Implant-Based Breast Reconstruction in Patients with Connective Tissue Disease: A Case Report Demonstrating Safety and Efficacy in Marfan Syndrome.

Plastic surgeons performing prosthetic breast reconstruction face a demanding task in manipulating and reconstructing the altered soft tissue envelope in patients with connective tissue disease (CTD). Despite the difficulties inherent to this unique patient population, there are no reports in the literature describing breast reconstruction or tissue expansion in patients with CTD. We therefore aim to provide a general guide for those who face this clinical challenge using a representative case of breast reconstruction with tissue expansion in a patient with Marfan syndrome. Marfan syndrome is a variably penetrant, autosomal dominant disorder caused by mutations in the FBN1 gene, which encodes fibrillin-1. Fibrillin is a large glycoprotein component of the extracellular matrix (ECM). Polymers of fibrillin form microfibrils and microfibrils, when combined with elastin, form elastic fibers. Given the ubiquitous nature of these ECM components, Marfan syndrome affects many organ systems including the cardiovascular and pulmonary systems, eye, skeleton, and skin. Manifestations of the disease include aortic aneurysm formation, spontaneous pneumothorax, and lens dislocation. Moreover, the role of elastin and elastin turnover in the development and progression of cancer is a current area of active investigation. Diagnosis of Marfan syndrome is made using the Ghent nosology that was establish in 1996 and has recently been updated in 2010. Factors included in the 2010 Ghent nosology include: presence of family history of Marfan syndrome, presence of the FBN-1 genetic mutation, presence of ectopia lentis, aortic root Z-score, and a systemic score comprised of presence of various physical findings such as scoliosis, striae, myopia, or mitral valve prolapse, among others. The original nosology determined the Marfan syndrome “was present if two major organ systems were involved and if a third organ system was involved in a minor way.” The updated nosology considers alternative diagnoses that could be made in a patient being evaluated for Marfan syndrome. These related entities include Loeys–Dietz syndrome (LDS), familial thoracic aortic aneurysm and/or dissection (FTAAD), familial mitral valve prolapse syndrome (MVPS), mitral valve, aorta, skeleton, and skin (MASS) phenotype, and Ehlers-Danlos syndrome (EDS). This updated criteria has increased the diagnostic yield of the Ghent nosology for Marfan syndrome, notably for patients presenting with thoracic aortic dilatation. In the context of breast reconstruction, the skin and skeletal manifestations of Marfan syndrome are most pertinent. The skeletal system is affected by overgrowth of tubular long bones, including the ribs; scoliosis may also be present in Marfan syndrome. This overgrowth often leads to pectus excavatum or carinatum deformities of the chest. At the epidermal-dermal junction, microfibrils likely play a role in the adhesion of skin layers. Skin manifestations of the disease include prominent striae atrophicae in unusual areas, suggesting an impaired response to stretch or tension. Abnormalities in the ECM provides a unique challenge in prosthetic breast reconstruction in patients with Marfan syndrome and all CTDs. Skeletal deformities provide a contorted foundation upon which to base reconstruction while