The Genetics of Aortopathies in Clinical Cardiology

The Genetics of Aortopathies in Clinical Cardiology

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-generati...

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Main Authors: Amit Goyal, Ali R Keramati, Matthew J Czarny, Jon R Resar, Arya Mani
Format: Article
Language:English
Published: SAGE Publishing 2017-05-01
Series:Clinical Medicine Insights: Cardiology
Online Access:https://doi.org/10.1177/1179546817709787
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spelling doaj-a812fda0134149968a7cb2e9963f1f1c2020-11-25T03:13:25ZengSAGE PublishingClinical Medicine Insights: Cardiology1179-54682017-05-011110.1177/1179546817709787The Genetics of Aortopathies in Clinical CardiologyAmit Goyal0Ali R Keramati1Matthew J Czarny2Jon R Resar3Arya Mani4Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USADivision of Cardiology, Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USADivision of Cardiology, Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USADivision of Cardiology, Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USAYale Cardiovascular Genetics Program, Yale Cardiovascular Research Center, Department of Internal Medicine, Yale School of Medicine, Yale University, New Haven, CT, USAAortopathies 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.https://doi.org/10.1177/1179546817709787
collection DOAJ
language English
format Article
sources DOAJ
author Amit Goyal
Ali R Keramati
Matthew J Czarny
Jon R Resar
Arya Mani
spellingShingle Amit Goyal
Ali R Keramati
Matthew J Czarny
Jon R Resar
Arya Mani
The Genetics of Aortopathies in Clinical Cardiology
Clinical Medicine Insights: Cardiology
author_facet Amit Goyal
Ali R Keramati
Matthew J Czarny
Jon R Resar
Arya Mani
author_sort Amit Goyal
title The Genetics of Aortopathies in Clinical Cardiology
title_short The Genetics of Aortopathies in Clinical Cardiology
title_full The Genetics of Aortopathies in Clinical Cardiology
title_fullStr The Genetics of Aortopathies in Clinical Cardiology
title_full_unstemmed The Genetics of Aortopathies in Clinical Cardiology
title_sort genetics of aortopathies in clinical cardiology
publisher SAGE Publishing
series Clinical Medicine Insights: Cardiology
issn 1179-5468
publishDate 2017-05-01
description 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.
url https://doi.org/10.1177/1179546817709787
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