Abstract A 26–year–old girl was admitted at hospital in December 2022 for a syncopal episode. She referred fatigue and dyspnea in the last 2 months. EKG was markedly abnormal showing peripheral low voltages, poor R wave progression in prechordial leads, negative T waves V4–V6, DII, DIII and aVF, fragmented QRS (Fig.1). Echo showed moderately dilated left ventricle (LV) with apical akinesia and apical aneurysm (no thrombi) and hypo–akinesia and hyperechoic appearance of the middle segments of the infero–posterior and lateral wall (Fig.2a). EF was 38%. There was no family history for sudden cardiac death and cardiomyopathy. Creatine kinase and neurological examination were normal. The diagnostic work–up included: myocardial scintigraphy which showed fixed tracer uptake deficit at apical and posterolateral levels (Fig.2b); cardiac magnetic resonance (CMR): apical aneurysm with extended late gadolinium enhancement (LGE) due to fibrosis, focally transmural, on the left ventricle’s midapical and infero–lateral thinned–hypokinetic myocardial walls (Fig.3a, 3b); Coronary angiography showed no stenosis. Due to myocardial aneurysm in absence of CAD, Chagas disease was excluded. We performed LV endomyocardial biopsy which showed cardiomyopathic changes and replacement fibrosis. Due to fibrosis extension, complex ventricular extrasystoles detected on monitoring and syncope, ICD was implanted. Finally genetic testing showed c.1621C>Tp.Arg541Cys LMNA pathogenetic mutation leading to the diagnosis of LMNA–related LV cardiomyopathy, with extensive fibrosis in multiple areas of left ventricle including the apical segments at a very young age. Patients with LMNA mutation-related heart disease are characterized by conduction abnormalities, ventricular tachyarrhythmias (VA) and high risk of sudden cardiac death with mildly impaired systolic function, often without chamber dilation. About 88% LMNA– cardiomyopathy have typical myocardial fibrosis, predominantly in the mid-myocardium of the basal septum. However, our patient and previous reported cases with the same p.R541 LMNA mutation presents with a specific phenotype including regional LV akinesis, segmental transmural LGE, significant LV dilatation and systolic dysfunction and VA without conduction abnormality. Of note, EKG shows normal A–V conduction but low voltage and negative T waves in precordial and inferior leads. These features are not typical for LMNA–disease and underline the phenotypic variability of cardiomyopathies.

Abstract Introduction Myocardial bridging (MB) is a congenital anomaly characterized by the intramyocardial course of one or more coronary arteries that provokes endothelial dysfunction and can generate myocardial ischemia with its pathological consequences. Because of the dynamic nature of the ischemic mechanism, a high–sensitivity myocardial perfusion stress test is often needed to decide on the correct management of the patient, mainly single photon emission computed tomography (SPECT). As an alternative to SPECT, our center offers the possibility of performing a dynamic stress–rest cCT–MPI (cardiac computed tomography – myocardial perfusion imaging). Hypothesis To compare the feasibility of performing cCT–MPI for the functional evaluation of MBs. Methods All cases underwent cCT (192–slice dual–source Somatom Force CT scanner, Siemens Healthcare, Germany), cCT–MPI with administration of a standard intravenous dose of 0.4 mg of regadenoson (Rapiscan®, GE Healthcare), and SPECT with physical stress (the latter not performed in one case of a minor patient, in favor of a coronary angiography with functional tests). Image processing was performed using Siemens Syngo® software, which can provide perfusion maps of myocardial blood flow (MBF) and volume (MBV) in a planar and 17 segments Bull‘s eye view. The interpretation of the results was performed toghether by an expert radiologist and cardiologist, both on a qualitative (color map) and quantitative basis (MBF ratio). Results From May 2022 to September 2023, 15 cases of MB with otherwise intact coronary arteries were collected, all involving the LAD and with anatomical characteristics considered "dangerous", i.e. length >2.5 cm and depth >2 mm. The investigations carried out revealed two relevant results: the first is that, despite all the selected MBs had anatomical features of complexity, a reversible perfusion defect related to MB was detected in only 2 cases (13%), one of which was confirmed by SPECT investigation and the other by functional tests during coronary angiography; the second is the high positive and negative concordance between cCT–MPI with pharmacological stress and SPECT with physical stress. Conclusion Myocardial bridging is an increasing finding detected through cCT investigations, but in a minority of cases it carries hemodynamic consequences. cCT followed in the same session by cCT–MPI with regadenoson administration constitutes two stages of the same exam.

Abstract A 78–year–old man with a recent diagnosis of lung squamous cell carcinoma was referred to our cardiology department for marked ECG abnormalities (ST segment elevation in V2–V4 and T waves inversion in the antero–lateral leads, Fig.1) in the absence of ischemic symptoms and for the detection of an intramyocardial mass at the apical segments on the CT scan. He had no significant previous cardiovascular history. A transthoracic echocardiogram (TTE) was performed and showed an isoechoic mass at the LV apical segments measuring 3 x 4 cm apparently incorporating the myocardial wall without a clear cleavage plane (Fig.2a). The EF was normal. No pericardial effusion present. The contrast echocardiography with Sonovue revealed a late uptake of the contrast (Fig.2b). Cardiac magnetic resonance (CMR) showed an ovular image in the para–apical area of 40 x 23 cm consistent with a secondary lesion (Fig.3). Unfortunately, the exam was interrupted early due to a patient’s claustrophobic crisis, without having acquired the post–contrast images. Due to infiltrative appearance of the mass and the oncology history, this formation was highly suspicious for metastasis. No complicated ventricular arrhythmias were detected on ECG monitoring. No symptoms of heart failure were reported. Due to the marked EKG repolarization abnormalities the patient underwent coronary angiography which excluded significant stenosis. FDG PET/CT showed areas of increased metabolism also at liver and adrenal left gland. Finally, the patient was transferred to the oncology department for specific management. Cardiac metastases are more common than primary cardiac malignancy and are more frequently related to primary lung cancer, followed by breast cancer and hematologic malignancies. Typical presentation includes arrhythmias or conduction disturbances. The imaging findings of cardiac metastases are non–specific but mostly infiltrative, heterogeneous, and multiple masses may be present. Echocardiography is the initial imaging test for the detection of cardiac metastasis, although CMR, CT and PET/CT may be helpful. Herein we described a case of cardiac metastasis with EKG mimicking acute coronary syndrome. This finding is not uncommon among these patients. EKG findings of myocardial ischemia or injury, particularly localized and prolonged ST elevation, in the absence of ischemic symptoms have been reported in previous studies as high specificity for cardiac metastasis in patients with malignancy.

Abstract A 70–year–old man was admitted to our emergency department (ED) for chest pain during the previous 3 days variable with breathing and chest movements. Clinical history included chronic coronary syndrome (2018: transient ST–segment elevation treated with PTCA + DES on proximal LAD), chronic kidney disease (CKD), chronic myeloid leukemia, chronic hepatitis B and C. At the ED an ECG showed atrial fibrillation (AF) with medium ventricular response (100 bpm). Transthoracic echocardiogram (TTE, Fig.1a, 1b, 1d) and transesophageal echocardiogram (TEE, Fig.1c) revealed a voluminous roundish iso–ipoechoic mass (“red star”) with regular and hyperechoic margin, apparently intrapericardial and close to the lateral wall of the left atrium, measuring 8 x 5.5 x 2 cm, without infiltrating the wall and without obstructing pulmonary veins return. Minimal pericardial effusion was present. On contrast TTE (Sonovue) there was no uptake of contrast agent (Fig.2a). The MRI (Fig.2b) showed a heterogeneous formation with slight late contrast enhancement consistent with intrapericardial hematoma. We submitted the case to cardiac surgeons who recommended close echocardiographic follow–up, given the absent hemodynamic impact of the mass. Management of pericardial hematoma in this clinical setting is controversial, it has limited available evidence, and thus there is significant variability in clinical practice. Due to AF, anticoagulant therapy with warfarin (imbricating with heparin) was initiated; anti–inflammatory treatment with ibuprofen and colchicine was prescribed. The patient was discharged in good general conditions. One month later we scheduled a follow–up visit with echo: a clear volumetric reduction of the intrapericardial hematoma was documented (Fig.3) and the patient reported a complete disappearance of the symptoms. We chose this case to highlight the importance of using all cardiac imaging techniques in the differential diagnosis of cardiac/pericardial masses; among others, MRI certainly represents the gold standard in this field but also Sonovue contrast echocardiography is definitely useful. Furthermore, a multidisciplinary approach involving clinical cardiologists, radiologists and cardiac surgeons is essential.

Abstract We present the case of a 58–year–old man with a familiar history (mother affected) positive for ATTR–v (Ile88Leu) amyloidosis. The mother initially had a pure cardiac phenotype and was firstly treated with tafamidis, but progression of the disease to the nervous system warranted a switch to patisiran. Our patient carried the Ile88Leu mutation and had a medical history notable for surgically treated left carpal tunnel syndrome (CTS) and untreated right CTS. Furthermore, he was affected by systemic arterial hypertension and was a habitual smoker. He has been followed at our Institution since 2018. His first echocardiogram showed normal left ventricular ejection fraction (LVEF 65%), mild hypertrophy (anterior septum: 12 mm), and borderline values of GLS (– 16%) without any specific pattern. Further exams were executed: Bone scintigraphy (BS): negative (Perugini score 0); Coronary artery ct scan: moderate stenosis of proximal LAD; Neurologic evaluation: no signs of peripheral neuropathy. The clinical picture remained unaltered in 2020 and 2021. However, during November 2022 the patient developed atrial fibrillation (AF) and presented to the ED for dyspnea and palpitations. Electrical cardioversion was performed with success but subsequent recurrences warranted AF ablation in April 2023. At that moment, the patient was re–evaluated. Basal ECG did not show any significant alteration (FIg.1)This time, echocardiogram showed mild worsening of hypertrophy (13 mm septum), GLS – 16% with apical sparing pattern, no other major variations (Fig.2). BS was repeated and revealed grade 1 Perugini score (Fig.3). Hence, a series of clinical question arose: Should we begin a specific treatment or is the disease in an excessively early stage that does not warrant treatment? Is AF linked to concomitant arterial hypertension or might it be an early marker of disease? We questioned the usefulness of endomyocardial biopsy in this specific setting. In this case, we repeated electromyography that showed mild axonal sensitive–motor polyneuropathy. Finally, we concluded for initial signs of systemic amyloidosis ATTR–v (Ile88Leu) type with mixed phenotype (neurological+cardiac). The neurological involvement allowed us to start a gene–silencer (Patisiran). In conclusion, a periodic neurological evaluation is necessary and has crucial therapeutic implications in all genotypes. Indeed, there is increasing evidence that Ile88Leu is a not only cardiogenic mutation.

A 70 years–old man with a history of systemic hypertension and surgically treated bilateral carpal tunnel was referred for dyspnea on exertion for few months. At physical examination a systolic heart murmur exacerbated by Valsalva maneuver was appreciated; no signs of heart failure. EKG with low–voltage QRS is shown in Fig.1A. Blood tests showed elevated NT–proBNP (1434 pg/ml). Transthoracic echo (ETT) revealed hyperdynamic left ventricle (LV) with severe asymmetric hypertrophy (interventricular septum 23 mm, posterior wall 17 mm), ‘granular sparkling’ appearance of myocardium, grade 2 diastolic dysfunction and ‘apical sparing’ pattern at global longitudinal strain (GLS, Fig.1B). Moreover, elongated mitral leaflets, anomalies of mitral sub–valvular apparatus with apically displaced papillary muscles and systolic anterior motion of the mitral valve (SAM) with dynamic outflow tract obstruction (20 mmHg at rest and 90–100 mmHg with Valsalva maneuver) were seen (Fig. 2A–B–C). For ETT suspicion of a coronary artery anomaly (Fig.3A), the patient underwent coronary CT angiography that confirmed a separate origin of left anterior descending artery (LAD) from right coronary sinus with a long mid–proximal intramyocardial bridge (Fig.3B–C). As a part of evaluation of the hypertrophic phenotype, a 99mTC–HDP bone scintigraphy was performed with high–grade of cardiac uptake (Perugini Score 2, Fig.1C). Screening for monoclonal gammopathy and genetic testing for hereditary amyloidosis resulted negative. Cardiac MRI revealed late gadolinium enhancement (LGE) in midwall septum, diffuse endocardial LGE in the LV basal inferior and posterolateral walls (Fig.1D), elevated T1 mapping and ECV (40–42%) and confirmed the asymmetric hypertrophy with apically displaced papillary muscles (Fig.2D) and SAM. These clinical, EKG and imaging features led to a non–invasive diagnosis of wild–type transthyretin cardiac amyloidosis (ATTRwt) with aspects of hypertrophic obstructive cardiomyopathy (HOCM). The patient started a disease–modifying therapy with Tafamidis and, cautiously, Metoprolol tartrate, with good tolerance and relevant reduction of LVOT obstruction at follow–up. Genetic testing for HCM was also performed. In conclusion, in rare cases hypertrophic phenotype may be challenging, showing features overlap between ATTR and HOCM. Multimodality evaluation is crucial for a correct diagnosis, thus identifying the most effective target–therapy for the underlying hypertrophic phenotype.

Background [18F]-FDG PET/CT in a useful tool to assist diagnosis and therapy of large vessel vasculitis (LVV). Visual grading methods are commonly used in clinical practice, but these may lead to interpretation mistakes because of the confounding factors due to atherosclerosis and basal setting of the exam, reducing diagnostic accuracy for detecting active disease. Therefore, a semi-quantitative analysis based on normalization of the arterial wall uptake to the background activity or grading the arterial inflammation against a reference background, were introduced in the context of clinical studies in the last years. Objectives To review a series of [18F]-FDG PET/CT of LVV by applying a semi-quantitative analysis that included the standardized uptake value (SUV) and a target-to-background ratio (TBR) to evaluate possible correlations between FDG uptake, considering also a TBR cut-off, haematological inflammatory markers and the CT angiography (CTA) findings. Methods We reviewed our internal database for [18F]-FDG PET/CT among patients with LVV (GCA, Takayasu). Were selected [18F]-FDG PET/CT with available blood inflammatory markers and a CTA performed during the same period (permitted a range of 7 days for blood tests or 30 days for CTA), patients were all out of therapy or on stable therapy. As controls were taken ten patients undergoing PET/CT for oncologic diagnostics. The SUV maximum (SUV max) was considered that in the aortic arch or in the vascular region with higher levels of SUV. Target-to-background ratio was calculated considering average SUV in the right hepatic lobe (SUV max/SUV liver ratio). Non parametric test for correlation analysis were performed between SUV max, SUV max/SUV liver ratio and CRP (mg/dl). According previous data a cut-off of SUV max/SUV liver ratio >1.2 was considered and was then compared with CRP, for disease activity, and with CTA, to find agreement with vessel wall thickness and contrast enhancement. Results 33 [18F]-FDG PET/CT from 21 patients, 4 Takayasu and 17 GCA, 9M/12F, mean age 61,2 years were available for analysis, 13 out of them had at least one CTA to compare (total 21 CTA). SUV max and SUV max/SUV liver ratio in LVV resulted statistically higher than controls (Mann-Whitney test respectively U= 21, p = 0.00001 and U=76, p=0.027). Linear correlation between SUV max and CRP resulted highly significant (Spearman: r= 0,51 p = 0,006) but also correlation for SUX max/SUV liver ratio resulted significant (Spearman: r = 0,47, p = 0,011). Applying a cut-off for SUV max/SUV liver >1,2 we found a statistically significant agreement with CRP (Mann-Whitney U=43 p =0.0015). Less correlation was found when [18F]-FDG PET/CT SUV was compared with contrast enhancement and vessel wall thickening of CTAs, probably, because of the increased vessel thickness remains even in the inactive disease stages. Conclusion Although further studies are expected, semi-quantitative [18F]-FDG PET/CT scoring methods and simple cut off scores based on TBR analysis seems to correlate with disease activity and they could be used in the clinical practice, together with inflammation indices and other radiological imaging techniques, to offer a reliable and repeatable tool to help clinicians in managing LVV. References [1]FDG-PET/CT(A) imaging in large vessel vasculitis and polymyalgia rheumatica: joint procedural recommendation of the EANM, SNMMI, and the PET Interest Group (PIG), and endorsed by the ASNC. Slart RHJA; Writing group; Reviewer group; Members of EANM Cardiovascular; Members of EANM Infection & Inflammation; Members of Committees, SNMMI Cardiovascular; Members of Council, PET Interest Group; Members of ASNC; EANM Committee Coordinator. Eur J Nucl Med Mol Imaging. 2018;45(7):1250-126 [2]Diagnostic value of [18F]FDG-PET/CT for treatment monitoring in large vessel vasculitis: a systematic review and meta-analysis. van der Geest KSM, Treglia G, Glaudemans AWJM, Brouwer E, Sandovici M, Jamar F, Gheysens O, Slart RHJA. Eur J Nucl Med Mol Imaging. 2021;48(12):3886-3902. Acknowledgements: NIL. Disclosure of Interests None Declared.

Abstract This case refers to a 69–year–old woman with a history of hypertrophic cardiomyopathy (HCM) with severe mid–ventricular obstruction complicated by apical aneurysm and restrictive phenotype. This patient had no left ventricular outflow tract obstruction and previous examinations showed moderate mitral regurgitation (MR) with suboptimal echocardiographic follow–up. ICD was previously implanted for primary prevention. Disease progression was complicated by episodes of acute heart failure (HF) caused by atrial fibrillation/tachycardia (AF or AT) with rapid ventricular response despite pharmacological therapy and a transcatheter ablation attempt. The patient was admitted to our Cardiac Intensive Care Unit with acute pulmonary oedema and extreme general frailty. EKG showed normal sinus rhythm alternating with AT with high ventricular rate. Transthoracic (TTE) and transesophageal (TEE) echocardiograms gave evidence of severe hypertrophy of left ventricular (LV) mid–cavity segments (mid IVS = 26 mm) with mid–ventricular systolic obliteration (with no more evidence of significant gradient) and a large apical aneurysm (37x35 mm) resulting in an “hourglass” shaped LV cavity (Figure 1). In addition the examinations highlighted systolic dysfunction with severe stroke volume reduction and severe MR caused by annulus dilatation with anterior jet direction due to leaflets abnormal coaptation (Figure 2). HF was multifactorial, caused not only by MR and atrial tachyarrhythmias but also due to the abnormal large apical aneurysm and the small left ventricular chamber with low compliance. The anatomical features obtained from TEE and cardiac CT (Figure 3) were analyzed by the Heart Team. Surgery with aneurysmectomy and mitral valve repair or replacement was excluded due to patient‘s frailty. Despite the suboptimal valve and LV chamber anatomy, percutaneous mitral valve repair with MitraClip was considered but also deferred owing to the unstable hemodynamic conditions. Further hemodynamic deterioration led to the patient’s exitus. Discussion HCM with mid–ventricular obstruction may be complicated by apical aneurysm. Large apical aneurysms can reduce LV contractile efficiency and the combination with severe MR can cause further loss of anterograde cardiac output leading to a progressive and fatal deterioration. A better outcome can only be achieved through careful follow–up and early detection and management of disease complications.

Myocardial bridging (MB) is a congenital anomaly characterized by the intramyocardial coronary course that can cause coronary compression during systole leading to myocardial ischemia, often with the concomitant presence of endothelial dysfunction.Improvements in computed tomography (CT) technology have increased the burden of MB detection during coronary-CT (cCT) but their anatomical and functional assessment is often challenging. A stress-rest myocardial perfusion imaging (MPI) by single-photon emission CT (SPECT) is usually required to decide the correct patient management. However, SPECT has long acquisition protocols, poor spatial resolution, and significant radiation doses for the patient. The recent advances in CT scan technology have allowed the evaluation of stress-rest MPI, representing a promising alternative to SPECT.In this paper, we report six cases of MBs assessed with cCT examination and further evaluated with a stress-rest dynamic-CT MPI and SPECT. A reversible perfusion defect in the left anterior descending (LAD) territory segments potentially due to MB was detected in two of six patients, and they were referred for heart team evaluation.In conclusion, cCT and stress-rest dynamic-CT MPI allowed to detect MBs, evaluate their functional significance, and decide the patients' management in a "one-stop shop" examination. Learning objective:Improvements in computed tomography (CT) technology have increased the burden of myocardial bridging (MB) detection during coronary-CT but their anatomical and functional assessment is often challenging.A stress-rest myocardial perfusion imaging (MPI) by single-photon emission CT (SPECT) is then usually required to decide the correct patient management.Recent advances in CT scan technology have allowed the evaluation of stress-rest MPI, that represent a promising alternative to SPECT.