Saccocci Matteo, Ferraro Francesco, Blasi Stefania, Del Zanna Niccolò, Villa Emmanuel, Messina Antonio, Cirillo Marco, Mhagna Zean, Tomba Margherita Dalla, Troise Giovanni
Cardiac Surgery Unit, Cardiovascular Department, H Poliambulanza Foundation, Brescia, Italy.
Department of Cardiovascular Surgery, University Hospital Policlinico A. Gemelli, Rome, Italy.
Heart Views. 2021 Jul-Sep;22(3):214-219. doi: 10.4103/HEARTVIEWS.HEARTVIEWS_17_21. Epub 2021 Oct 11.
The neurofibromatosis is a large class of different genetic disorders: Neurofibromatosis type 1, type 2, type 3 (or Schwannomatosys), which have different clinical characterization. Neurofibromatosis type 1 (NF1), also known as Von Recklinghausen disease, represents 95% of the total cases. It is a complex autosomal dominant disorder with multisystem involvement, frequently associated to cardiac malformation. We present the case of a 52-years-old male affected by NF-1 with severe tricuspid regurgitation and atrial septal defect (ASD). No previous report about tricuspid valve surgery in NF-1 are available in the literature. A complete perioperative assessment was performed, including dermatologist evaluation, angio-CT scan and transesophageal echocardiography. The patient underwent uneventfully tricuspid valve replacement and ASD closure, with no wound complication even at 6-months follow-up. Treating congenital malformation in patient with complex genetic disorders like NF-1 is safe and can be resolutive, permitting to reduce long-term risk of complications for the patients. Preoperative assessments are fundamental, as well as in-hospital care and expertise on congenital heart defects.
1型、2型、3型神经纤维瘤病(或施万细胞瘤病),它们具有不同的临床特征。1型神经纤维瘤病(NF1),也称为冯雷克林霍增氏病,占所有病例的95%。它是一种复杂的常染色体显性疾病,累及多个系统,常与心脏畸形相关。我们报告一例52岁男性患者,患有NF-1,伴有严重三尖瓣反流和房间隔缺损(ASD)。文献中尚无关于NF-1患者三尖瓣手术的既往报道。进行了全面的围手术期评估,包括皮肤科医生评估、血管CT扫描和经食管超声心动图检查。患者顺利接受了三尖瓣置换和ASD闭合手术,即使在6个月的随访中也没有伤口并发症。治疗患有NF-1等复杂遗传性疾病的患者的先天性畸形是安全的,并且可以解决问题,从而降低患者长期并发症的风险。术前评估至关重要,先天性心脏缺陷的院内护理和专业知识也同样重要。