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Neurofibromatosis 1-Noonan syndrome is considered a distinct clinical entity, combining characteristics of both autosomal dominant disorders: neurofibromatosis 1 and Noonan syndrome. We present the case of a 20-year-old patient clinically diagnosed with neurofibromatosis 1-Noonan syndrome, with genetic confirmation-heterozygous mutation of PTPN11 gene and a variant of uncertain significance in NF1 gene (c.2989A>G). Associated congenital heart disease was diagnosed at birth-severe pulmonary valve stenosis and infundibular pulmonary stenosis, surgically corrected at the age of one. At adult age, cardiologic assessment shows severe pulmonary regurgitation post commissurotomy, with residual large pulmonary stenosis and left ventricular apical hypertrophy, suggesting apical hypertrophic cardiomyopathy, confirmed by cardiac magnetic resonance. The patient needs periodical follow-up in order to identify the perfect timing for correction of severe pulmonary regurgitation. As there are no specific genetic therapies for neurofibromatosis 1 or Noonan syndrome, the diagnose and management of associated comorbidities is the main aspect to be taken into considered. [ABSTRACT FROM AUTHOR]

Due to recent technical developments, magnetic resonance imaging (MRI) has become one of the most attractive imaging modalities for a multitude of pathologies, offering unique information with the potential to modify diagnosis and treatment strategies in a cost-effective manner. Cardiovascular magnetic resonance (CMR) in particular has dramatically evolved to a reliable diagnostic tool bringing unique information for virtually all cardiovascular pathologies1. Patients with coronary stents, prosthetic heart valves or pacemakers and others cardiac implanted electronic devices (CIEDs) have been historically denied the opportunity to undergo clinically indicated MRI scans. As the population ages, it has been suggested that 50% to 75% of patients with CIEDs will have a clinical indication for MRI examination in their lifetimes2,3. As we are facing a growing need for MRI scans in the large population of patients with implanted cardiac devices, it is crucial to accurately inform healthcare professionals about the actually low risk of performing MRI in these patients. As a rule of thumb, virtually all patients with coronary stents, prosthetic heart valves, annuloplasty rings and MR-conditional CIEDs can safely undergo MRI scanning at 1.5 tesla, and some of them at 3 tesla3-5. Moreover, recent studies have led the scientific societies to allow MRI scanning even for patients with non-conditional CIEDs under special circumstances. This review aims to inform physicians of all specialties on how to safely indicate clinical MRI in patients with implanted cardiovascular devices based on an evidence-based approach. [ABSTRACT FROM AUTHOR]