Inherited aortopathy: an overview

Abstract

This article is the fourth instalment of a wider series looking at cardiac genetic concepts. Inherited aortopathies are a group of syndromic and non-syndromic genetic conditions that affect the aorta. Aortopathies can lead to sudden cardiac death through aortic aneurysm rupture, especially in individuals whose aortopathy is undiagnosed. Most inherited aortopathies follow an autosomal dominant inheritance pattern and high-quality family history taking is paramount in assessing this. This article focuses on thoracic aortic aneurysm and provides an overview of the aetiology, diagnosis and management, including risk stratification and treatment.