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Bruno Amato, Rita Compagna and Anna Florio

Abstract

The major structural proteins of the vascular wall are collagen and elastin. Genetic connective tissue diseases lead to degeneration, aneurysms and spontaneous dissection or rupture of arteries. The best-known are Marfan syndrome, vascular Ehlers-Danlos syndrome (type IV), Loeys-Dietz syndrome and familial aortic aneurysms and dissections. Objective. This review addresses the current status of endovascular treatment options for major connective tissue diseases. The treatment of choice for patients who are mostly affected at a young age is primarily conservative or open repair. There is only limited evidence in favour of endovascular aortic repair (EVAR) of abdominal aneurysms or thoracic endovascular aortic repair (TEVAR) because disease progression and dilation leads to secondary endoleaks and high reintervention rates with uncertain long-term results. There is therefore consensus that EVAR and TEVAR should be limited to exceptional cases and emergency situations in patients with genetic aortic diseases.

Open access

Stefano Paolacci, Yeltay Rakhmanov, Paolo Enrico Maltese, Francesca Fanelli, Raul Ettore Mattassi, Bruno Amato and Matteo Bertelli

Abstract

Vascular anomalies (VAs) have phenotypic variability within the same entity, overlapping clinical features between different conditions, allelic and locus heterogeneity and the same disorder can be inherited in different ways. Most VAs are sporadic (paradominant inheritance or de novo somatic or germline mutations), but hereditary forms (autosomal dominant or recessive) have been described. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Yeltay Rakhmanov, Paolo Enrico Maltese, Stefano Paolacci, Carla Marinelli, Raul Ettore Mattassi, Bruno Amato, Tommaso Beccari, Munis Dundar and Matteo Bertelli

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. These lesions cause bleeding, particularly in the nose, gastrointestinal tract and brain. HHT has incomplete penetrance, variable expressivity and genetic heterogeneity. De novo mutations associated with the onset of sporadic HHT have been reported. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.