Sclerodactyly, tongue telangiectasias, premature severe aortic stenosis, and rna polymerase iii autoantibodies in a patient with syncope

A 61-year-old man first presented in 2013 for evaluation of syncope, fatigue, and Raynaud's phenomenon affecting his fingers. He had positive speckled pattern anti-nuclear antibodies (ANA), but negative anticentromere and anti-topoisomerase I (anti-Scl-70) autoantibodies. Examination revealed sclerodactyly (Fig. 1A) with skin thickening distal to elbows and ankles, and telangiectasias on face, hands, lips, and tongue (Fig. 1B). A diagnosis of limited cutaneous systemic sclerosis was made. Premature onset of severe trileaflet aortic valve stenosis was also established by echocardiography based on severely thickened, calcified, and non-mobile cusps (arrows, Fig 1C,D), peak and mean gradients of 81 mmHg and 52 mmHg, respectively, and valve area of 0.6 cm2 (Fig 1E).

Source: The American Journal of Medicine - November 16, 2023 Category: General Medicine Authors: Konstantinov KN, Roldan CA, Konstantinov NK Tags: Clinical Communication to the Editor Source Type: research