Abstract
Thoracic aortic aneurysm/dissection (TAAD) is a potential lethal condition with a rising incidence. This condition may occur sporadically; nevertheless, it displays familial clustering in >20% of the cases. Family history confers a six- to twentyfold increased risk of TAAD and has to be considered in the identification and evaluation of patients needing an adequate clinical follow-up. Familial TAAD recognizes a number of potential etiologies with a significant genetic heterogeneity, in either syndromic or nonsyndromic forms of the manifestation. The clinical impact and the management of patients with TAAD differ according to the syndromic and nonsyndromic forms of the manifestation. The clinical management of TAAD patients varies, depending on the different forms. Starting from the description of patient history, in this paper, we summarized the state of the art concerning assessment of clinical/genetic profile and therapeutic management of TAAD patients.
Highlights
Thoracic aortic aneurysm/dissection (TAAD) is a potential lethal condition with a rising incidence and its clinical impact, as well as the therapeutic management, differs according to the syndromic or nonsyndromic manifestation
Starting from a real-world clinical case report and referring to the state of the art in the field, this review aims to summarize the principal diagnostic phases with the clinical/genetics evaluations allowing the achievement of the most appropriate management of TAAD patients
In 2011, transthoracic echocardiography detected moderate aortic insufficiency and an MRI study showed the satisfactory outcome of the surgical intervention on the aorta, excluding the recurrence of any further dilatation in other aortic regions
Summary
Thoracic aortic aneurysm/dissection (TAAD) is a potential lethal condition with a rising incidence and its clinical impact, as well as the therapeutic management, differs according to the syndromic or nonsyndromic manifestation. The understanding of the family history together with a comprehensive clinical and genetic evaluation of patients with TAAD is necessary for clinical diagnosis in order to achieve a documented differential diagnosis and therapeutic medical and surgical strategies. Starting from a real-world clinical case report and referring to the state of the art in the field, this review aims to summarize the principal diagnostic phases with the clinical/genetics evaluations allowing the achievement of the most appropriate management of TAAD patients
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