Platypnea-Orthodeoxia Syndrome Causing Positional Dyspnea and Arterial Desaturation in an Elderly Woman: A Case Report

A 72-years-old woman was admitted to the Emergency Department due to acute stroke in April 2022. Some days later the patient developed acute respiratory failure with oxygen arterial desaturation (SpO2 <80%). Interestingly, she experienced deep hypoxia when she was in the orthostatic position, with partial resolution in the supine position, thus necessitating continuous oxygen therapy. Her pertinent medical history included hypertension for which she was taking valsartan 80 mg daily and bisoprolol 2.5 mg daily, obstructive sleep apnea syndrome under treatment with nocturne continuous positive airway pressure, thyroidectomy for multinodular goiter in replacement therapy with levothyroxine 100 mcg daily, and anxiousdepressive syndrome for which she was taking trazodone 75 mg daily and escitalopram 10 mg daily. Given her presentation, our top differential diagnosis included acute pulmonary embolism, pneumonia, Sars-CoV-2 infection, and platypnea-orthodeoxia syndrome. The patient was then admitted to the Pneumology Department, where she underwent computed tomography angiography, which was negative for acute pulmonary embolism and pneumonia, and two SARS-CoV-2 nasal swabs, which were both negative. The transcranial Doppler showed a high-grade shunt (curtain effect). The transesophageal echocardiography with bubble test showed a lipomatous and aneurismatic interatrial septum with a massive right-to-left shunt through a patent foramen ovale (PFO) during the Valsalva maneuver. In the absence of other obvious cause of the positional desaturation and hypoxia, a diagnosis of platypnea-orthodeoxia syndrome was made. Platypnea-orthodeoxia syndrome is a rare clinical condition difficult to diagnose. However, it represents a potentially reversible cause of positional dyspnea and arterial desaturation. The patient then underwent percutaneous PFO closure with the Gore Septal Occluder 30/30 mm (W.L. Gore and Associates, Inc.) through intracardiac echocardiography guidance without any residual shunt. Although unfavorable anatomical features were present (atrial septal aneurism and lipomatous septum), the procedure was straightforward and without complication. The oxygen saturation on pulse oximeter, which was 91% in supine position with oxygen therapy with FiO2 60% during the procedure, rapidly became 97% soon after the placement of the prosthesis. The patient then experienced relief of the dyspnea and the oxygen therapy was stopped. The clinical follow-up performed three weeks later showed an asymptomatic patient with no limitation of daily physical activity.

MANAGEMENT OF REFRACTORY SYMPTOMATIC PREMATURE VENTRICULAR CONTRACTIONS IN A PATIENT WITH LOUIS-DIETZ SYNDROME TYPE 3, EHLERS-DANLOS SYNDROME, AND SYSTEMIC LUPUS ERYTHEMATOSUS

Background: Louis-Dietz syndrome (LDS) Type 3 is a rare disorder caused by an autosomal-dominant mutation in SMAD-3, altering the TGF-β pathway. LDS Type 3 typically manifests as aortic aneurysms and early-onset osteoarthritis, however other dermatologic, cardiovascular, and skeletal abnormalities have been reported. Case: A 51-year-old woman was referred to the cardiology clinic for episodes of palpitations, syncope, chest pain, and shortness of breath during the COVID-19 pandemic. She had a history of congestive heart failure, cardiomyopathy, patent foramen ovale, atrial septal aneurysm, pre-COVID myocarditis, mitral valve prolapse, mitral regurgitation, and pericarditis. She also has a pertinent medical history of hypermobile Ehlers-Danlos syndrome (hEDS) and systemic lupus erythematosus (SLE). Her family and social history were remarkable for a daughter with SLE. Cardiopulmonary and general physical exams were remarkable for hypermobility. Evaluation with an ECG and Holter monitor showed normal sinus rhythm with unifocal premature ventricular contractions (PVCs) that correlated with her symptoms. Decision-making: The patient was initially managed un-successfully with beta and calcium channel blockers. Cardiac ablation was subsequently performed on a left ventricular septal focus with remote magnetic navigation using the Niobe system from Stereotaxis inc. (due to its low risk for cardiac perforation). At 6 months follow up, the patient exhibited an increase in left ventricular ejection fraction from 40-50% to 55-60%, fewer symptoms, and fewer PVCs. She was later diagnosed with a right internal carotid artery aneurysm that prompted genetic testing that was positive for LDS Type 3. Conclusion: This patient’s unique combination of illnesses required a multidisciplinary team for management. The Stereotaxis robotic system safely and successfully treated the patient’s PVCs and resulted in improvement of left ventricular function. Due to previous reports of arrhythmias associated with these connective tissue disorders, additional studies are necessary to understand the role of the SMAD-3 mutation, EDS, and SLE in contributing to arrhythmogenicity.

Platypnea-orthodeoxia syndrome years after acute pulmonary embolism: Two consecutive cases

Platypnea-Orthodeoxia syndrome (POS) is a rare condition in which dyspnoea and arterial oxygen desaturation are present in the upright position, while in the supine position, they are alleviated. It is observed in the presence of an anatomical (intra-or extracardiac) communication between the right and left heart causing a right-to-left shunt. POS is most frequently caused by a patent foramen ovale (PFO) and usually, the clinical assessment and a transthoracic echocardiograms with bubble study are enough to reach the diagnosis. The only possible treatment of POS is the percutaneous closure of the defect. We describe two cases of POS due to a PFO which manifested itself years after an episode of acute pulmonary embolism (PE), a finding never reported to date in the literature. Few cases describe the relationship between PE and POS, but these conditions may be more closely related than we currently think.