Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study

Background Diseases of the thoracic aorta are characterized by a familial etiology in up to 30% of the cases. Nonsyndromic thoracic aorta diseases (NS‐TADs) lack overt clinical signs and systemic features, which hinder early detection and prompt surgical intervention. We hypothesize that tailored ge...

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Autors principals: Riccardo Giuseppe Abbasciano, Giovanni Mariscalco, Julian Barwell, Gareth Owens, Mustafa Zakkar, Lathishia Joel‐David, Suraj Pathak, Adewale Adebayo, Nora Shannon, Rebecca Louise Haines, Hardeep Aujla, Bryony Eagle‐Hemming, Tracy Kumar, Florence Lai, Marcin Wozniak, Gavin Murphy
Format: Artigo
Idioma:Inglês
Publicat: Wiley 2022-04-01
Col·lecció:Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Matèries:
familial thoracic aortic aneurysm and dissection
genetic screening
whole exome sequencing
Accés en línia:https://www.ahajournals.org/doi/10.1161/JAHA.121.023741
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