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Aortopathies in adult congenital heart disease and genetic aortopathy syndromes: management strategies and indications for surgery
  1. Joey M Kuijpers1,2,
  2. Barbara JM Mulder1,2
  1. 1 Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands
  2. 2 Netherlands Heart Institute, Utrecht, The Netherlands
  1. Correspondence to Barbara JM Mulder, Department of Cardiology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands; b.j.mulder{at}amc.uva.nl

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Learning objectives

  1. Review the epidemiology, histology, pathophysiology and genetics of congenital heart disease-associated aortopathies and genetic aortopathy syndromes.

  2. Review and describe

    1. appropriate imaging strategies for diagnosis and follow-up

    2. appropriate pharmacotherapeutic strategies and indications for aortic surgery

    3. considerations relevant to pregnancy

    4. considerations relevant to sports participation in patients with congenital heart disease-associated aortopathy or a genetic aortopathy syndrome.

Introduction

Progressive proximal aortic (ie, aortic root and ascending aortic) dilatation is frequently found in adults with unrepaired or repaired congenital heart disease (CHD). With the growing number of patients with adult CHD (ACHD), physicians increasingly find themselves challenged with the management of proximal aortic dilatation in this heterogeneous patient population. Data on the natural history of CHD-associated aortic dilatation, including risk of dissection, rupture and aortic insufficiency, are scarce. These issues, essentially informing decisions regarding surveillance, pharmacotherapy and surgery, are better defined for genetic aortopathy syndromes, particularly Marfan syndrome (MFS). Moreover, histopathological similarities between CHD-associated and MFS-associated aortopathies have been found.1

This review outlines CHD–associated thoracic aortic dilatation, with special focus on management and indications for surgery. Genetic aortopathy syndromes, including MFS, are addressed as these also require cardiologic follow-up of the proximal aorta. Moreover, data from studies in patients with MFS may inform management of proximal aortic dilatation in the setting of other diseases and syndromes. International guidelines on aortic disease,2–4 ACHD5 6 and valvular heart disease7 are complementary with respect to management of CHD-associated aortic dilatation, and the proposed management represents an integration of these guidelines.

The thoracic aorta

The thoracic aorta is subdivided into the root, ascending aorta, arch and descending aorta (figure 1). Aortic diameter is dependent on age and body size, the latter accounting for generally larger diameters in men. The aorta is considered dilated when its diameter exceeds the upper limit of established normal values, and aneurysmal when …

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