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Cervical artery dissection expands the cardiovascular phenotype in FBN1 ‐related Weill–Marchesani syndrome
Author(s) -
Newell Kelsey,
Smith Wendy,
Ghoshhajra Brian,
Isselbacher Eric,
Lin Angela,
Lindsay Mark E.
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38353
Subject(s) - medicine , marfan syndrome , mitral valve prolapse , cardiology , dysplasia , aortic dissection , dissection (medical) , stenosis , context (archaeology) , aneurysm , arterial dissection , mitral valve , surgery , aorta , paleontology , biology
Weill–Marchesani syndrome (WMS) is a rare form of acromelic dysplasia that is characterized by distinctive skeletal, ocular, and cardiovascular abnormalities. Previously described cardiac manifestations of WMS include aortic and pulmonary valve stenosis, mitral valve prolapse, mitral stenosis, and QTc prolongation. Autosomal dominant forms of WMS result from heterozygous pathogenic variants in FBN1 , a gene with a well characterized role in the pathogenesis of thoracic aortic aneurysm (TAA) in the context of Marfan syndrome. In contrast, only one patient has been reported with aortic disease in WMS. Although the risk of aortic dissection from preceding TAA remains the leading cause of morbidity for individuals with Marfan syndrome, rare reports of arterial dissection in the peripheral vasculature have been described. Peripheral artery dissection has not been previously reported in other FBN1‐ related diseases. We describe a three generation family with FBN1 ‐related WMS whose cardiovascular manifestations include TAA and cervical artery dissection, thus expanding the cardiovascular phenotype of WMS. Further research is required to quantify these risks and establish appropriate recommendations for cardiovascular imaging, medical management, and prophylactic surgical intervention in individuals with FBN1 ‐related acromelic dysplasia.