H S Natraj Setty, S Shankar, Patil Rahul, Jadhav Santosh, M C Yeriswamy, Reddy Babu, Kharge Jayashree, Raghu T R, Shankar Sandeep, Raj Sathwik, N Chethan, M Nithin, Manjunath C N
Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bangalore, Karnataka, India.
Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bangalore, Karnataka, India.
Int J Surg Case Rep. 2020;72:32-36. doi: 10.1016/j.ijscr.2020.05.048. Epub 2020 May 30.
Noonan syndrome is the second most common syndromic cause of congenital heart disease. Most patients have an autosomal dominant inheritance, but some cases may be sporadic. Pulmonary stenosis is the most common cardiac manifestation in Noonan syndrome, associated with the atrial septal defect and hypertrophic cardiomyopathy. A combination of these three is present only in 5% of patients.
We report a case of a 21-year-old female who presented to our hospital concomitant cardiac lesions associated with pulmonary stenosis, atrial septal defect, and hypertrophic cardiomyopathy. This combination of cardiac defects is an infrequent manifestation of Noonan syndrome. The patient presented with complaints of exertion syncope over the past two years. 2D-Echocardiography showed biventricular hypertrophy, dysplastic pulmonary valve, severe pulmonary stenosis, asymmetric septal hypertrophy and large atrial septal defect. The genetic analysis report showed autosomal dominant inheritance with Ras/MAPK (mitogen-activated protein kinase) Positive.
Due to the wide spectrum of symptoms and presentations in Noonan cases, accurate clinical and genetic diagnosis, and comprehensive management of the disorder are strongly recommended.
We have described a case of rare combination of cardiovascular defects in Noonan Syndrome with a view to achieve better insight into the disease course and advantages of timely treatment and follow up. Our patient is currently in follow-up after treatment with percutaneous balloon pulmonary valvuloplasty, has improved symptoms, and is awaiting heart transplant.
努南综合征是先天性心脏病第二常见的综合征病因。大多数患者为常染色体显性遗传，但部分病例可能为散发性。肺动脉狭窄是努南综合征最常见的心脏表现，与房间隔缺损和肥厚型心肌病相关。这三种情况同时出现的患者仅占5%。
我们报告一例21岁女性患者，她因伴有肺动脉狭窄、房间隔缺损和肥厚型心肌病的心脏病变前来我院就诊。这种心脏缺陷组合是努南综合征的罕见表现。患者在过去两年中有劳力性晕厥的主诉。二维超声心动图显示双心室肥厚、发育异常的肺动脉瓣、严重的肺动脉狭窄、不对称性室间隔肥厚和大的房间隔缺损。基因分析报告显示为常染色体显性遗传且Ras/丝裂原活化蛋白激酶（MAPK）呈阳性。
由于努南综合征病例的症状和表现范围广泛，强烈建议进行准确的临床和基因诊断以及对该疾病的综合管理。
我们描述了一例努南综合征中罕见的心血管缺陷组合病例，以期更好地了解疾病进程以及及时治疗和随访的优势。我们的患者目前在接受经皮球囊肺动脉瓣成形术后进行随访，症状已有所改善，正在等待心脏移植。
