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Genetik und Prävention am Beispiel genetischer Aortensyndrome (GAS) und des Marfan-Syndroms

Genetics and prevention of genetic aortic syndromes (GAS) and of the Marfan syndrome

  • Leitthema
  • Published:
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz Aims and scope

Zusammenfassung

Hintergrund

Genetische Aortensyndrome (GAS) sind meist autosomal-dominant erbliche thorakale Aortenaneurysmen, die bereits im jungen Alter zur Ruptur und thorakaler Aortendissektion führen.

Ziel der Arbeit

Wir möchten den Leser mit Prinzipien der genetischen Diagnostik sowie der medikamentösen und chirurgischen Prävention der genetischen Aortensyndrome vertraut machen.

Methoden

Ein Autorenteam, bestehend aus Kardiologe, Gesundheitsökonom, Patientenvertreter, Herzchirurg und Molekulargenetiker, erläutert die aus ihrer Sicht wichtigsten Aspekte zur Genetik und Prävention des genetischen Aortensyndroms.

Ergebnisse

Genetische Aortensyndrome bestehen aus einem breiten Spektrum verschiedener Krankheitsentitäten wie Marfan-Syndrom, Loeys-Dietz-Syndrom und vaskuläres Ehlers-Danlos-Syndrom. Die Diagnostik von genetischen Aortensyndromen basiert auf kombinierter Charakterisierung von Phänotyp und Genotyp. Eine medikamentöse Prävention ist wichtig, obgleich eine Heilung genetischer Aortensyndrome gegenwärtig unwahrscheinlich ist. Das wichtigste Prinzip der Prävention einer thorakalen Aortendissektion ist der prophylaktische Ersatz der Aortenwurzel durch klappenerhaltende Operationstechniken. Prävention inklusive molekulargenetischer Diagnostik ist auch ökonomisch rational.

Diskussion

Optimale prophylaktische Konzepte erfordern eine individualisierte Vorgehensweise mit detaillierter Diagnose des zugrundeliegenden genetischen Aortensyndroms inklusive Charakterisierung des Genotyps.

Abstract

Background

Genetic aortic syndromes are autosomal-dominantly heritable aneurysms of the thoracic aorta, which carry a high risk of aortic rupture or acute thoracic aortic dissection at young age.

Objectives

We introduce the reader to the principles of genetic diagnostics and the medical and surgical prevention of thoracic aortic dissection in patients with genetic aortic syndromes.

Methods

A cardiologist, a health economist, a patient representative, a heart surgeon, and a molecular geneticist teamed up to elucidate their perspective on major aspects of genetics and prevention of genetic aortic syndromes.

Results

Genetic aortic syndromes reflect a broad spectrum of diverse disease entities comprising the Marfan syndrome, the Loeys−Dietz syndrome or the vascular Ehlers−Danlos syndrome. The diagnosis of each respective disease entity requires combined assessment of phenotype and genotype information. A medical prevention of aortic complications such as dissection is mandatory although a curative therapy currently appears unlikely in humans. The single most important measure against acute aortic dissection is the preventive replacement of the aortic root, where valve preserving techniques appear preferable. Comprehensive prophylaxis including molecular diagnostics seem reasonable also from an economic point of view.

Discussion

Optimal prevention requires individualization of concepts, which entail a detailed diagnostic characterization of each specific genetic aortic syndrome including characterization of the genotype.

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Author information

Authors and Affiliations

  1. Klinik und Poliklinik für Allgemeine und Interventionelle Kardiologie, Universitätsklinik Hamburg-Eppendorf, Universitäres Herzzentrum Hamburg, Martinistr. 52, 20246, Hamburg, Deutschland

    Y. von Kodolitsch MBA

  2. Hamburg Center for Health Economics, Universität Hamburg, Hamburg, Deutschland

    C. R. Blankart

  3. Marfan Hilfe Deutschland e. V., Eutin, Deutschland

    Y. von Kodolitsch MBA & M. Vogler

  4. Klinik für Herzchirurgie, Universitätsklinikum Heidelberg, Heidelberg, Deutschland

    K. Kallenbach

  5. Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Deutschland

    P. N. Robinson

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  1. Y. von Kodolitsch MBA
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  2. C. R. Blankart
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  3. M. Vogler
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  4. K. Kallenbach
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  5. P. N. Robinson
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Correspondence to Y. von Kodolitsch MBA.

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Prof. Dr. med. Y. von Kodolitsch, C.R. Blankart, M. Vogler, K. Kallenbach und P.N. Robinson erklären, dass kein Interessenkonflikt besteht.

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von Kodolitsch, Y., Blankart, C., Vogler, M. et al. Genetik und Prävention am Beispiel genetischer Aortensyndrome (GAS) und des Marfan-Syndroms. Bundesgesundheitsbl. 58, 146–153 (2015). https://doi.org/10.1007/s00103-014-2093-2

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  • DOI: https://doi.org/10.1007/s00103-014-2093-2

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