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Heritable Thoracic Aortic Diseases: Syndromal and Isolated (F)TAAD

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Clinical Cardiogenetics

Abstract

Heritable thoracic aortic disease (H-TAD) comprises a heterogeneous group of disorders with as a common denominator aortic aneurysm or dissection. Depending on the presence or absence of manifestations in other organ systems, H-TAD can be further subdivided into syndromic and nonsyndromic H-TAD. Pathogenic variants have been identified in numerous genes involved in structure and in maintenance of tissue homeostasis in the aortic wall. Identification of the underlying genetic defect is not only important for confirmation of the diagnosis but may also help in risk stratification and guidance of management—which will ultimately lead to more personalized medicine. A substantial proportion of (mainly nonsyndromic) families with H-TAD remains in whom the underlying gene defect has not been identified yet, and in these cases, clinical imaging of patients and relatives is the mainstay of follow-up.

Life expectancy in H-TAD patients is mainly determined by the risk for aortic dissection and depends at least partly on the underlying molecular diagnosis. Aneurysms and dissections in these disease entities will most commonly occur in the ascending thoracic part of the aorta, but more distal aortic locations as well as involvement of branching vessels in some cases should also be taken into account. Timely diagnosis and treatment is crucial and should be performed in a multidisciplinary setting.

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Authors and Affiliations

  1. Department of Cardiology, Academic Medical Centre, Amsterdam, The Netherlands

    Barbara J. M. Mulder

  2. Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands

    Ingrid M. B. H. van de Laar

  3. Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

    Julie De Backer

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  1. Barbara J. M. Mulder
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  2. Ingrid M. B. H. van de Laar
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  3. Julie De Backer
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Correspondence to Ingrid M. B. H. van de Laar .

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Editors and Affiliations

  1. Consultant Cardiologist at the OLVG Hospital, Amsterdam, The Netherlands

    Hubert F. Baars

  2. Utrecht University, Utrecht, The Netherlands

    Pieter A. F. M. Doevendans

  3. Amsterdam University Medical Center, Amsterdam, The Netherlands

    Arjan C. Houweling

  4. University Medical Center Utrecht, Utrecht, The Netherlands

    J. Peter van Tintelen

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Mulder, B.J.M., van de Laar, I.M.B.H., De Backer, J. (2020). Heritable Thoracic Aortic Diseases: Syndromal and Isolated (F)TAAD. In: Baars, H.F., Doevendans, P.A.F.M., Houweling, A.C., van Tintelen, J.P. (eds) Clinical Cardiogenetics. Springer, Cham. https://doi.org/10.1007/978-3-030-45457-9_19

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