At present there are several dozen monogenic conditions that affect the thoracic aorta and its arterial branches. Until recently, the typical approach was to manage these conditions according to the principles established for Marfan syndrome. However, many of the thoracic aortopathies require a more nuanced approach and considerable research is required to ‘personalize’ diagnosis, management and counseling for each patient and family.
In 2014, MAC established a global MAC Registry for the collection of clinical and genetic information from the patients, both those with confirmed genetic mutations and those in whom ‘new’ genes are causative. The chief purpose of the Registry is to enable collaborative research among international investigators. The Registry will provide invaluable assistance to researchers and clinicians in better understanding the pathogenesis of aortic diseases, improving diagnostic criteria especially in children, and establishing the most effective treatment approaches for each disorder. One current objective is to accumulate extensive genotypic data in families such that genetic modifiers can be identified.