Role of Cardiovascular Magnetic Resonance in Cardiac Amyloidosis: A Narrative Review.

Amyloidosis is a rare infiltrative condition resulting from the extracellular accumulation of amyloid fibrils at the cardiac level. It can be an acquired condition or due to genetic mutations. With the progression of imaging technologies, a non-invasive diagnosis was proposed. In this study, we discuss the role of CMR in cardiac amyloidosis, focusing on the two most common subtypes (AL and ATTR), waiting for evidence-based guidelines to be published.

Fat Matters: Exploring Cancer Risk through the Lens of Computed Tomography and Visceral Adiposity.

Obesity is an established risk factor for cancer. However, conventional measures like body mass index lack precision in assessing specific tissue quantities, particularly of the two primary abdominal fat compartments, visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT). Computed tomography (CT) stands as the gold standard for precisely quantifying diverse tissue types. VAT, distinguished by heightened hormonal and metabolic activity, plays a pivotal role in obesity-related tumor development. Excessive VAT is linked to aberrant secretion of adipokines, proinflammatory cytokines, and growth factors, fostering the carcinogenesis of obesity-related tumors. Accurate quantification of abdominal fat compartments is crucial for understanding VAT as an oncological risk factor. The purpose of the present research is to elucidate the role of CT, performed for staging purposes, in assessing VAT (quantity and distribution) as a critical factor in the oncogenesis of obesity-related tumors. In the field of precision medicine, this work takes on considerable importance, as quantifying VAT in oncological patients becomes fundamental in understanding the influence of VAT on cancer development-the potential "phenotypic expression" of excessive VAT accumulation. Previous studies analyzed in this research showed that VAT is a risk factor for clear cell renal cell carcinoma, non-clear cell renal cell carcinoma, prostate cancer, and hepatocarcinoma recurrence. Further studies will need to quantify VAT in other oncological diseases with specific mutations or gene expressions, in order to investigate the relationship of VAT with tumor genomics.

CT-Based Radiogenomics of P4HA3 Expression in Clear Cell Renal Cell Carcinoma.

RATIONALE AND OBJECTIVES: The sequencing of the renal cell carcinoma (RCC) genome identified several mutations with prognostic significance. Genomic analysis, collected in The Cancer Genome Atlas Research Network, revealed several clear cell renal cell carcinoma (ccRCC) gene mutations and gene expressions. Radiogenomics is a new branch of diagnostic imaging based on the association between imaging phenotypes and genomics of diseases. P4HA3 expression has recently been shown to correlate with increased aggressiveness of ccRCC, with poor prognosis, proliferation, migration, invasion, and metastases, suggesting P4HA3 as a prognostic marker and therapeutic target in ccRCC. The aim of this study is to investigate the computed tomography (CT) imaging phenotype of P4HA3 expression in ccRCC patients. MATERIALS AND METHODS: In this retrospective study we enrolled 196 ccRCC patients divided into two groups: ccRCC patients with P4HA3 expression (n = 13) and ccRCC patients without P4HA3 expression (n = 183). Several imaging features were evaluated on preoperative CT scan. The statistical significance threshold was set at P < .05. RESULTS: A statistically significant association was found with larger primary tumor size (P = .033), tumor infiltration (P = .023), ill-defined tumor margins (P = .025), and advanced tumor stage American Joint Committee of Cancer (P = .014). CONCLUSION: This study demonstrates CT imaging features associated with P4HA3 expression in ccRCC. These results could contribute to better understand P4HA3 expression with a noninvasive approach and could be applied to the development of targeted therapies.

Radiogenomic Features of GIMAP Family Genes in Clear Cell Renal Cell Carcinoma: An Observational Study on CT Images.

GTPases of immunity-associated proteins (GIMAP) genes include seven functional genes and a pseudogene. Most of the GIMAPs have a role in the maintenance and development of lymphocytes. GIMAPs could inhibit the development of tumors by increasing the amount and antitumor activity of infiltrating immunocytes. Knowledge of key factors that affect the tumor immune microenvironment for predicting the efficacy of immunotherapy and establishing new targets in ccRCC is of great importance. A computed tomography (CT)-based radiogenomic approach was used to detect the imaging phenotypic features of GIMAP family gene expression in ccRCC. In this retrospective study we enrolled 193 ccRCC patients divided into two groups: ccRCC patients with GIMAP expression (n = 52) and ccRCC patients without GIMAP expression (n = 141). Several imaging features were evaluated on preoperative CT scan. A statistically significant correlation was found with absence of endophytic growth pattern (p = 0.049), tumor infiltration (p = 0.005), advanced age (p = 0.018), and high Fuhrman grade (p = 0.024). This study demonstrates CT imaging features of GIMAP expression in ccRCC. These results could allow the collection of data on GIMAP expression through a CT-approach and could be used for the development of a targeted therapy.

Quantitative ADC: An Additional Tool in the Evaluation of Prostate Cancer?

Prostate cancer is one of the most common tumors among the male population. Magnetic resonance imaging (MRI), standardized by the PI-RADS version 2.1 scoring system, has a fundamental role in detecting prostate cancer and evaluating its aggressiveness. Diffusion-weighted imaging sequences and apparent diffusion coefficient values, in particular, are considered fundamental for the detection and characterization of lesions. In 2016 the International Society of Urological Pathology introduced a new anatomopathological 5-grade scoring system for prostate cancer. The aim of this study is to evaluate the correlation between quantitative apparent diffusion coefficient values (ADC) derived from diffusion-weighted imaging (DWI) sequences and the International Society of Urological Pathology (ISUP) and PI-RADS groups. Our retrospective study included 143 patients with 154 suspicious lesions, observed on prostate magnetic resonance imaging and compared with the histological results of the biopsy. We observed that ADC values can aid in discriminating between not clinically significant (ISUP 1) and clinically significant (ISUP 2-5) prostate cancers. In fact, ADC values were lower in ISUP 5 lesions than in negative lesions. We also found a correlation between ADC values and PI-RADS groups; we noted lower ADC values in the PI-RADS 5 and PI-RADS 4 groups than in the PI-RADS 3 group. In conclusion, quantitative apparent diffusion coefficient values can be useful to assess the aggressiveness of prostate cancer.

Applications of new radiological scores: the Node-rads in colon cancer staging.

PURPOSE: The study focuses on the evaluation of the new Node Reporting and Data System 1.0 (Node-rads) scoring accuracy in the assessment of metastatic lymph nodes (LN) in patients with colon carcinoma. MATERIAL AND METHODS: From April 2021 to May 2022, retrospective chart reviews were performed on 67 preoperative CT (Computed Tomography) of patients undergoing excisional surgery for colon cancer at the Polyclinic of Bari, Italy. Primary endpoints were to assess lymph node size and configuration to express the likelihood of a metastatic site adopting the Node-rads score system, whose categories of risk are defined from 1 (very low) to 5 (very high). The nodal postsurgical histological evaluation was the gold standard. The relationship between Node-rads score, LN size, configuration criteria (texture, border and shape) and the presence of histological metastases was statistically evaluated. RESULTS: All surgical specimens examined had correlation with Node-rads score. They were significantly more likely to present nodes micrometastasis those patients with (a) spherical LN shape (82.8%), (b) with lymph node necrosis (100%), (c) irregular borders (87%) and (d) the LN short axis more than 10 mm (61.9%). CONCLUSIONS: Our experience highlights how the Node-rads system proposes an intuitive and effective definition of criteria to standardize the lymph node radiological reports in colon cancer disease. Further studies are needed to streamline the classification of the nodal and peripheral LN in all the oncological imaging.

Hepatocellular Carcinoma with Bile Duct Tumor Thrombus: A Case Report and Literature Review of 890 Patients Affected by Uncommon Primary Liver Tumor Presentation.

Bile duct tumor thrombus (BDTT) is an uncommon finding in hepatocellular carcinoma (HCC), potentially mimicking cholangiocarcinoma (CCA). Recent studies have suggested that HCC with BDTT could represent a prognostic factor. We report the case of a 47-year-old male patient admitted to the University Hospital of Bari with abdominal pain. Blood tests revealed the presence of an untreated hepatitis B virus infection (HBV), with normal liver function and without jaundice. Abdominal ultrasonography revealed a cirrhotic liver with a segmental dilatation of the third bile duct segment, confirmed by a CT scan and liver MRI, which also identified a heterologous mass. No other focal hepatic lesions were identified. A percutaneous ultrasound-guided needle biopsy was then performed, detecting a moderately differentiated HCC. Finally, the patient underwent a third hepatic segmentectomy, and the histopathological analysis confirmed the endobiliary localization of HCC. Subsequently, the patient experienced a nodular recurrence in the fourth hepatic segment, which was treated with ultrasound-guided percutaneous radiofrequency ablation (RFA). This case shows that HCC with BDTT can mimic different types of tumors. It also indicates the value of an early multidisciplinary patient assessment to obtain an accurate diagnosis of HCC with BDTT, which may have prognostic value that has not been recognized until now.

Post severe COVID-19 infection lung damages study. The experience of early three months multidisciplinary follow-up.

The correct type and time of follow-up for patients affected by COVID19 ARDS is still unclear. The aim of this study was to evaluate at the survivors to COVID19 ARDS requiring non-invasive respiratory support (NRS) admitted to a Respiratory Intensive care unit (RICU) from March 8th till May 31th 2020 looking at all sequelae via a comprehensive follow up. All patients underwent a multi-disciplinary instrumental and clinical assessment within three months form admission to evaluate all infection related sequelae. Thirty-eight patients were enrolled Lung-Ultrasound (LUS) showed an outstanding discrimination ability (ROC AUC: 0.95) and a substantial agreement rate (Cohen's K: 0.74) compared to chest CT-scan detecting improvement of lung consolidations. Youden's test showed a cut-off pressure of 11 cmH2O ExpiratoryPAP-Continuous-PAP-max (EPAP-CPAP) applied at the airways during hospitalization to be significantly correlated (p value: 0.026) to the increased pulmonary artery common trunk diameter. A total of 8/38 patients (21.8%), 2 of whom during follow-up, were diagnosed with Pulmonary Emboli (PE) and started anticoagulant treatment. Patients with PE had a statistically significant shorter length of time of hospitalization, time to negative swab, CPAP/NIV duration, P/F ratio and D-dimers at follow-up compared to non PE. A comprehensive approach to patients with ARDS COVID19 requiring NRS is necessary. This study highlighted cardiopulmonary impairment related to the ARDS and to the high-EPAP-CPAP-max greater than 11mmHg provided during admission, the usefulness of LUS in monitoring post-infection recovery and the correct identification and  treatment of patients with PE during follow up.

Ultrasound evaluation of ductal carcinoma in situ of the breast.

PURPOSE: To assess the role of ultrasound (US) in detecting and characterizing ductal carcinoma in situ (DCIS) of the breast and to investigate the correlation between ultrasonographic and biological features of DCIS. METHODS: In total, 171 patients (mean age 44; range 39-62) with 178 lesions were retrospectively evaluated by two independent radiologists searching for US mass or non-mass lesions. Immunohistochemistry analysis was performed to determine estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2) expression. The US detection rate and pattern distribution among the lesion types were evaluated. The χ2 test was used to evaluate the correlation between the US findings and the biological factors. Statistical significance was indicated by p values < 0.05. Inter-observer agreement was calculated by Kohen's k test. RESULTS: US detected 35% (63/178) of all lesions. Fifty-two (83%) lesions were classified as mass lesions, and 11 (17%) as non-mass lesions (p < 0.0001). Among the mass lesions, the most common shape was irregular (79%; p < 0.0001), with 45 (87%) lesions having indistinct margins. Hypoechogenicity was the most common echo pattern (49 cases, 94%; p < 0.0001). Microcalcifications were found in 23 cases (37%; p = 0.004) and were associated with mass lesions in 15 cases (65%) and with non-mass lesions in 8 cases (35%) (p = 0.21). An almost perfect inter-observer agreement (k = 0.87) was obtained between the two radiologists. A significant ER expression was found in mass lesions (83%; p < 0.0001), with no significant PR (p = 0.89) or HER2 expression (p = 0.81). Among the lesions with microcalcifications, only 7 out of 23 cases (30%) were positive for HER2 (p = 0.09). CONCLUSION: DCIS represents a heterogeneous pathological process with variable US appearance (mass-like, non-mass-like, or occult). The most common US finding is represented by mass-type, hypoechogenic lesions with indistinct margins. A significant ER expression exists among mass-type lesions, while microcalcifications seem not to be associated with HER2 expression.

Radiomics to predict the mortality of patients with rheumatoid arthritis-associated interstitial lung disease: A proof-of-concept study.

Objectives: Patients with rheumatoid arthritis (RA) and interstitial lung disease (ILD) have increased mortality compared to the general population and factors capable of predicting RA-ILD long-term clinical outcomes are lacking. In oncology, radiomics allows the quantification of tumour phenotype by analysing the characteristics of medical images. Using specific software, it is possible to segment organs on high-resolution computed tomography (HRCT) images and extract many features that may uncover disease characteristics that are not detected by the naked eye. We aimed to investigate whether features from whole lung radiomic analysis of HRCT may alone predict mortality in RA-ILD patients. Methods: High-resolution computed tomographies of RA patients from January 2012 to March 2022 were analyzed. The time between the first available HRCT and the last follow-up visit or ILD-related death was recorded. We performed a volumetric analysis in 3D Slicer, automatically segmenting the whole lungs and trachea via the Lung CT Analyzer. A LASSO-Cox model was carried out by considering ILD-related death as the outcome variable and extracting radiomic features as exposure variables. Results: We retrieved the HRCTs of 30 RA-ILD patients. The median survival time (interquartile range) was 48 months (36-120 months). Thirteen out of 30 (43.33%) patients died during the observation period. Whole line segmentation was fast and reliable. The model included either the median grey level intensity within the whole lung segmentation [high-resolution (HR) 9.35, 95% CI 1.56-55.86] as a positive predictor of death and the 10th percentile of the number of included voxels (HR 0.20, 95% CI 0.05-0.84), the voxel-based pre-processing information (HR 0.23, 95% CI 0.06-0.82) and the flatness (HR 0.42, 95% CI 0.18-0.98), negatively correlating to mortality. The correlation of grey level values to their respective voxels (HR 1.52 95% CI 0.82-2.83) was also retained as a confounder. Conclusion: Radiomic analysis may predict RA-ILD patients' mortality and may promote HRCT as a digital biomarker regardless of the clinical characteristics of the disease.

Streak artefacts in Computed Tomography Urography: Comparative evaluation between two different iodinated contrast media.

INTRODUCTION: The objective of this study was to compare the frequency and entity, in computed tomography (CT) urography, of streak artefacts on the urinary tract generated by two contrast agents with a different iodine concentration and osmolarity. METHODS: Computed tomography scans including an excretory renal phase, performed on adult subjects in the period May-July 2020, were retrospectively evaluated in consensus by three expert radiologists, to detect any streak artefacts located in the urinary tract. Patients were administered either 1.6 mL/kg of Iodixanol 320 mgI/mL or 1.3 mL/kg of Iomeprol 400 mgI/mL. RESULTS: In total, 144 CT scans were analysed, subdivided into two groups administered either Iodixanol (71/144 (49.3%) patients) or Iomeprol (73/144 (50.7%) patients). In 41% cases, no beam hardening artefacts were found; among these, 12/59 (20.3%) patients had received Iodixanol and 47/59 (79.7%) Iomeprol. In the Iodixanol group, the mean contrast density on the renal pelvis was 2565.6 HU and streak artefacts occurred in 59/71 cases (83.1%); in 33/59 (55.9%) cases, the artefacts were marked, and in 26/59 (44.1%) minimal. In the Iomeprol group, the mean contrast density on the renal pelvis was 1666 HU and streak artefacts occurred in 26/73 cases (35.6%); in 7/26 (27%) cases, the artefacts were marked and in 19/26 (73%) minimal. CONCLUSION: The study data demonstrate a significant difference in the attenuation values of iodine urine in the excretory system between the Iodixanol and Iomeprol group. Iodixanol induced a higher frequency and burden of artefacts, compared to Iomeprol.

CT pulmonary angiography appropriateness in a single emergency department: does the use of revised Geneva score matter?

PURPOSE: To assess the percentage of computed tomography pulmonary angiography (CTPA) procedures that could have been avoided by methodical application of the Revised Geneva Score (RGS) coupled with age-adjusted D-dimer cut-offs rather than only clinical judgment in Emergency Department patients with suspected pulmonary embolism (PE). MATERIAL AND METHODS: Between November 2019 and May 2020, 437 patients with suspected PE based on symptoms and D-dimer test were included in this study. All patients underwent to CTPA. For each patient, we retrospectively calculated the age-adjusted D-dimer cut-offs and the RGS in the original version. Finally, CT images were retrospectively reviewed, and the presence of PE was recorded. RESULTS: In total, 43 (9.84%) CTPA could have been avoided by use of RGS coupled with age-adjusted D-dimer cut-offs. Prevalence of PE was 14.87%. From the analysis of 43 inappropriate CTPA, 24 (55.81%) of patients did not show any thoracic signs, two (4.65%) of patients had PE, and the remaining patients had alternative thoracic findings. CONCLUSION: The study showed good prevalence of PE diagnoses in our department using only physician assessment, although 9.84% CTPA could have been avoided by methodical application of RGS coupled with age-adjusted D-dimer cut-offs.

Magnetic resonance imaging for deep infiltrating endometriosis: current concepts, imaging technique and key findings.

Endometriosis is an estrogen-dependent chronic disease affecting about 10% of reproductive-age women with symptoms like pelvic pain and infertility. Pathologically, it is defined by the presence of endometrial tissue outside the uterine cavity responsible for a chronic inflammatory process. For decades the diagnosis of endometriosis was based on surgical exploration and biopsy of pelvic lesions. However, laparoscopy is not a risk-free procedure with possible false negative diagnosis due to an underestimate of retroperitoneal structures such as ureters and nerves. For these reasons nowadays, the diagnosis of endometriosis is based on a noninvasive approach where clinical history, response to therapy and imaging play a fundamental role. Trans-vaginal ultrasound and magnetic resonance imaging are suitable for recognizing most of endometriotic lesions; nevertheless, their accuracy is strictly determined by operators' experience and imaging technique. This review paper aims to make radiologists aware of the diagnostic possibilities of pelvic MRI and familial with the MR acquisition protocols and image interpretation for women with endometriosis.

A critical review of the anthropological and paleopathological literature on osteopetrosis as an ancient rare disease (ARD).

OBJECTIVE: A reappraisal of the available evidence of osteopetrosis in the archaeological record as first step in promoting new approaches to rare diseases in paleopathology. MATERIALS AND METHODS: Three different approaches are combined: a survey of the last 50 years of bioarchaeological publications; an online search addressing six of the more widely used search engines; macroscopic and radiographic analyses of the human remains from the Neolithic site of Palata 2 (Italy). RESULTS: The combined results of the literature survey and the online search identified six cases of osteopetrosis. The majority of search hits place this disease into differential diagnoses. The investigation of the remains from Palata 2, one of the six cases in literature, indicates a non-specific sclerosis of the cranial vault. CONCLUSIONS: Of the six cases of osteopetrosis, only two, one of the autosomal-recessive type (ARO) and one of the autosomal-dominant type (ADO), are supported by direct osteoarchaeological evidence. Therefore, inaccurate differential diagnoses generate an inflated number of cases in the paleopathological record. SIGNIFICANCE: This reappraisal calls for a more informed and evidence-based approach to osteopetrosis and, more generally, to rare diseases in paleopathology. LIMITATIONS: Lack of specific publications on osteopetrosis; more case studies may be present in "gray literature". SUGGESTIONS FOR FURTHER RESEARCH: Cases of osteopetrosis from archaeological and historical collections as well as medical literature are needed to increase knowledge about this rare disease. More precise differential diagnoses are required, particularly when dealing with rare diseases.

Clinical and radiological criteria for the differential diagnosis between asbestosis and idiopathic pulmonary fibrosis: Application in two cases.

INTRODUCTION: Idiopathic pulmonary fibrosis (IPF) and asbestosis are pulmonary interstitial diseases that may present overlapping clinical aspects in the full-blown phase of the disease. For both clinical entities the gold standard for diagnosis is histological examination, but its execution poses ethical problems, especially when performed for preventive or forensic purposes. OBJECTIVE: To evaluate the application of internationally accepted clinical, anamnestic and radiological criteria for differential diagnosis between asbestosis and IPF, and to assess the ability to discriminate between the two diseases. Even if clinically similar, the two diseases present extremely different prognostic and therapeutic perspectives. METHODS: Two clinical cases of IPF are reported, in which the differential diagnosis was made by studying occupational exposure to asbestos, the onset and progression of clinical symptoms, and the identification of specific radiological elements by means of chest High Resolution Computed Tomography (HRCT). RESULTS: The diagnosis of IPF could be made on the basis of the absence of significant exposure to asbestos, the early onset and rapid progression of dyspnea and restrictive ventilatory defects, in association with a pulmonary radiological pattern characterized by peculiar elements such as honeycombing. DISCUSSION: The diagnostic procedure adopted to make a differential diagnosis with asbestosis provides practical clinical elements facilitating the differentiation between the two forms of pulmonary fibrosis, a fundamental aspect of the activity of the occupational physician.

Coronary Flow and Reserve by Enhanced Transthoracic Doppler Trumps Coronary Anatomy by Computed Tomography in Assessing Coronary Artery Stenosis.

We report the case of a 71-year-old patient with many risk factors for coronary atherosclerosis, who underwent computed coronary angiography (CTA), in accordance with the guidelines, for recent onset atypical chest pain. CTA revealed critical (>50% lumen diameter narrowing) stenosis of the proximal anterior descending coronary, and the patient was scheduled for invasive coronary angiography (ICA). Before ICA he underwent enhanced transthoracic echo-Doppler (E-Doppler TTE) for coronary flow detection by color-guided pulsed-wave Doppler recording of the left main (LMCA) and whole left anterior descending coronary artery (LAD,) along with coronary flow reserve (CFR) in the distal LAD calculated as the ratio, of peak flow velocity during i.v. adenosine (140 mcg/Kg/m) to resting flow velocity. E-Doppler TTE mapping revealed only mild stenosis (28% area narrowing) of the mid LAD and a CFR of 3.20, in perfect agreement with the color mapping showing no flow limiting stenosis in the LMCA and LAD. ICA revealed only a very mild stenosis in the mid LAD and mild atherosclerosis in the other coronaries (intimal irregularities). Thus, coronary stenosis was better predicted by E-Doppler TTE than by CTA. Coronary flow and reserve as assessed by E-Doppler TTE trumps coronary anatomy as assessed by CTA, without exposing the patient to harmful radiation and iodinated contrast medium.

Ultrasound of the Uterosacral Ligament, Parametrium, and Paracervix: Disagreement in Terminology between Imaging Anatomy and Modern Gynecologic Surgery.

Ultrasound is an effective tool to detect and characterize lesions of the uterosacral ligament, parametrium, and paracervix. They may be the site of diseases such as endometriosis and the later stages of cervical cancer. Endometriosis and advanced stages of cervical cancer may infiltrate the parametrium and may also involve the ureter, resulting in a more complex surgery. New functional, surgical anatomy requires the complete diagnostic description of retroperitoneal spaces and tissues that contain vessels and nerves. Most endometriosis lesions and cervical cancer spread involve the cervical section of the uterosacral ligament, which is close to tissues, namely the parametrium and paracervix, which contain vessels and important nerves and nerve anastomoses of the inferior hypogastric plexus. Efferent fibers of the plexus travel to the rectum, uterus, rectovaginal ligament, deep vesicouterine ligament, and bladder. These efferent fibers are essential for bladder and rectal functionality so tailored nerve-sparing surgery became a standard approach for treating deep infiltrating endometriosis and cervical cancer. An accurate diagnosis by ultrasound has significant clinical impact and is important for appropriate treatment. In this article, we try to establish a common terminology between imaging diagnostic and modern surgical anatomy.

Prevalence and clinical significance of incidental extra-intestinal findings in MR enterography: experience of a single University Centre.

PURPOSE: To determine the incidence and clinical relevance of extra-intestinal incidental findings (IF) in a cohort of patients with proven or suspected Crohn disease (CD) examined with magnetic resonance enterography (MR-E) in a single University Centre. METHODS: Between January 2018 and June 2019, 182 patients with proven or suspected CD with a planned first MR-E examination, were retrospectively included in this study. Incidental findings were considered as any abnormality identified in the absence of previous clinically suspected or known disease. IF were categorized as unremarkable, benign or potentially relevant findings requiring further imaging or specific treatment. RESULTS: Of the 182 revised MR-E, extra-intestinal IF were recorded in 70 cases (38.5%); 35 (50%) incidental lesions were recognized as non-significant, 24 (34%) as benign and 11 (16%) as clinically relevant. Moreover, there was a positive correlation between IF and patients' age (p < 0.0001). CONCLUSIONS: In our experience, a high number of IF (38.5%) was found, with a prevalence that increases with patients' age. Clinically relevant findings were found in 16% of MR-E. This means that MR-E is a useful tool to detect IF, therefore, the presence of a radiologist during the image acquisition is crucial in adding sequences to the examination.

Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study.

AIMS: We aimed at addressing the role of late gadolinium enhancement (LGE) in arrhythmic risk stratification of LMNA-associated cardiomyopathy (CMP). METHODS AND RESULTS: We present data from a multicentre national cohort of patients with LMNA mutations. Of 164 screened cases, we finally enrolled patients with baseline cardiac magnetic resonance (CMR) including LGE sequences [n = 41, age 35 ± 17 years, 51% males, mean left ventricular ejection fraction (LVEF) by echocardiogram 56%]. The primary endpoint of the study was follow-up (FU) occurrence of malignant ventricular arrhythmias [MVA, including sustained ventricular tachycardia (VT), ventricular fibrillation, and appropriate implantable cardioverter-defibrillator (ICD) therapy]. At baseline CMR, 25 subjects (61%) had LGE, with non-ischaemic pattern in all of the cases. Overall, 23 patients (56%) underwent ICD implant. By 10 ± 3 years FU, eight patients (20%) experienced MVA, consisting of appropriate ICD shocks in all of the cases. In particular, the occurrence of MVA in LGE+ vs. LGE- groups was 8/25 vs. 0/16 (P = 0.014). Of note, no significant differences between LGE+ and LGE- patients were found in currently recognized risk factors for sudden cardiac death (male gender, non-missense mutations, baseline LVEF <45% and non-sustained VT), all P-value >0.05. CONCLUSIONS: In LMNA-CMP patients, LGE at baseline CMR is significantly associated with MVA. In particular, as suggested by this preliminary experience, the absence of LGE allowed to rule-out MVA at 10 years mean FU.