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Role of Clinical Genetic Testing in the Management of Aortopathies

  • Cardiovascular Genomics (P Natarajan, Section Editor)
  • Published:
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Abstract

Purpose of Review

Thoracic aortic aneurysms (TAA) have a strong heritable basis, and identification of a genetic etiology has important implications for patients with TAA and their relatives. This review provides an overview of Mendelian causes of TAA, discusses important considerations for genetic testing, and summarizes the impact a genetic diagnosis may have on a patient’s medical care.

Recent Findings

Thoracic aortic disease may be non-syndromic or seen as part of a genetic syndrome, such as Marfan syndrome, Loeys-Dietz syndrome, or vascular Ehlers-Danlos syndrome. Expanded access to genetic testing has revealed the wide and overlapping phenotypic spectrum of these conditions, highlighting the need for genetic testing to establish an accurate diagnosis. Important aspects of genetic evaluation include thorough phenotyping through family history and physical examination, selection of an appropriate genetic test driven by the patient’s phenotype, and careful interpretation of genetic test results. Improved understanding of the natural history of these conditions has led to tailored management recommendations, including gene-based recommendations for prophylactic surgical repair.

Summary

Identification of a genetic etiology allows for careful monitoring of disease progression, informs the timing of prophylactic surgical repair, and facilitates the identification of other at-risk relatives through cascade genetic testing.

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  1. Cardiology Division and Cardiovascular Genetics Program, Massachusetts General Hospital, Boston, MA, USA

    Stephanie L. Harris & Mark E. Lindsay

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Harris, S.L., Lindsay, M.E. Role of Clinical Genetic Testing in the Management of Aortopathies. Curr Cardiol Rep 23, 10 (2021). https://doi.org/10.1007/s11886-020-01435-6

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