Elsevier

The Annals of Thoracic Surgery

Volume 83, Issue 2, February 2007, Pages S757-S763
The Annals of Thoracic Surgery

Session I
Ascending aorta
Early Surgical Experience With Loeys-Dietz: A New Syndrome of Aggressive Thoracic Aortic Aneurysm Disease

Presented at Aortic Surgery Symposium X, New York, NY, April 27–28, 2006.
https://doi.org/10.1016/j.athoracsur.2006.10.091Get rights and content

Background

Loeys-Dietz syndrome (LDS) is a recently described genetic aortic aneurysm syndrome resulting from mutations in receptors for the cytokine transforming growth factor-β. Phenotypic features include a bifid uvula, hypertelorism, cleft palate, and generalized arterial tortuosity, but risk of thoracic aortic rupture and dissection is the principle focus of management and exceeds that of most known connective tissue disorders. Our surgical experience with LDS was reviewed to assess outcomes and develop guidelines for management of this aggressive disease.

Methods

We retrospectively reviewed medical records of all LDS patients from two institutions and obtained follow-up data from medical records and patient contacts.

Results

Clinical criteria and genotyping were used to identify 71 patients. Before surgical intervention, 6 patients (9%) died from aneurysm rupture or dissection, which occurred in several patients with aortic diameters of less than 4.5 cm and as early as 6 months of age. Thoracic aortic aneurysm surgery was performed in 14 children and 7 adults. Operations included valve-sparing root replacement (VSRR) in 13, Bentall procedure in 5, arch replacement in 2, and VSRR with arch replacement in 1. There were no deaths at the primary operation, although 3 patients died 2, 5, and 11 years after surgery from rupture of the descending thoracic (n = 2) or abdominal aorta (n = 1).

Conclusions

LDS is an aggressive aortic aneurysm disease with a propensity toward rupture and dissection at a younger age and smaller aortic diameters than in other connective tissue disorders, particularly in the ascending aorta. Early recognition of the phenotype, prophylactic intervention, and meticulous surveillance of the distal aorta and vascular tree are warranted for optimal management.

Section snippets

Patient Selection

After obtaining Institutional Review Board approval, we retrospectively reviewed the medical records of all patients with the diagnosis of LDS. Informed consent was waived because of the retrospective nature of this study. In some instances, patients were evaluated and treated before the initial description of LDS, and some initially had been referred to our institutions as patients with Marfan syndrome.

Patients from The Johns Hopkins Medical Institutions, Baltimore, Maryland, and the Ghent

Results

Clinical criteria and genotyping identified 71 patients with LDS, of whom 32 (45%) were children, and 39 (55%) were adults. Six (9%) died before surgery at our institutions from aneurysm rupture or intracerebral hemorrhage. Aortic surgery was performed in 30% of patients (21/71), and 62% (44/71) are medically managed or are awaiting surgery. Of the surgically treated patients, 62% (13/21) had a preoperative diagnosis of LDS; whereas, 38% (8/21) were diagnosed postoperatively when the genetic

Comment

The TGF-β family of cytokines consists of more than two dozen signaling molecules secreted into the extracellular matrix [6]. These molecules act through a complex signaling pathway on multiple cell types to effect growth and development of normal cells [7, 8]. Actions of TGF-β molecules lead to cellular differentiation, proliferation, motility, organization, and death [6]. These cytokines have been specifically implicated in cardiovascular development and function [9]. TGF-β molecules guide

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