A rare cause of recurrent aortic dissection

Area of Science:

• Cardiovascular Medicine
• Genetics
• Vascular Surgery

Background:

• Loeys-Dietz syndrome (LDS) is a rare genetic disorder affecting connective tissue, predisposing individuals to aortic aneurysms and dissections.
• Previous diagnosis of Stanford type A aortic dissection and multiple arterial aneurysms in this 19-year-old male patient.
• Genetic analysis confirmed LDS due to a transforming growth factor-β receptor 1 gene mutation.

Purpose of the Study:

• To report a unique case of Loeys-Dietz syndrome presenting with a Stanford type B aortic dissection.
• To illustrate the broad spectrum of cardiovascular manifestations in LDS.
• To emphasize the challenges in managing aortic diseases in LDS patients despite surveillance.

Main Methods:

• Case report of a 19-year-old male with a history of LDS and prior aortic interventions.
• Clinical presentation, diagnostic imaging (aortic dissection), and treatment of Stanford type B aortic dissection.
• Review of patient's medical history, including previous surgeries and genetic findings.

Main Results:

• The patient presented with acute back and chest pain, diagnosed as Stanford type B aortic dissection.
• Thoracic aorta endovascular repair was successfully performed for the dissection.
• Despite a history of type A dissection, multiple aneurysms, and ongoing medical management, a new type B dissection occurred.

Conclusions:

• This case underscores the aggressive and unpredictable nature of aortic disease in Loeys-Dietz syndrome.
• Regular surveillance and aggressive management may not always prevent new or progressive aortic events in LDS patients.
• LDS necessitates lifelong, comprehensive cardiovascular monitoring and tailored treatment strategies.