Twenty-nine aortic disease specialists (physicians and researchers) from around the world (USA, Canada, Europe, Australia and Japan), with a range of clinical disciplines including; Cardiovascular Genetics/Medicine, Adult Cardiology, Pediatric Cardiology, Cardiovascular Surgery, Ophthalmology, Imaging and Molecular Research, participated in the Summit.
The Summit was a huge success! There were intensive discussions between the specialists to accelerate research based on their patients’ observations. We look forward to results of the MAC that will change the future for our loved ones affected by any of the genetically triggered aortic diseases.
Over the last decade, a multitude of new gene mutations have been discovered to cause genetic aortic disorders, all of which have aortic aneurysms, dissections and arteriopathy in common, but physically manifest differently from each other, making diagnostic criteria and treatment strategies a serious challenge. Patients affected by many of these newly identified aortic disorders are often faced with early mortality due to underdiagnoses in the current healthcare systems.
Two critically important issues discussed by the MAC group at the Summit included: a) Mutated gene variants manifest varying severities of aortic disease that increases the complexity and fatality of each disease if not diagnosed early. For example, unlike Marfan syndrome, patients carrying the newly identified gene mutations can suffer an aortic dissection with minimal to no enlargement of the aorta. b) Therefore, treatment & management protocols must be tailored specific for the mutated gene variant and not generalized to a more common syndrome.
To address these issues, MAC is collecting data via an online international patient registry that will accelerate research outcomes from larger number of patient groups globally. Based on the research results, MAC will issue clinical guidelines specific for each gene-mutation-causing aortic disorder, such as ACTA2, MYLK, PRKG1, TGFB2, FBN1 variants and others, so that affected individuals can receive the appropriate diagnosis & medical care early.