title: Familial thoracic aortic aneurysm with dissection presenting as flash pulmonary edema in a 26-year-old man.
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.
authors.affiliation: Department of Internal Medicine, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, USA.
authors.forename: Sabry
authors.initials: S
authors.lastname: Omar
authors.affiliation: Department of Internal Medicine, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, USA.
authors.forename: Tyler
authors.initials: T
authors.lastname: Moore
authors.affiliation: Department of Internal Medicine, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, USA.
authors.forename: Drew
authors.initials: D
authors.lastname: Payne
authors.affiliation: Department of Internal Medicine, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, USA.
authors.forename: Parastoo
authors.initials: P
authors.lastname: Momeni
authors.affiliation: Department of Internal Medicine, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, USA.
authors.forename: Zachary
authors.initials: Z
authors.lastname: Mulkey
authors.affiliation: Department of Cardiothoracic Surgery, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, USA.
authors.forename: Ralph
authors.identifier: 0000-0003-1767-8304
authors.initials: R
authors.lastname: Paone
authors.affiliation: Department of Internal Medicine, Texas Tech University Health Sciences Center, 3601 4th Street, Lubbock, TX 79430, USA.
authors.forename: Kenneth
authors.initials: K
authors.lastname: Nugent
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