Familial visceral branch artery aneurysms in Loeys-Dietz syndrome.
Michelle S LimKacie SteinbrecherAndrew W KoefoedAlan C BravermanPublished in: BMJ case reports (2024)
Loeys-Dietz syndrome (LDS) is an autosomal dominant heritable disorder due to pathogenic variants in one of several genes involved in TGF-β (transforming growth factor-beta) signalling. LDS is associated with aortic aneurysm and dissection. LDS may also lead to extra-aortic aneurysms, the majority of which occur in the head and neck vasculature. Visceral aneurysms are uncommon, and no cases of distal superior mesenteric artery (SMA) branch aneurysms in patients with LDS have been reported. Three related females with TGFBR1 -related LDS developed distal SMA branch artery aneurysms involving the ileocolic and jejunal arteries. Endovascular or surgical intervention was performed in each. The presence and severity of arterial, craniofacial, and cutaneous features of LDS in these patients are variable. TGFBR1 -related LDS may rarely lead to SMA branch artery aneurysms that can develop later in life. Surgical and endovascular procedures can successfully treat these aneurysms, but data to guide size thresholds and optimal treatment strategies are lacking.
Keyphrases
- transforming growth factor
- epithelial mesenchymal transition
- end stage renal disease
- randomized controlled trial
- chronic kidney disease
- minimally invasive
- insulin resistance
- heart failure
- adipose tissue
- case report
- pulmonary artery
- prognostic factors
- metabolic syndrome
- left ventricular
- machine learning
- signaling pathway
- skeletal muscle
- pulmonary hypertension
- pulmonary arterial hypertension
- drug induced
- blood flow
- patient reported