Research News: New Publication Examines Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome

A new collaborative publication by members of the Heritable Thoracic Aortic Diseases Working Group (HTAD WG) has just been published in the Journal of Clinical Medicine. It is entitled Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome and is co-authored by HTAD WG Chair, Prof. Julie De Backer, and HTAD WG members Prof. Yskert von Kodolitsch and Dr. Katalin Szöcs.

Read the full publication here

Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are two rare heritable thoracic aortic diseases that share many similarities including mode of inheritance (autosomal-dominant), a high risk for aneurysm and dissection of the thoracic aorta, and various systemic features. In this study clinical manifestations and outcomes were compared between age- and sex-matched groups of patients with LSD (26 with pathogenic variants in TGFBR1, 40 in TGFBR2, and 17 in SMAD3) and MFS (83 with FBN1 pathogenic variants).

Key findings included:

  • LDS was specifically associated with a history of patent ductus arteriosus and increased craniofacial scores.
  • LDS had lower systemic score points (according to the Ghent nosology) and a lower prevalence of mitral valve prolapse and tricuspid valve prolapse than MFS
  • The risk of death, proximal aortic surgery, distal aortic repair, mitral valve surgery, and cardiovascular reinterventions was similar in LDS and MFS patients.

Conclusions:  Cardiovascular outcome of Loeys-Dietz syndrome was comparable to Marfan syndrome, but the severity of systemic manifestations is a predictor of proximal aortic surgery. However, large multicenter studies may be necessary to further elucidate the impact of aortic and systemic features on cardiovascular outcome in Loeys-Dietz Syndrome.”


Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome. Mühlstädt K, De Backer J, von Kodolitsch Y, Kutsche K, Muiño Mosquera L, Brickwedel J, Girdauskas E, Mir TS, Mahlmann A, Tsilimparis N, Staebler A, Schoof L, Seidel H, Berger J, Bernhardt AM, Blankenberg S, Kölbel T, Detter C, Szöcs K, Kaemmerer H. J Clin Med. 2019 Nov 29;8(12). pii: E2079. doi: 10.3390/jcm8122079.PMID: 31795342 

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