CONGRESS ABSTRACT

The clinical case involves a 39-year-old Bangladeshi man admitted to the Internal Medicine Division with pneumonia, pleural effusion, and acute congestive heart failure. His medical history included surgery for a thoraco-abdominal aortic aneurysm, bypass for an abdominal aortic aneurysm, and pulmonary trunk ectasia (31 mm). On admission, he presented with dyspnoea, tachycardia, hypertension, afebrile. Blood tests showed mild anaemia, elevated inflammatory markers (CRP 30 mg/L, n.v. <5 mg/L), and increased NT-pro-BNP (34607 ng/L, n.v. <125 ng/L) and Hs-cTn. Transthoracic echocardiography revealed dilated cardiomyopathy with severe hypokinesia and a reduced LVEF (20%). Chest CT showed bilateral ground-glass opacities, pneumonia, congestion, and pleural effusion. He required high-flow oxygen. Treatment with intravenous furosemide (60 mg day) and ceftriaxone (2 g/day) led to symptom relief, and oxygen therapy was discontinued by day two. The patient then experienced chest pain radiating to his back. Despite stable ECG and decreasing myocardial necrosis markers, coronary angiography revealed sub-occlusion of the proximal right coronary artery, chronic occlusion of its distal segment with collateral circulation, and a large saccular aneurysm in the mid-left anterior descending artery, causing extrinsic compression and downstream sub-occlusion. MSCTA with 3D reconstruction detailed a 21×30 mm aneurysm and another lesion (6×6 mm) with thrombotic apposition. A further coronary aneurysm (13×17 mm) was identified in the proximal right coronary artery. Given the anatomical complexity, coronary obstruction, and severe systolic dysfunction, the Heart Team ruled out surgery. The patient was referred to a Heart Transplant Centre. Family history revealed first-degree cousin parents, with unclear causes of death. Genetic testing identified a heterozygous MYLK gene mutation (c.103T>C-p.Phe35Leu), confirmed by Sanger sequencing. This mutation, associated with familial thoracic aortic aneurysms and dissections (FTAAD) and likely autosomal co-dominant inheritance, was classified as pathogenic. Discussion: FTAAD is a heritable disorder with autosomal dominant transmission, caused by mutations in genes encoding proteins of vascular smooth muscle cells' contractile apparatus and calcium channels. MYLK mutations predispose to acute dissections, even in normal or mildly dilated aortas, primarily affecting the descending thoracic aorta, without syndromic features.