Introduction Anderson-Fabry disease (FD) is a rare X-linked hereditary disease caused by mutations in the alpha-galactosidase A (GLA) gene, a lysosomal hydrolase that catabolizes lipids. GLA deficency leads to a progressive accumulation of undegraded glycosphingolipids, mainly Globotriaosylceramide (GB3), within lysosomes of cells (epithelial and endothelial cells, neurons, cardiomyocytes and renal cells), leading to cellular dysfunction. The incidence of FD is 1:117.000 but in patients with end stage renal disease (ESRD), incidence is higher, ranging from 0.04% up to 1.16% in male dialysis patients. Classical form of the disease shows renal, cardiac and cerebrovascular involvements usually. Cardiac involvement includes hypertrophic cardiomyopathy, arrhythmias such as complete heart block, valve dysfunction and myocardial infarction. Renal manifestations include proteinuria, progressive loss of renal function with chronic kidney disease (CKD) that leads to ESRD. The diagnosis of FD can be very difficult and often is delayed due to subtle clinical manifestations, but an early diagnosis is crucial to start enzyme replacement therapy (ERT), based on recombinant human GLA, as soon as possible. Clinical Case we describe the case of a 36-years-old male admitted to the Emergency Room of our hospital due to asthenia, nausea, dysphagia, anuria and loss of weight. At physical examination, apical systolic murmur and a bilateral ankle edema. Blood pressure was 195/100 mmHg, heart rate 125 beats per minute, peripheral oxygen saturation 100%. Blood test showed Hemoglobin 8 g/dL, Blood Urea 422 mg/dL, Creatinine 20 mg/dL, Na+ 135 mEq/L, K+ 4 mEq/L, Phosphorus 9 mg/dL. Arterial blood gas analysis showed metabolic and lactic acidosis. The diagnosis of acute kidney injury (AKI) was made, and a dialytic treatment was scheduled. During dialytic session, the patient had a syncope. EKG showed a complete left bundle branch block (LBBB) with advanced atrio-ventricular block (2:1, complete). An echocardiogram highlighted a severe myocardial hypertrophy (septal wall 25 mm) involving also the right ventricle with “ground glass” aspect of the posterolateral, posterior and inferior septum, with minimal pericardial effusion. Heart MRI scan confirmed LV myocardial hypertrophy with circumferential aspect (interventricular septum 26.6 mm), mild decrease in left ventricular ejection fraction (47%) and myocardial hypointensity area in the FSE sequences. Renal ultrasound showed bilateral cortical hyperecogenity, small cortico-medullary border, initial reduction of kidney volume and diffuse perirenal edema. In consideration of the high probability of a storage disease, we performed genetic testing for FD and Gaucher disease, peri-umbilical fat biopsy for Amyloid Disease and a renal biopsy. The genetic test resulted positive for typical mutation of FD and renal biopsy documented ESRD secondary to glycosphingolipid storage disease ceramid type from FD. Conclusion Differential diagnosis of AKI in a young male should include FD, as suggested by the clinical case reported, and nephrologist should screen young patients for α-GLA enzyme deficiency (diagnostic for FD) possibly coupled with renal biopsy in uncertain cases.

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Introduction: in medical literature, studies on cardiac metastases are few and discordant and their actual incidence is underestimated. Autoptic examination shows evidence of cardiac metastases in about 9% of all the patients affected by malignant tumor. Each malignant tumor can metastasize to the heart (incidence varying from 2.3% to 18.3%); nevertheless, formation of cardiac metastases is more frequently associated with primitive neoplasms such as pleural mesothelioma (48.4%), melanoma (27.8%), adenocarcinoma as well as lung and kidney carcinomas. Clinical case: patient aged 66, former smoker, no further cardiovascular disease risk factors, no occurrences of heart disease in his past medical history. In 2008 surgical excision of melanoma skin cancer, negative sentinel lymph node. In 2014 cancer relapse, final cycle of chemotherapy treatment completed in July. In October 2014 evidence of liver and adrenal gland metastases. In November 2014 evidence of bone metastases. As the CT scan showed evidence of pleural and pericardial effusion, the patient was requested to undergo cardiac examination and an echocardiogram test in preparation for further chemotherapy treatment. During the medical examination the patient presented with symptoms of marked asthenia, dyspnea under moderate effort (NYHA II), palpitations. BP: 100/60 mmHg. ECG: low voltages, sinus tachycardia, incomplete RBBB, inverted T waves in V1 – V4, III. Home Therapy: Furosemide 25 mg, Cortisone 25 mg, Tramadolo Cloridrato 50 mg, Albumina. The findings of the echocardiogram test showed: enlarged and hyperkinetic left ventricle, abundant circumferential pericardial effusion measuring up to 2,3 cm. Evidence of hyperechogenic areas in the epicardium, myocardium and at the level of mitral valve flaps (figure 1 and 2). In December 2014 hospital admission due to worsening of clinical symptoms, onset of ascites, hyperpotassemia, anemization (Hb 8.6g/dL). During the 72 hours following hospitalisation: STEMI, acute kidney failure, respiratory failure, metabolic acidosis, death. The autoptic examination showed evidence of undifferentiated large cell neoplasm with formation of metastases in the myocardium, mitral valve apparatus and coronary tree. Conclusions echocardiography should always be included in the clinical examinations which patients affected by neoplasm are required to undergo. Serial evaluations allow to identify the occurrence of pericardial effusion and/or heart involvement even in the absence of clinical suspicion. Identifying such anomalies may have important therapeutic implications.