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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]

State-of-the-art magnetic resonance (MR) imaging using tissue specific contrast media facilitates detection and characterization in most cases of hepatic nodules. According to the currently used nomenclature, in liver cirrhosis there are only two major types of hepatocellular nodular lesions: regenerative lesions and dysplastic or neoplastic lesions. The purpose of this clinical imaging review is to provide information on the properties of tissue-specific MR contrast agents and on their usefulness in the demonstration of the pathologic changes that take place at the level of the hepatobiliary and reticuloendothelial systems during the carcinogenesis in liver cirrhosis.

In this educational presentation, we offer an overview of acquired anomalies of the portal venous system explored by biphasic helical CT and MRI. Portosystemic collateral vessels, cavernous transformation of the portal vein, intrahepatic vascular shunts, aneurysms of the portal venous system, thrombosis of the portal venous system, and gas in the portal venous system will be discussed. For liver surgery and interventional procedures it is necessary to have a correct mapping of normal anatomy, variants, and different pathologies involving the portal venous system.

The liver has a unique dual blood supply from the hepatic artery (25%) and the portal vein (75%). Helical computer tomography (CT) and also magnetic resonance imaging (MRI) are suitable techniques for hepatic imaging. Helical CT and MR angiography allow single breath-hold scanning without motion artifacts. This article illustrates helical CT and MRI findings of different types of hepatic perfusion disorders. Because of rapid image acquisition, three-phase (hepatic arterial phase, portal venous phase and parenchymal phase) CT or MR-angiography evaluation of the hepatic parenchyma is possible, improving perfusion disorders evaluation, tumors detection and characterization in a single study. We classified hepatic perfusion abnormalities in: portal disorders, arterial disorders, hepatic veins abnormalities, intrahepatic vascular communication, hepatic lesions and perfusion disorders and other causes. Differential diagnosis and pitfalls of these entities must be known for a correct diagnosis of focal hepatic lesions.