial blood satura*Corresponding author: Divisione di Cardiochirurgia, Ospedale Silvestrini,
S. Andrea delle fratte, Perugia, Italy. Tel.: q39-75-5782213; fax: q39-755782214.
E-mail address: isidorodibella@yahoo.it (I. Di Bella).
2005 Published by European Association for Cardio-Thoracic Surgery

tion 80% in clinostatism decreasing to 67% in orthostatism,

and a recent transitory ischaemic attack.
The chest X-ray was normal and the ECG showed first
degree atrio-ventricular block and left bundle branch block.
Transesophageal echocardiography excluded anomalous
venous returns and showed a redundant atrial septum
without evident right to left shunt. Injection of saline
solution into the inferior vena cava at color-doppler evaluation revealed light right to left echocontrast migration.
Haemodinamic evaluation showed right to left shunt (QPy
QSs0.89) without pulmonary hypertension (pulmonary
artery pressure 28y13 mmHg, mean 18 mmHg), right atrial
pressure 9 mmHg, left atrial pressure 11 mmHg and arteriolar pulmonary resistance 1.49 Wood Units. Oxygen saturation was 75% in inferior vena cava, 72% in the right
atrium, 97% in the pulmonary veins and 87.6% in the aorta.
Intraoperatory transesophageal echocardiography confirmed the presence of a redundant septum (Fig. 1a). The
surgical procedure was performed on standard cardiopulmonary bypass under cold blood cardioplegic arrest. After
opening the right atrium a clearly redundant thin, hyaline
septum secundum was found. It was characterized by
several small holes in the upper portion (Chiari network,
Fig. 1b), while the lower area presented a large defect
located just above the orifice of the inferior vena cava
(Fig. 2). The Eustachian valve was normal. After removing
the excess of interatrial septum tissue the defect was
closed by a dacron patch.

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I. Di Bella et al. / Interactive CardioVascular and Thoracic Surgery 4 (2005) 1517

After the surgical procedure cyanosis disappeared and

arterial oxygen saturation was 100% undependently on
posture. The postoperative course was uneventful and the
patient was discharged home on day seven.
3. Discussion
Right to left shunt in fenestrated atrial septum aneurysm
without pulmonary hypertension is a rare condition with
relevant complications such as chronic cyanosis and paradoxic systemic embolism. Platypnea-orthodeoxya is even a
rare syndrome whose underlying physiopathologic bases are
still under investigation. Approximately 50 years after its
first description, in 1949, this syndrome was identified on
only about forty occasions w3x. Currently, there is a renewed
interest about this syndrome concerning the theoretical
explanations of its pathogenesis. There seems to be agreement concerning this syndrome that it is a result of a
combination of different pathological conditions w4,5x.
Cheng and colleagues w4x categorize these conditions into
two groups: anatomical and functional. The first is the
presence of an atrial septal defect. The functional is
related to the effect of some components that produce a

Fig. 1. (a) Intraoperatory TEE showing the redundant interatrial septum. LA:
left atrium, RA: right atrium, Ao: aortic valve, (b) intraoperatory view showing the fenestrations in the cephalic portion of the interatrial septum (Chiari
network).

Fig. 2. Intraoperatory view of the opened right atrium showing the redundant
interatrial septum (IAS), which deranges venous blood (arrow) from the inferior vena cava (IVC) to the left atrium.

deformity of the interatrial septum such as aortic elongationyaneurysm, pneumonectomyylobectomy or loculated

pericardial effusion resulting in a redirection of shunt flow
in the upright posture. None of these functional conditions
were present in our case.
Godart and colleagues w6x described two theories to
explain right to left shunt with normal pulmonary pressure.
The first was related to the presence of a right to left
pressure gradient correlated with some clinical conditions
like right atrial myxoma, right ventricular infarction or
mechanical ventilations. The second was related to the
presence of a redundant atrial septum displaced towards
the horizontal plane with atrial septal defect and the overdeveloped Eustachian valve leading to preferential drainage
of the inferior vena cava blood flow to the left atrium.
Unfortunately, the underlying anatomical pattern could not
be demonstrated in this report because the atrial defects
were closed percutaneously.
Thomas and colleagues w7x described a case of plathypneaorthodeoxya where the right to left shunt was realized by
the presence of a redundant septum secundum associated
with an over-developed Eustachian valve.
In the case reported here, the only anatomical abnormal
pattern we found was an aneurismal and fenestrated atrial
septum with a large defect lying just in front and above
the orifice of the inferior vena cava; the Eustachian valve
was judged normal. So this single abnormality was enough
to cause the deranging of the inferior vena cava desaturated venous blood flow to the left heart and thus to the
systemic circulation.
Upright posture, probably by pressure gradient, could
increase the stretching of the interatrial septum that could
assume a spinnaker aspect into the right atrium thus
increasing the blood flow to the left direction.
In conclusion, in the presence of cyanosis in atrial septal
defect without pulmonary hypertention, a platypnea-orthodeoxya syndrome has to be investigated. If confirmed, it is
mandatory to exclude coexisting clinical conditions but
should be considered that a single anatomical lesion can
be the origin of this complex clinical pattern. A correct
diagnosis and surgical treatment can be achieved by matching the morphological and functional data obtained from
echocardiograpy and cardiac catheterization.

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I. Di Bella et al. / Interactive CardioVascular and Thoracic Surgery 4 (2005) 1517

References
w1x Burchell HB, Helmholz HF Jr, Wood EH. Reflex orthostatic dyspnea
associated with pulmonary hypotension. Am J Physiol 1949;159:5634.
w2x Acharya SS, Kartan R. A case of orthodeoxia caused by an atrial septal
aneurysm. Chest 2000;118(3):8714.
w3x Cheng TO. Platypnea-orthodeoxya syndrome: etiology, differential diagnosis, and management. Cathet Cardiovasc Interv 1999;47:646.
w4x Cheng TO. Mechanisms of platypnea-orthodeoxia: what causes water to
flow uphill? Circulation 2002;105(6):47.
w5x Godart F, Rey C. Platypnea-Orthodeoxya syndrome. A probably underestimated syndrome? Chest 2001;119:16245.
w6x Godart F, Rey C, Prat A, Vincentelli A, Chmait A, Francart C, Porte H.
Atrial right-to-left shunting causing severe hypoxaemia despite normal
right-sided pressures. Report of 11 consecutive cases corrected by
percutaneous closure. Eur Heart J 2000;21(6):4839.
w7x Thomas JD, Tabakin BS, Ittleman FP. Atrial septal defect with right to
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1987;9(1):2214.

Appendix A. ICVTS online discussion

Author: Sameh Sersar (Mansoura University Egypt)
eComment: I have a few ideas to be mentioned in such a case.
Platypnea is breathlessness in the upright position and orthodeoxia is arterial
desaturation in the upright position. Patients should have confirmation of
orthostatic desaturation by erect and supine pulse oximetry. Arterial blood
gases performed on room air showed a significant hypoxaemia (PO2 68 mmHg)
with an alveolar to arterial gradient of greater than 40 mmHg. Pulmonary
ventilation perfusion scan, non-invasive peripheral vascular studies of the
lower limb venous system, and pulmonary function tests were normal.
Platypnea-orthodeoxia syndrome w1x. Right-to-left shunting through a patent
foreman ovale (PFO) is mostly caused by increased right arterial pressure
(massive pulmonary embolism or primary pulmonary hypertension). Another
major cause is an abnormal anatomical relationship with a change in the
blood flow from the inferior caval vein directed to the PFO. This condition

17

may be seen after pneumonectomy w2x. Right-to-left shunting across a PFO

in the absence of lung and heart disease has been reported. Recently, Faller
et al w3x described a right-to-left shunt through a PFO in association with
both an atrial septum aneurysm and a thoracic aorta aneurysm. Sorrentino
et al. w4x described a case of platypnea and orthodeoxia caused by right-toleft shunting across a PFO in a patient with normal pulmonary artery
pressure and normal heart function, versus the upright position. Placement
of a CardioSEALTM with a percutaneous catheter technique is presently the
treatment of choice for this disease w5x. PFO is the commonest congenital
cardiac anomaly in the adult affecting more than 30% of people and is the
most common cause of cryptogenic cerebral infarction. What about prophylactic maze recommended by some in cases of ASD closure in adult patients
which carries a 50% risk of AF w6x?
References
w1x Kubler P, Gibbs H, Garrahy P. Platypnoea-orthodeoxia syndrome. Heart
2000;83:2213.
w2x Rossum van P, Plokker HWM, Ascoop CAPL. Breathlessness and hypoxaemia in the upright position after right pneumonectomy. Eur Heart J 1988;
9:12303.
w3x Faller M, Kessler R, Chaouat A, Ehrhart M, Petit H, Weitzenblum E.
Platypnea-orthodeoxia syndrome related to an aortic aneurysm combined
with an aneurysm of the atrial septum. Chest 2000;118:5537.
w4x Sorrentino M, Resnekov L. Patent foreman ovale associated with platypnea and orthodeoxia. Chest 1991;100:11578.
w5x Grutters JC, Berg JMT, van der Zeijden J, Jaarsma W, Ernst JMPG,
Westermann CJJ. Patent foreman ovale causing postion-dependent
shunting in a patient, when laying down her corset. Eur Respir J
2001;18:7313.
w6x Bonchek LI, Burlingame MW, Worley SJ, Vazales BE, Lundy EF. Cox/maze
procedure for atrial septal defect with atrial fibrillation: management
strategies. Ann Thorac Surg 1993;55:60710.

Author: Isidoro Di Bella (Azienda Ospedaliera di Perugia, Italy)

eResponse: These comments add further information with relative
references. In particular we find it a good option to be the prophylactic
approach to atrial fibrillation specifying our preference for the radiofrequency or cryoablation.