Multidisciplinary Approach in Loeys-Dietz Syndrome and Complex Aortic Disease

P0223 

Abstract Submission 

Lucas Ribe (1), Yuki Ikeno (1), Milan Jaiswal (2), Rana Afifi (3), Akiko Tanaka (4), Anthony Estrera (4), Siddharth Prakash (5)

(1) McGovern Medical School at UTHealth, Houston, TX, (2) Memorial Hermann Hospital. UTHealth., Houston, TX, (3) Memorial Hermann, Houston, TX, (4) Memorial Hermann Heart and Vascular Institute, Houston, TX, (5) N/A, Houston, TX

Lucas Ribe    -  Contact Me
McGovern Medical School at UTHealth

Yuki Ikeno    -  Contact Me
McGovern Medical School at UTHealth

Milan Jaiswal    -  Contact Me
Memorial Hermann Hospital. UTHealth.

Rana Afifi    -  Contact Me
Memorial Hermann

Akiko Tanaka    -  Contact Me
Memorial Hermann Heart and Vascular Institute

*Anthony Estrera    -  Contact Me
Memorial Hermann Heart and Vascular Institute

Siddharth Prakash    -  Contact Me
N/A

Lucas Ribe    -  Contact Me
McGovern Medical School at UTHealth

Objective:

Genetic factors can play a significant role in the development of thoracic aortic disease (TAD). Around 20% of individuals with a TAD have a first-degree relative with aortic dilatation. One example is the TGFB2 gene, which is associated with Loeys-Dietz syndrome (LDS). Since the clinical presentation of these types of diseases can vary between patients, a multidisciplinary care team is important for proper management of the patient.

Methods:
The multidisciplinary approach is designed for complex aortic disease patients and developing a patient care plan from the expertise of a panel of specialists. In this report, we highlight the unique management of four individuals with distinct presentations of LDS in the context of aortic disease.

Results:
A 33-year-old female physician is evaluated after presenting to the emergent department (ED) with crushing substernal chest pain, visual changes, and lower extremity weakness. She was diagnosed with an acute Type A aortic dissection involving the root and proximal ascending aorta. Emergent valve-sparing root and ascending replacement (David procedure) was performed. At 18 weeks after surgery, a repeat computed tomography angiogram (CTA) demonstrated progressive dilation of the proximal descending thoracic aorta to 4.2 cm. Genetic tests identified a pathogenic variant in TGFB2 (p.Y126Sfs*19) that is consistent with LDS.
A 33-year-old man presented to the ED with chest tightness, neck pain, and moderate exertional dyspnea. CTA disclosed an acute Type A aortic dissection involving the root and proximal ascending aorta. He underwent emergent aortic mechanical valve replacement with a composite graft (modified Bentall procedure) and replacement of the ascending aorta and hemiarch. Within 3 years, the diameter of the brachiocephalic artery (2.9 cm), aortic arch (4.2 cm), and proximal descending thoracic aorta (5.4 cm) had significantly increased. Genetic tests identified a pathogenic variant in TGFB2 (p.R330C) that is consistent with LDS.
A 30-year-old female initially presented to the ED with chest pain and exertional dyspnea. CTA disclosed an acute Type A aortic dissection involving the aortic root, right coronary artery, and proximal ascending aorta, with her aortic root measuring 5.0 cm. She underwent aortic valve, root, and ascending replacement with a porcine bioprosthetic valve. Genetic testing revealed a pathogenic variant in TGFB2 (p.C380F), consistent with the diagnosis of LDS.
A 43-year-old female presented to the ED with dyspnea and chest pain. CTA revealed a Type A aortic dissection involving the aortic root, ascending aorta, transverse arch, extending to the descending thoracic aorta (DTA) and infrarenal aorta. Echocardiogram identified a moderately dilated aortic root aneurysm (4.6 cm) with severe aortic regurgitation. She underwent urgent modified Bentall repair with a mechanical aortic prosthesis. This patient is the sister of the patient described as the third case and carries the same pathogenic variant of TGFB2 (p.C380F). She is currently under close surveillance with annual imaging.

Conclusions:
These cases illustrate the various clinical manifestations of LDS and the high risk of developing subsequent arterial disease after the index event. LDS patients require lifelong management and follow-up to prevent deaths due to recurrent aortic events.

Dissection