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Article

How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination—Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus

by
Lidia Wozniak-Mielczarek
1,*,
Michalina Osowicka
2,
Alicja Radtke-Lysek
3,
Magda Drezek-Nojowicz
4,
Natasza Gilis-Malinowska
3,
Anna Sabiniewicz
5,
Maksymilian Mielczarek
3 and
Robert Sabiniewicz
1
1
Department of Pediatric Cardiology and Congenital Heart Defects, Medical University of Gdansk, 80-210 Gdansk, Poland
2
Department of History of Medicine, Medical University of Warsaw, 02-091 Warsaw, Poland
3
1st Department of Cardiology, Medical University of Gdansk, 80-210 Gdansk, Poland
4
Department of Ophthalmology, Medical University of Gdansk, 80-210 Gdansk, Poland
5
Students’ Scientific Circle of the Department of Pediatric Cardiology and Congenital Heart Diseases, Medical University of Gdansk, 80-210 Gdansk, Poland
*
Author to whom correspondence should be addressed.
Int. J. Environ. Res. Public Health 2022, 19(2), 772; https://doi.org/10.3390/ijerph19020772
Submission received: 7 November 2021 / Revised: 2 January 2022 / Accepted: 4 January 2022 / Published: 11 January 2022
(This article belongs to the Special Issue New Insights in Pediatric Cardiology)
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Abstract

Marfan Syndrome (MFS) is a systemic disorder caused by mutations in fibrillin-1. The most common cause of mortality in MFS is dissection and rupture of the aorta. Due to a highly variable and age-dependent clinical spectrum, the diagnosis of MFS still remains sophisticated. The aim of the study was to determine if there exist phenotypic features that can play the role of “red flags” in cases of MFS suspicion. The study population included 306 patients (199 children and 107 adults) who were referred to the Department of Pediatric Cardiology due to suspicion of MFS. All patients underwent complete clinical evaluation in order to confirm the diagnosis of MFS according to the modified Ghent criteria. MFS was diagnosed in 109 patients and marfanoid habitus in 168 patients. The study excluded 29 patients with other hereditary thoracic aneurysm syndromes. Comparative analysis between patients with Marfan syndrome and marfanoid habitus was performed. Symptoms with high prevalence and high positive likelihood ratio were identified (pectus carinatum, reduced elbow extension, hindfoot deformity, gothic palate, downslanting palpebral fissures, lens subluxation, myopia ≥ 3 dioptres remarkably high stature). The differentiation between patients with MFS and marfanoid body habitus is not possible by only assessing external body features; however, “red flags” could be helpful in the screening phase.
Keywords: Marfan syndrome; marfanoid habitus; thumb sign; wrist sign; pectus carinatum; pectus excavatum; gothic palate; Ghent criteria; aortic root dilatation Marfan syndrome; marfanoid habitus; thumb sign; wrist sign; pectus carinatum; pectus excavatum; gothic palate; Ghent criteria; aortic root dilatation

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MDPI and ACS Style

Wozniak-Mielczarek, L.; Osowicka, M.; Radtke-Lysek, A.; Drezek-Nojowicz, M.; Gilis-Malinowska, N.; Sabiniewicz, A.; Mielczarek, M.; Sabiniewicz, R. How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination—Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus. Int. J. Environ. Res. Public Health 2022, 19, 772. https://doi.org/10.3390/ijerph19020772

AMA Style

Wozniak-Mielczarek L, Osowicka M, Radtke-Lysek A, Drezek-Nojowicz M, Gilis-Malinowska N, Sabiniewicz A, Mielczarek M, Sabiniewicz R. How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination—Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus. International Journal of Environmental Research and Public Health. 2022; 19(2):772. https://doi.org/10.3390/ijerph19020772

Chicago/Turabian Style

Wozniak-Mielczarek, Lidia, Michalina Osowicka, Alicja Radtke-Lysek, Magda Drezek-Nojowicz, Natasza Gilis-Malinowska, Anna Sabiniewicz, Maksymilian Mielczarek, and Robert Sabiniewicz. 2022. "How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination—Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus" International Journal of Environmental Research and Public Health 19, no. 2: 772. https://doi.org/10.3390/ijerph19020772

APA Style

Wozniak-Mielczarek, L., Osowicka, M., Radtke-Lysek, A., Drezek-Nojowicz, M., Gilis-Malinowska, N., Sabiniewicz, A., Mielczarek, M., & Sabiniewicz, R. (2022). How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination—Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus. International Journal of Environmental Research and Public Health, 19(2), 772. https://doi.org/10.3390/ijerph19020772

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