Elmer ress Case Report J Med Cases. 2016;7(2):54-57

Platypnea-Orthodeoxia Syndrome With and Ectatic Aortic Root: A Case Report and Review of the Literature

Margarida Carvalhoa, c, Jorge Almeidab, Goncalo Rochab, Edite Braza, Joana Urbanoa, Raquel Mesquitaa, Sofia Moreira-Silvaa

Abstract es of POS [1, 3, 4], the most common etiology is cardiac and related to an interatrial communication without constant right- Platypnea-orthodeoxia syndrome (POS) is a rare and underdiag- to-left (R-L) pressure gradient but with an R-L shunt that oc- nosed disease characterized by dyspnea in the upright position curs preferably in the upright position [5]. (platypnea) with simultaneous (orthodeoxia) that is re- We present a case of POS associated with an occult patent lieved by recumbency. The physiopathological mechanisms involved foramen ovale (PFO) and an ectatic aorta followed by a review are mediated by intracardiac shunts, pulmonary arteriovenous shunts of the literature. or ventilation/perfusion mismatch. When POS is caused by a cardiac pathology, there is an anatomical (interatrial communication) and a functional component (as a dilated aorta or pneumectomy) working Case Report together to cause a right to left shunt without a constant right to left pressure gradient. Diagnosis is suspected through pulse oximetry An 87-year-old woman was admitted to our emergency medi- verifying orthodeoxia. Confirmation usually is made by transesopha- cine department complaining of severe dyspnea within the geal echocardiography with bubble study to visualize the shunt. Per- last 3 h. She denied , production or fever. On cutaneous closure of the shunt is effective in most cases of cardiac physical examination, her blood pressure was 130/56 mm POS. We report a case of an 87-year-old woman with POS related to Hg, pulse was 79 beats per minute and respiration rate was a patent foramen ovale and an ectatic aorta followed by a review of 32 breaths per minute. Pulmonary was clear. Car- the literature. diac examination revealed a soft 2/6 systolic ejection murmur along the left sternal border. The oxygen saturation was 87% Keywords: Platypnea-orthodeoxia syndrome; Patent foramen ovale; at room air. Arterial blood gas analysis (ABG) at Atrial septal defect; Aortic diseases room air showed pH 7.55, pCO2 23 mm Hg, pO2 46 mm Hg. With a high flow mask, her oxygen saturation improved to 91%. Analytic study showed no relevant changes. Coagulation study was normal. Chest roentgenogram revealed an appar- Introduction ent dilated aorta with clear lung fields. Electrocardiogram was in sinus rhythm without any other electrical changes. Chest Platypnea-orthodeoxia syndrome (POS) is a rare condition computed tomography (CT) and pulmonary CT angiography characterized by dyspnea in the upright position (platypnea) showed no parenchymal or vascular problem. She was admit- that is relieved by recumbency. Simultaneously, a dramatic de- ted to our Internal Medicine Intermediate Care Unit for further crease in arterial blood oxygen saturation in a sitting or stand- evaluation. ing position is easily observed and related to a simultaneous Her past medical history was significant for a pulmonary change in arterial blood gas sample (orthodeoxia) [1, 2]. embolism 3 years ago. At that time, the chest CT with angi- Although pulmonary or hepatic diseases may be the caus- ography showed a central bilateral and the transthoracic echocardiography revealed right ventricular dilatation and dysfunction. She was submitted to thrombolysis Manuscript accepted for publication January 11, 2016 with subsequent resolution of hypoxemia. Some months after this event, she was admitted to our In- aInternal Medicine Department, Hospital Sao Joao, Alameda Professor Her- ternal Medicine Department due to pyelonephritis. During her nani Monteiro, 4200-319 Porto, Portugal b stay, frequent periods of dyspnea and desaturation with poor Intermediate Care Unit, Internal Medicine Department, Hospital Sao Joao, response to oxygen therapy were noticed, which prompted fur- Alameda Professor Hernani Monteiro, 4200-319 Porto, Portugal cCorresponding Author: Margarida Carvalho, Alameda Professor Hernani ther evaluation. Ventilation-perfusion scan did not show any Monteiro, 4200-319 Porto, Portugal. Email: [email protected] perfusion amputation. Chest CT showed some bronchiectasis and fibrotic striatae in both pulmonary bases, without- inter doi: http://dx.doi.org/10.14740/jmc2414w stitial lung disease. Pulmonary function tests and electromyo-

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Table 1. ABG Collected With the Patient in Different Positions Discussion Supine position Sitting position This syndrome was first reported in 1949 by Burchell in a case PaO (mm Hg) 83.5 56.4 2 of intrathoracic arterial venous shunt [6]. Later, in 1969 and Oxygen saturation (%) 98 88 1976, Altman and Robin respectively, used the terms platyp-

O2 concentration 0.5 0.5 nea-orthodeoxia to describe a syndrome, at this time, mostly in patients with hepatic or pulmonary diseases [7, 8]. It was only in 1984 that Seward and colleagues reported a series of pa- graphy were normal. Transthoracic echocardiography showed tients with POS related with interatrial communications with an aneurysmatic interatrial septum without apparent interatrial R-L shunts without pulmonary hypertension [2]. communication, no pulmonary hypertension and normal bi- There are three known causes for POS, namely, cardiac, pul- ventricular function. monary and hepatic ones. The physiopathological mechanisms Chronic hypoxia was assumed to be probably due to pre- involved are mediated by intracardiac shunts, pulmonary arte- vious pulmonary thromboembolism. She was discharged with riovenous shunts and ventilation/perfusion mismatch [3, 4, 9]. domiciliary oxygen therapy and oriented to pneumology out- When POS is caused by a cardiac disease, there is an ana- patient consult. tomical and functional component working together to cause When we first saw the patient in our Intermediate Care an R-L shunt without a constant R-L pressure gradient. So, Unit, we noticed the symptoms appeared to worsen on moving anatomically, we find an interatrial communication as a PFO, from supine to erect position. Pulse oximetry showed a de- atrial septal defect (ASD) or an atrial septal aneurysm with crease in the oxygen saturation to less than 80% in the upright septal fenestration. position and an increase to more than 90% in the recumbent Because left atrium pressure is higher than right atrium position. pressure, there is no R-L shunt through a PFO or a small ASD. This worsening was confirmed through ABGs in both po- But, this kind of shunt can occur if we add a functional compo- sitions, revealing marked orthostatic desaturation (Table 1). nent that inverts the flow through the shunt. This pattern was consistent with platypnea-orthodeoxia. A transient pressure elevation in the right atrium (hemody- Having the information of the previous two transthoracic namic explanation) induced by physiological maneuvers (pos- echocardiograms, we decided that the best course of action ture change, inspiration, Valsalva maneuver, and cough) [10] was to first exclude an intracardiac shunt. Contrast-enhanced and some diseases (right ventricular myocardial infarction, transthoracic echocardiography with agitated saline in the pulmonary embolism, constrictive pericarditis and pericardial supine and erect position did not show an intracardiac shunt effusion [11-14]) can provide this functional premise. but indicated a possible extracardiac R-L shunt. This led us to In the same way, some anatomical distortions can change make a new chest CT with angiography in a venous and an ar- the blood flow direction through the shunt (flow phenomenon) terial phase to exclude intrapulmonary shunts. Again, the exam like in conditions such as emphysema, pneumonectomy, ky- was negative for shunts but revealed an aneurysmatic aortic phoscoliosis and aortic aneurysm or elongation [1, 4, 14]. root (44 mm) already present in previous chest CTs. In the presence of this last condition, orthostatism could At this point, we had a patient with POS, without liver stretch the interatrial communication, augmenting the flow disease, significant pulmonary disease or apparent intracardiac through the shunt or it could displace the atrial septum towards shunt. the horizontal position directing the blood flow from the infe- Keeping in mind the aneurysmatic interatrial septum and rior vena cava to the atrial septum, thereby extending the shunt a transthoracic echocardiogram with agitated saline suggest- [1, 9, 14, 15]. ing the presence of a shunt, we decided to do a transesopha- PFO is present in about 25-30% of healthy individuals geal echocardiography that showed an aneurysmatic interatrial [16] but is normally asymptomatic. In our patient, PFO was septum with phasic protrusion to the left atria, associated to accompanied by an elongated, ectatic thoracic aorta and ky- a PFO with a low magnitude left-to-right shunt. The inferior phoscoliosis. Because aortic root dilatation is a progressive vena cava flux was turbulent and directed to the atrial septum. and age-dependent process, this patient just developed symp- We could not confirm an inversion of the shunt due to poor toms of POS much latter in her life. collaboration of patients in a Valsalva maneuver. Several mechanisms have been proposed to explain how We proceeded to a cardiac catheterization that showed an ectatic aorta induces POS. Such an enlargement seems to normal pulmonary artery pressure (15/6 mm Hg) and normal be able to alter atrial septal geometry promoting a more direct right atrial pressure (5 mm Hg). pathway for the blood to flow from the vena cava to the in- The patient’s PFO was closed percutaneously using a 22 teratrial communication or making the interatrial septum more mm septal occluder device placed in the interatrial septum. A mobile and permeable if there is an underlying defect [14, 15]. post-procedure echocardiographic bubble study was negative Even though this article is not focused on the non-cardiac for shunting. causes of POS, we are going to make a brief reference to pul- The patient’s dyspnea immediately resolved. Her oxygen monary arteriovenous shunts and ventilation/perfusion mis- saturations on room air in the upright position improved to match as physiopathological mechanisms involved in pulmo- more than 94% and she was discharged completely asympto- nary and hepatic causes. matic. The presence of pulmonary arteriovenous shunts is anoth-

Articles © The authors | Journal compilation © J Med Cases and Elmer Press Inc™ | www.journalmc.org 55 Platypnea-Orthodeoxia Syndrome J Med Cases. 2016;7(2):54-57 er mechanism behind POS and we can find it, for example, in now EC, 3rd, Reeder GS, Piehler JM, et al. Platypnea- patients with pulmonary arteriovenous malformations/fistulae. orthodeoxia: clinical profile, diagnostic workup, man- Blood passes through pulmonary arteriovenous shunts without agement, and report of seven cases. Mayo Clin Proc. being oxygenated in the lungs. When the patient is in the up- 1984;59(4):221-231. right position, gravity increases blood flow in the lung bases. 3. Knapper JT, Schultz J, Das G, Sperling LS. Cardiac Usually there are a great number of shunts in the lower lung platypnea-orthodeoxia syndrome: an often unrecognized fields, so the upright posture will increase the arteriovenous malady. Clin Cardiol. 2014;37(10):645-649. shunt, with consequent POS [4, 9]. 4. Rodrigues P, Palma P, Sousa-Pereira L. Platypnea-ortho- On the other hand, in the hepatopulmonary syndrome, deoxia syndrome in review: defining a new disease? Car- intrapulmonary vascular dilatation (IPVD) is the structural diology. 2012;123(1):15-23. abnormality behind reduced arterial oxygenation in the set- 5. Strunk BL, Cheitlin MD, Stulbarg MS, Schiller NB. ting of liver disease. IPVD increases pulmonary blood flow Right-to-left interatrial shunting through a patent fora- without changes in alveolar ventilation inducing a ventilation- men ovale despite normal intracardiac pressures. Am J perfusion mismatch. At the same time, there is an increased Cardiol. 1987;60(4):413-415. passage of mixed venous blood, through intrapulmonary 6. Burchell HB, Helmholz HFJ, Wood EH. Reflex orthostat- shunts, into the pulmonary . IPVD is more common in ic dyspnea associated with pulmonary hypotension. Am J the lung bases that normally are already overperfused (zone Physiol. 1949;159(5):63-564. three phenomenon), especially in the upright posture, result- 7. Altman M, Robin ED. Platypnea (diffuse zone I phenom- ing in an exacerbation of the ventilation-perfusion mismatch enon?). N Engl J Med. 1969;281(24):1347-1348. as well as in arteriovenous pulmonary shunt and consequent 8. Robin ED, Laman D, Horn BR, Theodore J. Platypnea re- POS [17, 18]. lated to orthodeoxia caused by true vascular lung shunts. POS is in fact a rare disease, but probably underestimated, N Engl J Med. 1976;294(17):941-943. and its diagnosis may be particularly difficult unless there is 9. Chen GP, Goldberg SL, Gill EA, Jr. Patent foramen ovale a high index of suspicion. The key to the diagnosis is a good and the platypnea-orthodeoxia syndrome. Cardiol Clin. clinical history and physical exam with relatively simple tests 2005;23(1):85-89. (comparison of pulse oximetry and arterial blood gas analyses 10. 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Management of conclusive and even misdirected our study to an intra-pulmo- platypnea-orthodeoxia syndrome by transcatheter closure nary shunt. This false negative result with saline contrast has of atrial communication: hemodynamic characteristics, been already described by some authors and is a relevant pit- clinical and echocardiographic outcome. J Invasive Car- fall to account when trying to diagnose PFO [21]. A contrast diol. 2004;16(10):578-582. tilt-table transesophageal echocardiography in lying and up- 13. Hashimoto M, Okawa Y, Baba H, Nishimura Y, Aoki M. right position may be needed. In some few cases, the shunt was Platypnea-orthodeoxia syndrome combined with con- seen only on Valsalva maneuvers [22, 23]. strictive pericarditis after coronary artery bypass surgery. Percutaneous closure of the intra-atrial communication is J Thorac Cardiovasc Surg. 2006;132(5):1225-1226. very effective as the treatment of choice in most cases. After 14. Bertaux G, Eicher JC, Petit A, Dobsak P, Wolf JE. Ano- the procedure, most patients will have a complete resolution of tomic interaction between the aortic root and the atrial their symptoms and will be able to resume a normal life [12, septum: a prospective echocardiographic study. J Am Soc 24-26]. Echocardiogr. 2007;20(4):409-414. 15. Eicher JC, Bonniaud P, Baudouin N, Petit A, Bertaux G, Donal E, Piechaud JF, et al. Hypoxaemia associated Grant Support with an enlarged aortic root: a new syndrome? Heart. 2005;91(8):1030-1035. No financial support or other assistance was received. 16. Hagen PT, Scholz DG, Edwards WD. Incidence and size of patent foramen ovale during the first 10 decades of life: an autopsy study of 965 normal hearts. Mayo Clin Proc. References 1984;59(1):17-20. 17. Khandaker MH, Knoll BM, Arora AS. 63-year-old man 1. Cheng TO. Platypnea-orthodeoxia syndrome: etiology, with cryptogenic cirrhosis and dyspnea. Mayo Clin Proc. differential diagnosis, and management. 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