Preventive Aortic Surgery Shows Positive Outcomes For Patients with Loeys-Dietz Syndrome

San Diego: Cleveland Clinic researchers found that patients with Loeys-Dietz Syndrome (LDS) had better outcomes when they were treated early with preventative aortic surgery.

The research was presented at the American Association for Thoracic Surgery’s 98th Annual Scientific Session and simultaneously published in the Journal of Thoracic and Cardiovascular Surgery.

LDS is a recently recognized disease, identified in 2005 as a connective tissue disorder caused by a genetic mutation. It’s often characterized by enlargement of the aorta and the rapid development of aortic aneurysms, if not treated prior to aortic dissection, which is a life-threatening tear of the aorta.

“Loeys Dietz is an uncommon inherited disorder that we have begun to understand better because of tissue research and genetic analysis,” said Lars Svensson, M.D., chair of the Miller Family Heart & Vascular Institute. “Our research following these patients shows prophylactic surgery is very safe and effective in preventing death overtime.”

Over the past decade, Cleveland Clinic has developed a registry for LDS patients at the Aorta Center in the Heart & Vascular Institute at Cleveland Clinic. Fifty-three LDS patients were retrospectively identified and reviewed who had been medically treated or underwent surgical management at Cleveland Clinic prior to April 2017. Primary outcomes evaluated were postoperative in-hospital morbidity and mortality; secondary end points were aorta-related reoperations and short- and long-term mortality. Survival by Kaplan-Meier analysis was 89 percent at 10 years.

Of the 53 patients with genetically confirmed LDS included in the analysis, 33 (62 percent) underwent aortic surgery and 20 had not required aortic surgery as of last follow-up through April 2017. The latter 20 patients were treated medically (aggressive blood pressure control to minimize aortic wall stress) and received ongoing clinical and radiologic surveillance; these patients constituted the “non-aortic surgery group.”

Among the 33 patients who had aortic surgery, mean age at the index operation was 39 years (four patients were younger than 18) and maximum aortic diameter was 4.3 cm. Among the 20 patients in the non-aortic surgery group, mean age was 23 years and maximum aortic diameter was 3.4 cm.

LDS is considered an autosomal-dominant connective tissue disorder caused by a mutation in two transforming growth factor β receptor genes. Lifelong management for LDS patients is crucial to a long-term successful prognosis and to avoid aortic dissections.