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Updated: Jul 16, 2026
06:08
Ultrasound Imaging of the Thoracic and Abdominal Aorta in Mice to Determine Aneurysm Dimensions
Published on: March 8, 2019
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation
Scott A LeMaire1, Hariyadarshi Pannu, Van Tran-Fadulu
1Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas, USA.
Nature Clinical Practice. Cardiovascular Medicine
|March 3, 2007
Summary
This case study highlights a patient with Loeys-Dietz syndrome, initially diagnosed with Marfan syndrome. Aggressive cardiovascular surveillance and surgical management were crucial for preventing complications from rapidly progressing vascular disease.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Vascular Surgery
Background:
- A 24-year-old male with a history of Marfan syndrome presented with extensive cardiovascular disease.
- The patient had undergone eight cardiovascular procedures since age 9 for progressive aneurysms and dissections.
Observation:
- The patient exhibited diffuse and rapidly progressing vascular disease affecting multiple major arteries.
- Initial diagnosis was Marfan syndrome, but re-evaluation led to a diagnosis of Loeys-Dietz syndrome.
Findings:
- Genetic testing identified a de novo mutation in the transforming growth factor beta receptor 2 (TGFBR2).
- Despite extensive vascular disease, the patient recovered well from multiple cardiovascular surgeries without neurological or renal complications.
Implications:
- This case underscores the importance of accurate genetic diagnosis in complex vascular syndromes.
- Aggressive multidisciplinary management, including regular surveillance and surgical intervention, is vital for patients with Loeys-Dietz syndrome.
- Early identification and tailored treatment strategies can improve outcomes in patients with inherited connective tissue disorders affecting the vasculature.
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