Abstract
Thoracic aortic aneurysms may result in dissection with fatal consequences if undetected. A young male patient with no relevant familial history, after having been investigated for hypertension, was diagnosed with an ascending aortic aneurysm involving the aortic root and the proximal tubular segment, associated with a septal atrial defect. The patient underwent a Bentall surgery protocol without complications. Clinical examination revealed dorso–lumbar scoliosis and no other signs of underlying connective tissue disease. Microscopic examination revealed strikingly severe medial degeneration of the aorta, with areas of deep disorganization of the medial musculo–elastic structural units and mucoid material deposition. Genetic testing found a variant of unknown significance the PRKG1 gene encoding the protein kinase cGMP-dependent 1, which is important in blood pressure regulation. There may be genetic links between high blood pressure and thoracic aortic aneurysm determinants. Hypertension was found in FBN1 gene mutations encoding fibrillin and in PRKG1 mutations. Possible mechanisms involving the renin–angiotensin system, the role of oxidative stress, osteopontin, epigenetic modifications and other genes are reviewed. Close follow-up and strict hypertension control are required to reduce the risk of dissection. Hypertension, scoliosis and other extra-aortic signs suggesting a connective tissue disease are possible clues for diagnosis.
Highlights
Thoracic aortic aneurysms (TAA) may result in dissection with fatal consequences if undetected [1].TAA are a cause of early mortality, inasmuch as they are often nonsymptomatic [2]
The thoracic and abdominal aortic aneurysms (AAA) have different clinical characteristics, they share a proteolytic degeneration of elastic tissue and vascular smooth muscle cells (SMC)
We describe a case of TAA in which a young patient with no relevant familial history was investigated for early-onset hypertension, in whom a variant of unknown significance of the gene encoding Protein kinase cGMP-dependent 1 (PKG1) was found
Summary
Thoracic aortic aneurysms (TAA) (defined as local aorta dilatations with a diameter increase of more than 50%) may result in dissection with fatal consequences if undetected [1]. The thoracic and abdominal aortic aneurysms (AAA) have different clinical characteristics, they share a proteolytic degeneration of elastic tissue and vascular smooth muscle cells (SMC). Unlike AAA, TAA are in 20% of cases inherited, transmitted in an autosomal dominant manner due to single-gene mutations [4]. Other associations of TAA are aortic bicuspidia and cerebral aneurysms. Mutations interest the genes that encode proteins involved in vascular smooth muscle cell (SMC) contraction, elastin and microfibrils, the TGF-β pathway, the extracellular matrix (ECM) and other genes [2]. We describe a case of TAA in which a young patient with no relevant familial history was investigated for early-onset hypertension, in whom a variant of unknown significance of the gene encoding PKG1 was found
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