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Early-onset atherosclerosis in a patient with Tangier disease: not all that is gold glitters
Session:
Prémio Melhor Caso Clínico
Speaker:
Mariana Silva Brandão
Congress:
CPC 2023
Topic:
P. Other
Theme:
37. Miscellanea
Subtheme:
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Session Type:
Sessão de Prémios
FP Number:
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Authors:
Mariana Brandão; Gualter Santos Silva; Mariana Rocha; Nuno Dias Ferreira; Francisco Sampaio; Alberto Rodrigues; Pedro Braga; Marisa Passos Silva; Ricardo Fontes-Carvalho
Abstract
<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">A 43-year-old woman complained of fatigue and exertional dyspnea. She denied family history of cardiovascular (CV) disease. She presented periorbital xanthomas and a blood pressure differential between upper and lower limbs; neurologic examination showed motor deficits in the left hand and left facial paresis. </span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Her high-density lipoprotein (HDL) cholesterol was undetectable (< 3 mg/dL). Computed tomography angiography excluded aortic coarctation; complex atherosclerosis was noted though, with significant reduction of the vascular lumen throughout the thoracoabdominal aorta. Inflammatory vasculopathy was excluded by positron emission tomography. Transthoracic echocardiogram showed moderate aortic regurgitation and preserved biventricular function. Coronary angiography showed diffuse coronary artery disease (CAD), with significant stenoses in the proximal left anterior descending (LAD) and right coronary arteries; cardiac magnetic resonance showed extensive perfusion defects in these territories. Porcelain aorta deemed surgical approach unviable. Percutaneous revascularization of the LAD lesion was performed; conservative approach was ensued for the remaining CAD.</span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">After few months of improvement, the patient deteriorated. Transoesophageal echo disclosed severe aortic regurgitation (effective regurgitant orifice area 0.42cm<sup>2</sup>, regurgitant volume of 72mL, holodiastolic flow reversal in the descending aorta) and a mildly dilated left ventricle (69mL/m<sup>2</sup>). Percutaneous aortic valve implantation (TAVI) was deemed the only viable treatment; a 23 mm Edwards Sapien 3 Ultra valve was implanted via the right femoral artery, with a good result.</span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Considering the clinical findings, an unmeasurable HDL, and diffuse accelerated atherosclerosis, in the absence of active inflammation, Tangier's disease was suspected, even without the hallmark sign of orange tonsils. Genetic testing was performed: 2 variants in the ABCA1 gene were detected (c.1834G>Tp(Glu612*); c.4297G>Tp(Glu1433*), confirming the diagnosis. </span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Tangier’s disease is a rare disorder (<150 cases worldwide) characterized by extremely low HDL levels, leading to tissue accumulation of cholesterol, premature atherosclerosis and peripheral neuropathy. This is, to the best of our knowledge, the first case of TAVI in a patient with Tangier's disease. Multimodality imaging was key to unveil the diagnosis, in the absence of classical findings, such as the bright orange tonsils – not all that is gold glitters!</span></span></p>
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