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Open AccessArticle

Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome

1
German Aorta Center Hamburg at Centre of Cardiology and Cardiovascular Surgery, University Medical Center Hamburg-Hospital Eppendorf, 20246 Hamburg, Germany
2
Department of Pediatric Cardiology and Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium
3
Department of Cardiology, University Hospital Ghent, 9000 Ghent, Belgium
4
Institute of Human Genetics, University Medical Center Hamburg-Hospital Eppendorf, 20246 Hamburg, Germany
5
University Center for Vascular Medicine and Division of Angiology, Department of Internal Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany
6
Radiologische Praxis München Grosshadern, 81377 Munich, Germany
7
Institute for Human Genetics at Klinikum rechts der Isar, Technical University Munich, 81675 Munich, Germany
8
Department of Medical Biometry and Epidemiology, all at the University Medical Center Hamburg-Hospital Eppendorf, 20246 Hamburg, Germany
9
Department of Congenital Heart Disease and Pediatric Cardiology, Deutsches Herzzentrum München, Technical University München, 80636 Munich, Germany
*
Author to whom correspondence should be addressed.
Both authors contributed equally to this work.
These authors of this publication are members of the European Reference Network for Rare Multisystemic Vascular Disease (VASCERN)—Project ID: 769036.
J. Clin. Med. 2019, 8(12), 2079; https://doi.org/10.3390/jcm8122079
Received: 10 October 2019 / Revised: 15 November 2019 / Accepted: 19 November 2019 / Published: 29 November 2019
Background: Pathogenic variants in TGFBR1, TGFBR2 and SMAD3 genes cause Loeys-Dietz syndrome, and pathogenic variants in FBN1 cause Marfan syndrome. Despite their similar phenotypes, both syndromes may have different cardiovascular outcomes. Methods: Three expert centers performed a case-matched comparison of cardiovascular outcomes. The Loeys-Dietz group comprised 43 men and 40 women with a mean age of 34 ± 18 years. Twenty-six individuals had pathogenic variants in TGFBR1, 40 in TGFBR2, and 17 in SMAD3. For case-matched comparison we used 83 age and sex-frequency matched individuals with Marfan syndrome. Results: In Loeys-Dietz compared to Marfan syndrome, a patent ductus arteriosus (p = 0.014) was more prevalent, the craniofacial score was higher (p < 0.001), the systemic score lower (p < 0.001), and mitral valve prolapse less frequent (p = 0.003). Mean survival for Loeys-Dietz and Marfan syndrome was similar (75 ± 3 versus 73 ± 2 years; p = 0.811). Cardiovascular outcome was comparable between Loeys-Dietz and Marfan syndrome, including mean freedom from proximal aortic surgery (53 ± 4 versus 48 ± 3 years; p = 0.589), distal aortic repair (72 ± 3 versus 67 ± 2 years; p = 0.777), mitral valve surgery (75 ± 4 versus 65 ± 3 years; p = 0.108), and reintervention (20 ± 3 versus 14 ± 2 years; p = 0.112). In Loeys-Dietz syndrome, lower age at initial presentation predicted proximal aortic surgery (HR = 0.748; p < 0.001), where receiver operating characteristic analysis identified ≤33.5 years with increased risk. In addition, increased aortic sinus diameters (HR = 6.502; p = 0.001), and higher systemic score points at least marginally (HR = 1.175; p = 0.065) related to proximal aortic surgery in Loeys-Dietz syndrome. Conclusions: Cardiovascular outcome of Loeys-Dietz syndrome was comparable to Marfan syndrome, but the severity of systemic manifestations was a predictor of proximal aortic surgery. View Full-Text
Keywords: aorta; mitral valve; Loeys-Dietz; Marfan syndrome; TGFBR1; TGFBR2; SMAD3 aorta; mitral valve; Loeys-Dietz; Marfan syndrome; TGFBR1; TGFBR2; SMAD3
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Mühlstädt, K.; De Backer, J.; von Kodolitsch, Y.; Kutsche, K.; Muiño Mosquera, L.; Brickwedel, J.; Girdauskas, E.; Mir, T.S.; Mahlmann, A.; Tsilimparis, N.; Staebler, A.; Schoof, L.; Seidel, H.; Berger, J.; Bernhardt, A.M.; Blankenberg, S.; Kölbel, T.; Detter, C.; Szöcs, K.; Kaemmerer, H. Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome. J. Clin. Med. 2019, 8, 2079.

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