Author + information
- Amina Adil,
- Dhruv Chawla,
- Ali Shafiq,
- Eric Weiss,
- Anthony DeFranco and
- A. Jamil Tajik
Thoracic aortic aneurysms (TAAs) are genetically triggered in about 5% of cases and include Marfan, Loeys-Dietz (LDS) and Ehlers-Danlos syndromes.
A 61-year-old female with a history of paroxysmal atrial fibrillation presented with one hour of severe neck, chest and abdominal pain. Blood pressure was 116/46 mmHg. Examination revealed no syndromic facies or appreciable murmur and bilateral equal pulses in all extremities. Electrocardiogram was non-ischemic. Troponin and chest X-ray were normal. CT angiography revealed ascending aortic aneurysm (6 × 5.1 cm) with dissection extending from the aortic root to the left internal iliac. Aneurysms were also noted in the infrarenal abdominal aorta, right and left common iliac. She subsequently underwent emergent surgery.
Family history revealed two siblings and an aunt who had aortopathies requiring surgical repair. Genetic testing revealed a mutation in transforming growth factor beta-receptor 2 (TGFBR2). This was first discovered in LDS and now has been associated with familial thoracic aortic aneurysm. Several other relatives are also positive for affected gene (Fig). A diagnosis of adult type LDS was made. Treatment with losartan and metoprolol was initiated.
Genetic causes of inherited aortopathies should be entertained to help identify patients for early surgical intervention and appropriate medical management. At-risk family members can also be identified for screening and treatment.
Poster Hall, Hall A/B
Saturday, March 10, 2018, 10:00 a.m.-10:45 a.m.
Session Title: FIT Clinical Decision Making: Interventional Cardiology, Ischemic Heart Disease and Vascular Medicine
Abstract Category: Vascular Medicine
Presentation Number: 1108-129
- 2018 American College of Cardiology Foundation