JACC. Case reports · 2026
MYLK Variants of Uncertain Significance as Risk Factors for Aortic Dissection.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Lee Chanseo, Dankwa Sedem, Cupo Michela, Lee Jaihyoung, Lei Yona, Talapaneni Sriharsha, Hameed Irbaz, Vallabhajosyula Prashanth
Аннотация
BACKGROUND: Myosin light chain kinase (MYLK) variants of uncertain significance (VUS) are not considered actionable under current guidelines, yet MYLK encodes a kinase essential for vascular smooth muscle contractility, and pathogenic variants are associated with aortic dissection at modest diameters.
CASE SUMMARY: We report 8 patients carrying MYLK variants (7 VUS, 1 pathogenic) who developed aortic dissection requiring surgery. In our institutional registry of 1,048 patients undergoing aortic genetic panel testing, MYLK carriers had higher rates of acute aortic syndromes, namely Type A dissections.
DISCUSSION: Four phenotypic patterns emerged: dissection at aortic diameters of 40 mm (below guideline thresholds); reoperation at a median of 7 vs 24 months in non-MYLK dissection patients; co-occurring ACTA2 VUS suggesting oligogenic risk amplification; and intrapedigree VUS-to-pathogenic reclassification of the same MYLK V1522A variant across 2 timepoints and testing facilities.
CONCLUSIONS: The MYLK variant patient journeys support lower surveillance thresholds and cascade genetic screening.
CASE SUMMARY: We report 8 patients carrying MYLK variants (7 VUS, 1 pathogenic) who developed aortic dissection requiring surgery. In our institutional registry of 1,048 patients undergoing aortic genetic panel testing, MYLK carriers had higher rates of acute aortic syndromes, namely Type A dissections.
DISCUSSION: Four phenotypic patterns emerged: dissection at aortic diameters of 40 mm (below guideline thresholds); reoperation at a median of 7 vs 24 months in non-MYLK dissection patients; co-occurring ACTA2 VUS suggesting oligogenic risk amplification; and intrapedigree VUS-to-pathogenic reclassification of the same MYLK V1522A variant across 2 timepoints and testing facilities.
CONCLUSIONS: The MYLK variant patient journeys support lower surveillance thresholds and cascade genetic screening.