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2018 ; 8
(Suppl 1
): S71-S81
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Syndromes with aortic involvement: pictorial review
#MMPMID29850420
Zucker EJ
Cardiovasc Diagn Ther
2018[Apr]; 8
(Suppl 1
): S71-S81
PMID29850420
show ga
A variety of syndromes are associated with thoracoabdominal aortic pathologies.
While these diseases are collectively rare, the presence of advanced or unusual
aortic disease at a young age should raise suspicion of an underlying syndrome.
Similarly, patients with a known syndrome require close monitoring in
anticipation of future aortic disease. In this article, the syndromes most
commonly encountered in clinical practice are reviewed, including Marfan syndrome
(MFS) and other connective tissue disorders, Turner syndrome (TS), autosomal
dominant polycystic kidney disease (ADPKD), neurofibromatosis (NF), Williams
syndrome (WS), Alagille syndrome (AGS), and DiGeorge syndrome (DGS). The distinct
clinical, imaging, and management features of each disorder are discussed.
Attention is focused on the unique patterns of aortic disease in each syndrome,
emphasizing the role of recent imaging modalities and treatment strategies.
Ancillary and distinguishing aspects of the syndromes that aid in diagnosis are
also highlighted.