Marfan Syndrome Precision Panel

Overview

• Marfan Syndrome (MFS) is a spectrum of disorders caused by a genetic defect of the connective tissue and it is inherited in an autosomal dominant pattern. Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, Marfan Syndrome is a pleiotropic syndrome affecting mainly musculoskeletal, cardiac and ocular systems. The most severe of these manifestations include aortic root dilation and dissection, which are responsible for early patient demise. Pregnancy is a time of increased cardiovascular risk for women with Marfan syndrome, so an early diagnosis is key in pregnancy management. 
• The Igenomix Marfan Syndrome Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of connective tissue disorders due to their overlapping phenotypic features ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

• The Igenomix Marfan Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: 
  • Subluxation of lenses 
  • Cardiovascular findings: mitral valve prolapse, aortic regurgitation, mitral regurgitation, aortic dilation, dissection or aneurysm 
  • Tall and thin stature 
  • Long fingers and toes  
  • Pectus carinatum or excavatum 
  • Scoliosis 
  • Hypermobile joints 
  • Severe hindfoot valgus 

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. Understanding global and molecular functions of fibrillin containing microfibrils for the development of a comprehensive theory of pathogenesis.   
• Early initiation of treatment with a multidisciplinary team in the form of medical treatment and surveillance to prevent vascular complications and/or surgical care in case of development of vascular compromise. 
• Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
• Improvement of delineation of genotype-phenotype correlation due to overlapping features of connective tissue disorders. 

Genes & Diseases