Noonan Syndrome With Multiple Lentigines Mimicking Obstructive Hypertrophic Cardiomyopathy Treated by Septal Myectomy

努南综合征伴多发性雀斑样改变,类似梗阻性肥厚型心肌病,采用室间隔肌切除术治疗

阅读:1

Abstract

BACKGROUND: Noonan syndrome with multiple lentigines (NSML) is a rare RASopathy characterized by lentigines, craniofacial anomalies, and cardiac involvement. Hypertrophic cardiomyopathy (HCM) with left ventricular outflow tract obstruction is a frequent phenotype and may require interventional therapy. CASE SUMMARY: We present a 43-year-old woman with NSML and obstructive HCM. Despite optimized pharmacologic therapy and implantable cardioverter-defibrillator implantation, she developed progressive dyspnea and palpitations. Multidisciplinary heart team evaluation favored surgical septal myectomy with papillary muscle plasty, given unfavorable anatomy for alcohol septal ablation. Postoperative echocardiography showed marked gradient reduction and symptom relief. DISCUSSION: Approximately 5% to 10% of patients with HCM remain refractory to medical therapy. In phenocopies such as NSML, therapeutic decisions should be individualized. Surgical myectomy is a safe alternative when septal anatomy precludes alcohol septal ablation. TAKE-HOME MESSAGES: Septal reduction therapies may be considered in NSML with left ventricular outflow tract obstruction. Heart team discussion is essential. Surgical myectomy can provide sustained functional improvement.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。