Andreola Joseph, Shugh Svetlana, Winchester Robert, Fricker Fredrick, Chrisant Maryanne, D'Addese Laura
The Heart Institute, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.
Congenital Heart Center at UF Health, Gainesville, FL, USA.
Pediatr Cardiol. 2025 Feb 25. doi: 10.1007/s00246-025-03812-w.
Noonan syndrome is an autosomal dominant genetic condition associated with cardiac manifestations that may necessitate heart transplantation. This case series describes the short- and medium-term outcomes in five patients with Noonan syndrome status-post heart transplant followed at our institution. Retrospective, single center chart review of the electronic medical record in post-heart transplant patients with a diagnosis of Noonan syndrome. Five out of 88 heart transplant patients at our institution had genetically confirmed Noonan syndrome with either RAF1 or PTPN11 mutations. All patients were noted to have hypertrophic cardiomyopathy. Severe outflow tract obstruction, in conjunction with comorbidities such as intractable arrhythmias, recurrent syncope, and failure to thrive were leading indications for heart transplant. The most common complications post-heart transplant included recurrent viral infections and pleural and pericardial effusions. Isolated complications included lymphangiectasias, posterior reversible encephalopathy syndrome, and aspergillus pneumonia. Feeding difficulties were common. All patients are alive at the time of this publication. Noonan syndrome is highly associated with hypertrophic cardiomyopathy, and severe cases may necessitate heart transplantation. The post-heart transplant complications seen in our cohort are not unique to the Noonan syndrome population. Survival post-heart transplant is high.
努南综合征是一种常染色体显性遗传病，伴有可能需要心脏移植的心脏表现。本病例系列描述了我院随访的5例心脏移植术后努南综合征患者的短期和中期结局。对我院诊断为努南综合征的心脏移植术后患者的电子病历进行回顾性单中心图表审查。我院88例心脏移植患者中有5例经基因证实患有努南综合征，存在RAF1或PTPN11突变。所有患者均被诊断为肥厚型心肌病。严重的流出道梗阻，以及难治性心律失常、反复晕厥和生长发育不良等合并症是心脏移植的主要指征。心脏移植术后最常见的并发症包括反复病毒感染、胸腔和心包积液。孤立的并发症包括淋巴管扩张、后部可逆性脑病综合征和曲霉菌性肺炎。喂养困难很常见。在本出版物发表时，所有患者均存活。努南综合征与肥厚型心肌病高度相关，严重病例可能需要心脏移植。我们队列中观察到的心脏移植术后并发症并非努南综合征患者所特有。心脏移植术后生存率很高。
