Key result
Valve-sparing aortic root replacement succeeds in an 18-month-old with Loeys-Dietz syndrome and progressive aortic dilation.
Why the study?
Loeys-Dietz syndrome is associated with aggressive vascular disease, including predisposition to aortic root aneurysms and dissection.
Case Report (n=1)
Demonstrates the feasibility of early valve-sparing aortic root replacement in an 18-month-old with high-risk Loeys-Dietz syndrome.
May inform early surgical timing in high-risk infants; leaves open durability and broader applicability.
BACKGROUND: Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder that is associated with aggressive vascular disease, including predisposition to aortic root aneurysms and dissection. CASE SUMMARY: An 18-month-old boy was referred to our hospital with a diagnosis of LDS with TGFBR2 mutation because of concern for progressive aortic dilation. Despite antihypertensive therapy, aortic root dilation advanced significantly to 3.7 cm (z score: +19.2) at a rate of 1.2 cm/y, and an aortic annulus to 16 mm (z score: +6.5), mandating early valve-sparing aortic root replacement. DISCUSSION: We demonstrate successful valve-sparing aortic root replacement in an extremely early case of an 18-month-old with LDS. Children with LDS with high-risk features may benefit from closer follow-up of aortic root growth. TAKE-HOME MESSAGES: Patients with high-risk LDS need closer follow-ups and genetic consultation to determine the association with aggressive patterns because earlier surgical intervention may become mandatory in this group.
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Almiqlash et al. (2025) conducted a case report in Loeys-Dietz syndrome type II with progressive aortic dilation (n=1). Valve-sparing aortic root replacement was evaluated on Successful valve-sparing aortic root replacement. Valve-sparing aortic root replacement was successfully performed in an 18-month-old boy with Loeys-Dietz syndrome type II and progressive aortic dilation.
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