SPC365

Look beyond valvular heart disease: antiphospholipid syndrome-related aortic regurgitation

Session: Sessão Speaker’s Corner - Casos clínicos desafiantes… em Cardiologia – 2
Speaker: Inês Fialho

Congress: CPC 2022
Topic: P. Other
Theme: 37. Miscellanea
Subtheme: ---
Session Type: Sessão de Casos Clínicos
FP Number: ---
Authors: Inês Fialho; Gonçalo Borges de Almeida; Mariana Passos; Carolina Mateus; Joana Lopes; Marco Beringuilho; João Baltazar Ferreira; Frederico Baptista; David Roque; Daniel Faria; José Morais; António Freitas; Carlos Morais

<p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong><span style="font-size:11pt"><span style="color:black">Background:</span></span></strong><span style="font-size:11pt"><span style="color:black"> Antiphospholipid syndrome is a systemic autoimmune disease characterized by arterial and venous thrombosis. Heart valve disease is the most common cardiac manifestation.</span></span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong><span style="font-size:11pt"><span style="color:black">Case report:</span></span></strong><span style="font-size:11pt"><span style="color:black"> A 46-year-old woman with medical history of unspecified thrombocytopenia and Raynaud phenomenon presented with a 3-week history of fatigue, shortness of breath, orthopnea, and peripheral edema. On physical examination she presented signs of volume overload and cyanotic fingers. She also presented periods of altered mental status, with drowsiness and agitation. An early-diastolic aortic murmur was detected on physical exam. Blood tests revealed </span></span><span style="font-size:11pt"><span style="color:black">thrombocytopenia (37,000 x 10<sup>9</sup> U/L) and an increased NT-proBNP level (37,000 pg/mL).</span></span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><span style="font-size:11pt"><span style="color:black">Transthoracic echocardiogram was performed and revealed left ventricle (LV) eccentric hypertrophy (end-diastolic LV volume index: 134 mL/m<sup>2</sup>, LV mass index: 125g/m<sup>2</sup>, relative wall thickness: 0.29), severe systolic dysfunction (LV ejection fraction 30%, global longitudinal strain -8%), and a severe aortic regurgitation (AR). On transesophageal echocardiogram it was possible see thickening and fibrotic retraction of aortic cuspids with a central coaptation defect (Figure 1, panel A), and a central regurgitation jet. AR met all the severity criteria (hemi-pressure time of 270 ms, holodiastolic flow reversal in the thoracic descending aorta with end-diastolic velocity &gt;20 cm/s). The aortic root and ascending aorta were not dilated.</span></span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><span style="font-size:11pt"><span style="color:black">Digital cyanosis evolved to necrosis (Figure 1, panel B), and capillaroscopy findings suggested a vaso-occlusive phenomenon. </span></span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><span style="font-size:11pt"><span style="color:black">A brain magnetic resonance imaging (MRI) was performed to clarify the altered mental status and behavioral change. Diffusion-weighted imaging (DWI) acquisition showed two acute ischemic lesions in the right frontal lobe (Figure 1, panel C [arrow]) and fluid-attenuation inversion-recovery (FLAIR) imaging showed bilateral ischemic sequelae (Figure 1, panel D [arrowhead]). Angio-MRI excluded vasculitis of the central nervous system. </span></span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><span style="font-size:11pt"><span style="color:black">The characteristic valve lesions, the presence of arterial thrombotic events in multiple locations, thrombocytopenia, and Raynaud phenomenon raised the suspicion of antiphospholipid syndrome (APLS). The diagnosis was confirmed through a positive lupus anticoagulant test, and warfarin was initiated. Heart failure (HF)&nbsp;symptoms improved under diuretic therapy and the patient was started on guideline-directed medical therapy. She was also referred for surgical aortic valve replacement. On follow-up she has been in New York Heart Association class II, without new thombotic events or HF or cardiovascular hospitalizations.</span></span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:medium"><span style="font-family:Calibri,sans-serif"><span style="color:#000000"><strong><span style="font-size:11pt"><span style="color:black">Conclusion:</span></span></strong><span style="font-size:11pt"><span style="color:black"> This case illustrates a less common APLS presentation and underlines the need for an integrated diagnostic approach in systemic diseases with cardiovascular manifestations.</span></span></span></span></span></p>