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Heritable Thoracic Aortic Disorders

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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 on one or several levels from the aortic annulus till the diaphragm. Depending on the presence or absence of manifestations in other organ systems, H-TAD can be further subdivided into syndromic and nonsyndromic H-TAD (NS H-TAD). For both clinical entities, multiple underlying gene defects have been identified, although we must recognize that in a substantial number of patients and families no causal mutation has been identified, defining them as “Heritable” but strictly speaking not (yet) as “Genetic.”

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Authors and Affiliations

  1. Department of Cardiology, Academic Medical Centre, Meibergdreef 9, Amsterdam, AZ 1105, The Netherlands

    Barbara J. M. Mulder, Ingrid M. B. H. van de Laar & Julie De Backer

  2. Department of Clinical Genetics, Erasmus Medical Center, Postbus 2040, Rotterdam, CA 3000, The Netherlands

    Barbara J. M. Mulder, Ingrid M. B. H. van de Laar & Julie De Backer

  3. Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, De Pintelaan, 185 9000, Ghent, Belgium

    Barbara J. M. Mulder, Ingrid M. B. H. van de Laar & Julie De Backer

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  1. Barbara J. M. Mulder
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Correspondence to Barbara J. M. Mulder .

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  1. Department of Cardiology, St. Elisabeth-TweeSteden Ziekenhuis, Tilburg, The Netherlands

    Hubert F. Baars

  2. Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands

    Pieter A. F. M. Doevendans

  3. Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands

    Arjan C. Houweling

  4. Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands

    J. Peter van Tintelen

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Mulder, B.J.M., van de Laar, I.M.B.H., De Backer, J. (2016). Heritable Thoracic Aortic Disorders. In: Baars, H., Doevendans, P., Houweling, A., van Tintelen, J. (eds) Clinical Cardiogenetics. Springer, Cham. https://doi.org/10.1007/978-3-319-44203-7_17

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