Common presentation of rare diseases: Aortic aneurysms & valves

Article ID	Journal	Published Year	Pages	File Type
8662381	International Journal of Cardiology	2018	8 Pages	PDF

Abstract

Clinical family screening of syndromic diseases is facilitated by the evaluation of non-cardiovascular traits; this supports early diagnosis and geno-phenotype correlation. Vice versa, family screening studies in non-syndromic aneurysmal and valvular diseases exclusively relies on CV imaging screening of relatives. In this context, conditions such as BAV and related aortopathy are easy to diagnose because BAV is present at birth while aortopathy usually develops during the life course.

Keywords

Aortic root dilation TAAD Loeys–Dietz syndrome MVP LDS BAV Valvulopathy MVD AAA ATS ARD MFS Ectopia lentis SGS NGS arterial tortuosity syndrome EDS TAA Aortopathy Aneurysm Thoracic aortic aneurysm Abdominal aortic aneurysm Connective tissue Mitral valve disease Rare disease Next generation sequencing computed tomography Bicuspid aortic valve tricuspid valve Aortic root Ehlers–Danlos syndrome Marfan Syndrome Noonan syndrome atrial septal defect ASD Mitral valve prolapse Genetics