Extended Root and Arch Replacement for Filamin A-Related Aortopathy With Severe Aortic Regurgitation

针对伴有严重主动脉瓣反流的丝状蛋白A相关性主动脉病,行根部和弓部扩大置换术

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Abstract

BACKGROUND: Filamin A (FLNA)-related disease is an emerging heritable aortopathy; however, evidence guiding surgical thresholds and the extent of aortic replacement remains limited. CASE SUMMARY: A 34-year-old woman had progressive postpartum dyspnea and severe aortic regurgitation from right coronary cusp bending, fenestration, and prolapse. Imaging showed a 53-mm ascending aortic aneurysm, and genetic testing identified a pathogenic FLNA variant. She underwent bioprosthetic aortic root and total arch replacement. Histopathology showed diffuse medial degeneration in the aortic root, ascending aorta, and aortic arch, along with severe right coronary cusp degeneration. DISCUSSION: Prior reports describe aortic rupture at modest diameters and dilation of unreplaced segments. This case demonstrates histopathologic pan-aortic involvement despite focal imaging, and it supports considering extended replacement once standard surgical criteria are met in selected patients. TAKE-HOME MESSAGES: FLNA aortopathy warrants pan-aortic surveillance. When technically and physiologically feasible, extended graft replacement may be considered in selected patients.

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