Open Repair For Large, Rapidly-Expanding Abdominal Aortic Aneurysm In A Patient With Type II Loeys-Dietz Syndrome Variant.
Jonathan Lee, MD, Kenneth Nakazawa, MD, Jani Lee, MD, Rami Tadros, MD, Peter Faries, MD, Ageliki Vouyouka, MD.
Mount Sinai Hospital, New York, NY, USA.
Demographics: We present a rare variant of type II Loeys-Dietz Syndrome (LDS) resulting in late manifestation of a rapidly expanding abdominal aortic aneurysm (AAA) in a 73-year-old African American female.
History: Our patient has a history of multiparity, hypertension, non-smoker who was referred for large tortuous varicose veins when a 3.5cm infrarenal AAA was incidentally found on CT. She was lost to follow-up, but returned 2 years later when CTA demonstrated aneurysmal growth to 5.9cm (Fig. 1A). Surveillance carotid duplex also demonstrated significant tortuosity and beaded appearance, which was confirmed with CTA (Fig. 1B). She carried six pregnancies to term, but one died in infancy from cardiopulmonary complications. Her sister and daughter were also diagnosed with AAA. Phenotypic signs of hypermobility and craniofacial abnormalities were negative. Genetic screening panel revealed a mutation of unknown clinical significance in TGFBR2 (p.Val376Leu) leading to the diagnosis of type II LDS.
Plan: We opted against endovascular intervention and recommended open repair. Exposure was obtained through a transabdominal incision. Proximal and distal control were obtained below the renal arteries and bilateral common iliac arteries (CIA), respectively. Her iliacs were noted to be extremely tortuous. A bifurcated 16 x 14mm Dacron graft was sewn proximally to infrarenal aorta in end-to-end fashion with felt reinforcement, followed by distal anastomoses to each CIA (Fig. 1C). Aneurysm sac was closed, retroperitoneum reapproximated, and abdomen closed in standard fashion. She was extubated on POD 1. Repeat CTA demonstrated no anastomotic pseudoaneurysms (Fig. 1D). She was discharged on POD 6.
Discussion: LDS is a rare autosomal dominant mutation of TGFBR1/2, characterized by arterial tortuosity and early aortic root complications with a mean age of death at 26. Other features include pregnancy-related complications, spontaneous intestinal rupture, and craniofacial abnormalities. Our patient did not demonstrate any previously described phenotypic characteristics except severe arterial tortuosity. Additionally, her aortopathy was isolated to her abdominal aorta in her 70s. Her delayed manifestation may be from reduced penetrance inherent to her mutation or genetic mosaicism, which will be further elucidated from family genetic testing and long-term follow-up. 
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