Improving the clinical care of children and young adults with Marfan syndrome and related disorders by molecular genetic testing through next-generation sequencing

Marfan syndrome and related disorders, collectively called aortopathies or genetic aortic syndromes, are associated with early mortality because of aortic dissection or rupture. Clinical features manifest during childhood and the risk of aortic dissection or rupture increases during adolescence. Thus, timely diagnosis is important for improvement of prognosis and life quality of children and young adults. As patient management is increasingly based on the genetic diagnosis, molecular genetic confirmation of the clinical diagnosis is a prerequisite for an optimal outcome of the pediatric patients. In children with a molecularly confirmed diagnosis, adjustment of the therapeutic scheme can delay or even prevent critical aortic dilatation requiring surgical intervention. Thus, the main aim of this research proposal is the timely molecular diagnosis in Indian children and adolescents with the clinical diagnosis of a genetic aortic syndrome by performing state-of-the-art sequencing technologies, such as next-generation panel sequencing and whole-exome sequencing, to improve clinical care and management.