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Fabry disease is a genetic disorder caused by mutations in the GLA gene, which encodes alpha–galactosidase A, leading to enzyme dysfunction and subsequent accumulation of glycosphingolipids. In the classical form, it occurs in childhood or early adolescence with renal, cardiac, and neurological involvement, resulting in a poor prognosis. The GLA D313Y is a missense mutation resulting in a significant reduction of enzyme activity in plasma, while leukocyte enzyme activity remains within normal limits, leading to a "pseudo–deficiency" of enzyme activity with uncertain pathogenicity. In literature, it has been observed that individuals with this mutation may present predominantly with central neurologic manifestations, characterized by multifocal white matter lesions. Historically they do not receive indications for initiating enzyme replacement or molecular chaperone therapies. We present the case of a man affected by arterial hypertension and history of chronic lower limb pain who experienced a lacunar stroke at the age of 35. The GLA D313Y mutation was identified and enzyme activity assay in plasma was within normal limits, precluding the initiation of enzyme replacement therapy. Over the following years, he suffered two additional ischemic strokes, a progressive decline in renal function to stage 3, and acute coronary syndrome. Transthoracic echocardiography revealed hypertrophic non–obstructive cardiomyopathy (SIVd 20 mm) with normal biventricular ejection fraction. Cardiac magnetic resonance showed late gadolinium enhancement of inferior junctional and inferior wall in middle segment (Fig.1). Considering the patient‘s clinical conditions involving multi–organ impairment, an enzymatic activity test was performed on leukocytes, revealing a reduced activity. This prompted the decision to initiate enzyme replacement therapy. This case report supports the hypothesis that the D313Y mutation may be associated with a later presentation and not only neurological involvement. In our experience, it’s mandatory to proceed with the determination of leukocyte enzyme activity in presence of normal enzyme activity in plasma. As an alternative, the detection of glycosphingolipids’ accumulation could be useful, but myocardial and renal biopsy poses a high bleeding risk, especially in anticoagulated or antiaggregated patients. The authors propose considering the initiation of therapy in patients with the D313Y mutation who exhibit significant organ involvement.

Transient global amnesia (TGA) is a clinical syndrome characterized by the sudden onset of anterograde amnesia, accompanied by repetitive questioning lasting up to 24 hours with whole restoration and without compromise of other neurologic function. Case reports suggest that cardiac dysfunctions may also occur in patients TGA although until now, no study has systematically assessed this phenomenon. Several pathophysiologic mechanisms have been proposed, with particular emphasis on the role of the central and autonomic nervous systems and an increased sympathetic hyperactivity, likewise to Takotsubo Syndrome (TTS). A case series of two cases (one man and one woman) of TGA as a precocious display of concomitant Takotsubo cardiomyopathy was described.

A 51–year–old male patient was admitted to the emergency room for stabbing chest pain associated with dyspnea on mild exertion. Past medical history: obesity, previous HCV infection, previous intravenous substance abuse. Physical examination: no audible cardiac murmurs or rubs, no wet lung sounds, mild edema of the face and upper limbs. ECG: sinus rhythm, no repolarization alterations. Lab tests: elevation of troponin I (93 ng/l) and CRP (2 mg/dl). Echocardiogram (poor visualization): non–dilated and normokinetic left ventricle (EF 0.55), no significant valvular disease, mild pericardial effusion. Coronary angiography: no obstructive coronary disease. A diagnosis of acute pericarditis was made, and anti–inflammatory therapy with ibuprofen and colchicine was started. Cardiac MRI showed a large right atrial mass, which infiltrates the interatrial septum and causes obstruction of the superior vena cava; the mass showed hypointensity on T1, clear hyperintensity on T2 and modest and non–homogeneous late gadolinium enhancement; mediastinal lymphadenopathy was also detected; overall, the exam raised the suspicion of malignant primary cardiac tumor (cardiac lymphoma versus angiosarcoma). The patient was referred to a tertiary center for endomyocardial biopsy, which showed the presence of large B–cell lymphoma, and the patient was started on chemotherapy. Discussion Cardiac masses are rare and usually benign. Malignant tumors are more frequently secondary, while primary ones are very rare. Lymphomas represent 1–2% of all cardiac tumors, are more frequent in male adults and are associated with immunodeficiency conditions. 70% are diffuse large B–cell lymphomas. Transthoracic echocardiogram is the main first–level test but has poor sensitivity, especially in cases with high acoustic impedance. Cardiac MRI is the main test for accurate anatomical definition and tissue characterization. In this specific case, the hyperintensity in the T2 sequences, the presence of inhomogeneous LGE and the mediastinal lymphadenopathy suggested the possible lymphoproliferative nature of the mass. Angiosarcoma appears more heterogeneous on T2 sequences and presents a ring of peripheral enhancement with central hypopointesity in post–contrast sequences. Endomyocardial biopsy allows for a definitive diagnosis, but is performed only when the benefits outweigh the risks. In this case, it proved to be essential for the histological characterization and the subsequent therapeutic approach.

COVID 19 disease caused devasting health consequences from March 2020. The development of effective vaccines against SARs COV 2 is an important weapon to defeat this virus. However rare cases of vaccines complications have been reported including myopericarditis above all in young males that we have to follow strictly and to begin right therapy as soon as possible. Data regarding specific therapy about mypericarditis after COVid 19 vaccine are scanty. We report a case of 16 years old male with no health problems, admitted in emergency department with chest pain relieved by sitting posistion and persistent fever rised 24 h after receiving his second dose of mRNA COVID 19 vaccineA 12 lead ECG showed normal sinusal rhythm without ST changes. On admission the complete blood cells count was normal, PCR was high: 5,92 mg/dl and troponin I at high sensivity was elevated: 9249 ml/L. The patient was hospitalized in our cardiology department with suspected myopericarditis. Ecocardiography TT showed normal left ventricular ejection fraction and no pericardial effusion. We began immediately non steroidal anti inflammatory therapy at high dose (ibuprofen 600 mg x 3/die and colchicine 1 mg/die) with conseguently reduction of chest painfuls symptoms. We also began ACEi therapy. On the advice of of the infectious disease specialist we added in the 5 th day methilprednisolone 25 mg/die in consideration of an excessive acute inflammatory response and we observed a clinical improvement with an indices of inflammation reduction. Cardiac magnetic resonance (CMR) performed after 3 day in T2 weighted images showed intramyocardial and subepicardial hyperintensity localized to the mid and apical lateral, basal infero lateral, distal anterior segment, as myocardial edema. Furthermore after Injection of contrast: subepicardial late gadolinium enhancement in the same segment. Minimum (4 mm) pericardial effusion. The clinical setting was attributable as symptoms, elevated troponin above upper limit of normal, in absence of other identifiable cause of symptoms and findings, to confirmed case of acute myocarditis after vaccine in according to the “CDC case definitions”. Myocarditis after mRNA COVID 19 vaccination affect above all young males with mild and multifocal forms with risks and benefits in favour of vaccines. However we need to identify them for an early therapy. In these setting of myocarditis an early use of corticosteroids can be provided.