Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders. First described in 2008 in an American-Italian family with scapuloperoneal myopathy, FHL1 gene encodes four-and-a-half LIM domains 1 proteins which are involved in sarcomere formation, assembly and biomechanical stress sensing both in cardiac and skeletal muscle, and its mutations are responsible for a large spectrum of neuromuscular disorders (mostly myopathies) and cardiac disease, represented by HCM, either isolated, or in conjunction with neurologic and skeletal muscle impairment. We thereby report a novel mutation variant in FHL1 structure, associated with HCM and type 6 Emery-Dreifuss muscular dystrophy (EDMD). CASE PRESENTATION: We describe the case of a 40 year old male patient, who was referred to our department for evaluation in the setting of NYHA II heart failure symptoms and was found to have HCM. The elevated muscular enzymes raised the suspicion of a neuromuscular disease. Rigid low spine and wasting of deltoidus, supraspinatus, infraspinatus and calf muscles were described by the neurological examination. Electromyography and muscle biopsy found evidence of chronic myopathy. Diagnosis work-up was completed by next-generation sequencing genetic testing which found a likely pathogenic mutation in the FHL1 gene (c.157-1G > A, hemizygous) involved in the development of X-linked EDMD type 6. CONCLUSION: This case report highlights the importance of multimodality diagnostic approach in a patient with a neuromuscular disorder and associated hypertrophic cardiomyopathy by identifying a novel mutation variant in FHL1 gene. Raising awareness of non-sarcomeric gene mutations which can lead to HCM is fundamental, because of diagnostic and clinical risk stratification challenges.

Tissue specific MR contrast media role in the differential diagnosis of cirrhotic liver nodules.

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.

Hepatic perfusion disorders: Computer-tomographic and magnetic resonance imaging.

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.

CT and MRI of acquired portal venous system anomalies.

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.

Chemoembolization in the treatment of metastatic ileocolic carcinoid.

Carcinoid tumours are enigmatic, slow growing malignancies, which occur most frequently (74%) in the gastrointestinal tract. Symptoms of the carcinoid syndrome (flushing and diarrhoea) are infrequent, occurring in approximately 10% of the patients with small bowel carcinoid. A 45-year-old patient with multiple liver metastases, diagnosed in 1994 with nonHodgkin's lymphoma after undergoing surgery for a distal ileal tumour, was referred to us by the Department of Haematology. At that moment the issue of a differential diagnosis with a carcinoid tumour arose, due to the long evolution and lack of evidence to support the initial diagnosis. The carcinoid syndrome was in fact present (the patient experiencing flush after small amounts of alcohol and emotions) and also we identified elevated values of 5HIAA. Reevaluation of the histologic sections of the ileal tumour as well as an ultrasound guided fine needle aspiration of an intrahepatic lesion confirmed the diagnosis of "carcinoid tumour". This conclusion lead to new therapeutic options for this patient. One of the main therapeutic options used in treating multiple liver metastases from a carcinoid tumour is chemoembolization and this case offered an excellent opportunity to present this therapy.