Duplications spanning nine genes at the genomic locus 16p13. 1 predispose individuals to
acute aortic dissections. The most likely candidate gene in this region leading to the …

Background cGMP‐hydrolyzing phosphodiesterase type 5 (PDE5) regulates vascular
smooth muscle cell (SMC) contraction by antagonizing cGMP‐dependent protein kinase I …

The expansion in the repertoire of genes linked to thoracic aortic aneurysms (TAA) has
revolutionised our understanding of the disease process. The clinical benefits of such …

Marfan syndrome (MFS) is a heritable connective tissue disorder caused by pathogenic
variants in the gene coding for the extracellular matrix protein fibrillin-1. While the disease …

Aortic aneurysms (AAs) are pathological dilatations of the aorta. Pathogenic variants in
genes encoding for proteins of the contractile machinery of vascular smooth muscle cells …

Acute aortic dissection (AAD) is a cardiovascular disease that manifests suddenly and
fatally. Due to the lack of specific early symptoms, many patients with AAD are often …

Thoracic aortic aneurysms involving the aortic root and/or ascending aorta can lead to acute
aortic dissections. Approximately 20% of patients with thoracic aortic aneurysms and …

Aortic aneurysms, including thoracic aortic aneurysms and abdominal aortic aneurysms, are
life-threatening macrovascular diseases with high mortality. The already known key …

Spontaneous coronary artery dissection (SCAD) is a potential precipitant of myocardial
infarction and sudden death for which the etiology is poorly understood. Mendelian vascular …

Aortic aneurysm/dissection is a common cause of cardiovascular morbidity and mortality in
the Western world. In general, two forms have been recognised: abdominal aortic …