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

Lidia Wozniak-Mielczarek, Michalina Osowicka, Alicja Radtke-Lysek, Magda Drezek-Nojowicz, Natasza Gilis-Malinowska, Anna Sabiniewicz, Maksymilian Mielczarek and Robert Sabiniewicz
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Lidia Wozniak-Mielczarek: Department of Pediatric Cardiology and Congenital Heart Defects, Medical University of Gdansk, 80-210 Gdansk, Poland
Michalina Osowicka: Department of History of Medicine, Medical University of Warsaw, 02-091 Warsaw, Poland
Alicja Radtke-Lysek: 1st Department of Cardiology, Medical University of Gdansk, 80-210 Gdansk, Poland
Magda Drezek-Nojowicz: Department of Ophthalmology, Medical University of Gdansk, 80-210 Gdansk, Poland
Natasza Gilis-Malinowska: 1st Department of Cardiology, Medical University of Gdansk, 80-210 Gdansk, Poland
Anna Sabiniewicz: Students’ Scientific Circle of the Department of Pediatric Cardiology and Congenital Heart Diseases, Medical University of Gdansk, 80-210 Gdansk, Poland
Maksymilian Mielczarek: 1st Department of Cardiology, Medical University of Gdansk, 80-210 Gdansk, Poland
Robert Sabiniewicz: Department of Pediatric Cardiology and Congenital Heart Defects, Medical University of Gdansk, 80-210 Gdansk, Poland

IJERPH, 2022, vol. 19, issue 2, 1-13

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 (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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