TY - JOUR
T1 - The Genetics of Aortopathies in Clinical Cardiology
AU - Goyal, Amit
AU - Keramati, Ali R.
AU - Czarny, Matthew J.
AU - Resar, Jon R.
AU - Mani, Arya
N1 - Publisher Copyright:
© 2017, © The Author(s) 2017.
PY - 2017/5/24
Y1 - 2017/5/24
N2 - Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets. This review will summarize the pathogenetic mechanisms and management of heritable genetic aortopathies with attention to specific forms of both syndromic and nonsyndromic disorders, including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and familial thoracic aortic aneurysm and dissection.
AB - Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets. This review will summarize the pathogenetic mechanisms and management of heritable genetic aortopathies with attention to specific forms of both syndromic and nonsyndromic disorders, including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and familial thoracic aortic aneurysm and dissection.
KW - Loeys-Dietz syndrome
KW - Marfan syndrome
KW - Thoracic aortic aneurysm
KW - familial thoracic aortic aneurysm and dissection
KW - genetic aortopathy
KW - vascular Ehlers-Danlos syndrome
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U2 - 10.1177/1179546817709787
DO - 10.1177/1179546817709787
M3 - Review article
C2 - 28607545
AN - SCOPUS:85040778827
SN - 1179-5468
VL - 11
JO - Clinical Medicine Insights: Cardiology
JF - Clinical Medicine Insights: Cardiology
ER -