Otero Luna Andrea, Park Kaylee B, Schauer Jenna, Castera Mark, Quintana Grijalba Carolina, Chikkabyrappa Sathish Mallenahalli, Tjoeng Yuen Lie, Romberg Erin K, Olson Aaron, Glass Ian A, Young Luciana
Division of Pediatric Critical Care, Department of Pediatrics, Seattle Children's Hospital and University of Washington School of Medicine, Seattle, Washington, USA.
University of Washington School of Medicine, Seattle, Washington, USA.
Am J Med Genet A. 2022 Aug;188(8):2443-2447. doi: 10.1002/ajmg.a.62865. Epub 2022 Jun 9.
We report a neonate with severe Marfan syndrome (MS), prenatally identified to have persistent atrial tachycardia, biventricular dysfunction, and an unusual structure within the atria. Detailed postnatal echocardiographic evaluation and cross-sectional imaging confirmed congenital pseudoaneurysm of the mitral-aortic intervalvular fibrosa. Emergent testing by next-generation sequencing identified a FBN1 pathological variant, key to establishing goals of care. To our knowledge, this is the first reported case of a congenital pseudoaneurysm of the mitral-aortic intervalvular fibrosa in MS.
我们报告了一名患有严重马凡综合征（MS）的新生儿，其在产前被诊断出患有持续性房性心动过速、双心室功能障碍以及心房内有异常结构。详细的产后超声心动图评估和断层成像证实为二尖瓣 - 主动脉瓣间纤维组织先天性假性动脉瘤。通过下一代测序进行的紧急检测确定了一个FBN1病理变异，这对于确立治疗目标至关重要。据我们所知，这是首例报道的马凡综合征患者二尖瓣 - 主动脉瓣间纤维组织先天性假性动脉瘤病例。
