Heart Transplantation Outcomes in Pediatric Patients with Noonan Syndrome: An Institutional Case Series.

Abstract

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.