Domínguez-López Jose Alberto, Teco-Mendoza Davina Desireé, Mendoza-Razo Luis E
Genetics, Universidad Autónoma de Chiapas, Instituto de Salud del Estado de Chiapas, Tuxtla Gutiérrez, MEX.
General Medicine, Instituto de Salud de Chiapas, Tuxtla Gutiérrez, MEX.
Cureus. 2025 Apr 11;17(4):e82109. doi: 10.7759/cureus.82109. eCollection 2025 Apr.
A 29-year-old postpartum woman with no prior Noonan syndrome diagnosis was admitted for recurrent chest pain, dyspnea, and palpitations. She had two adverse pregnancy outcomes, including a neonatal death due to perinatal asphyxia. Physical examination revealed characteristic facial features, and echocardiography confirmed biventricular failure, hypertrophic cardiomyopathy, and a 2.5 cm intracavitary thrombus in the left ventricle. She was treated with heart failure management, anticoagulation, and diuretics before being referred to a specialized cardiology center. This case highlights the challenges in diagnosing and managing cardiovascular complications in suspected Noonan syndrome.
一名29岁既往未诊断为努南综合征的产后女性因反复胸痛、呼吸困难和心悸入院。她有两次不良妊娠结局,包括一次因围产期窒息导致的新生儿死亡。体格检查发现特征性面部特征,超声心动图证实双心室衰竭、肥厚型心肌病以及左心室内一个2.5厘米的腔内血栓。在被转诊至专业心脏病中心之前,她接受了心力衰竭管理、抗凝和利尿剂治疗。该病例凸显了疑似努南综合征患者心血管并发症诊断和管理方面的挑战。