Video-Assisted Minimally Invasive Endoscopic Aortic Valve Replacement in a Patient With Alkaptonuria.

BACKGROUND

Alkaptonuria is a rare metabolic disorder causing homogentisic acid accumulation, leading to ochronotic pigmentation and associated cardiac complications, including aortic valve disease. Although its exact role in aortic stenosis is unclear, pigment deposition may accelerate degeneration.

CASE SUMMARY: A 75-year-old patient with alkaptonuria and ochronotic aortic valve stenosis successfully underwent a video assisted, minimally invasive endoscopic aortic valve replacement (AVR). The procedure used the novel automated suturing device RAM 5.0 (LSI SOLUTIONS®) and Cor-Knot device (LSI SOLUTIONS®).

DISCUSSION: Although uncommon, the prevalence of ochronotic aortic valve disease associated with alkaptonuria increases with age, often requiring AVR. The impact of homogentisic acid and recurrence of ochronosis on bioprosthetic aortic valves is still unclear, and there is no standardized approach.

TAKE-HOME MESSAGES: Alkaptonuria, though rare, can contribute to aortic valve stenosis through ochronotic degeneration. Minimally invasive AVR should be considered for eligible patients, especially as aortic valve disease prevalence increases with age.