Abstract
We are reporting a case of familial thoracic aortic aneurysm and dissection in a 26-year-old man with no significant past medical history and a family history of dissecting aortic aneurysm in his mother at the age of 40. The patient presented with cough, shortness of breath, and chest pain. Chest X-ray showed bilateral pulmonary infiltrates. CT scan of the chest showed a dissection of the ascending aorta. The patient underwent aortic dissection repair and three months later he returned to our hospital with new complaints of back pain. CT angiography showed a new aortic dissection extending from the left carotid artery through the bifurcation and into the iliac arteries. The patient underwent replacement of the aortic root, ascending aorta, total aortic arch, and aortic valve. The patient recovered well postoperatively. Genetic studies of the patient and his children revealed no mutations in ACTA2, TGFBR1, TGFBR2, TGFB2, MYH11, MYLK, SMAD3, or FBN1. This case report focuses on a patient with familial TAAD and discusses the associated genetic loci and available screening methods. It is important to recognize potential cases of familial TAAD and understand the available screening methods since early diagnosis allows appropriate management of risk factors and treatment when necessary.
Highlights
Aortic dissection usually occurs in older age groups, but there is a significant proportion of patients with presentations at less than 60 years of age
In the absence of a syndrome associated Thoracic aortic aneurysm and dissection (TAAD), such as Marfan’s syndrome, Ehlers-Danlos syndrome, or LoeysDietz syndrome, it has been reported that 20% of TAAD cases have a genetic component
We describe a male patient with familial TAAD, who does not have any features of the genetic syndromes associated with TAAD
Summary
Aortic dissection usually occurs in older age groups, but there is a significant proportion of patients with presentations at less than 60 years of age. Thoracic aortic aneurysm and dissection (TAAD) is estimated to occur at a rate of 3 cases per 100,000 individuals per year and is a major cause of death [1]. In the absence of a syndrome associated TAAD, such as Marfan’s syndrome, Ehlers-Danlos syndrome, or LoeysDietz syndrome, it has been reported that 20% of TAAD cases have a genetic component. These conditions display variable penetrance and severity [2]
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