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Marfan syndrome / Hereditary Aortic Disease Center

Introduction

Marfan syndrome / Hereditary Aortic Disease Center
World-class aortic vascular surgery and family unit treatment of hereditary aortic disease

Marfan Syndrome and Hereditary Aortic Disease Center aims to provide world-class aortic surgery and family unit treatment and management to patients through information exchange and close consultation with various clinical departments.

A thoracic aorta aneurysm is a disease in which the aorta enlarges like a balloon. In Korea, 1,434 patients the number of thoracic aortic aneurysm cases was in 2010, 2,869 in 2015, and 4,192 in 2020, and the number of patients is doubling every five years. Among these cases, 20-25% are caused by hereditary thoracic aortic aneurysms. In fact, as the number of aortic disease diagnoses increases, the number of hereditary aortic diseases is also increasing. For example, according to data from the Health Insurance Review and Assessment Service, the number of patients with Marfan syndrome, one of the representative hereditary aortic diseases, continues to increase every year.


This is clearly a different trend from the past. Until the 1990s, aortic disease was a “silent killer.” Patient typically remained undiagnosed due to the absence of symptoms and often experienced sudden death due to aortic dissection or rupture. However, as computed tomography (CT) became widespread, the diagnosis of aortic diseases became easier, and aortic surgery became specialized, leading to a dramatic increase in successful surgical outcomes. After the 2000s, the development of molecular genetic diagnostic technology led to the emergence of “Next-Generation Sequencing” (NGS), which enabled precise and rapid diagnosis of hereditary diseases. These advancements, combined with the concept of precision medicine, have facilitated genome analysis for rare diseases, and the number of diagnoses of other hereditary aortic diseases, excluding Marfan syndrome, also began to increase. 


In line with this trend, the Ewha Womans University Aorta and Vascular Hospital has formed a team of medical professionals with experience in performing approximately 600 aortic surgeries and procedures annually, as well as approximately 3,000 aortic surgeries and procedures over the past ten years. Beyond simply treating aortic vessels, the hospital offers precise diagnoses of hereditary aortic diseases and provides comprehensive genetic and family counseling to patients, thereby opening the "Marfan Syndrome/Hereditary Aortic Disease Center" to treat them as a family unit.