The detection rate for prostate cancer in systematic and targeted prostate biopsy in biopsy-naive patients, according to the localization of the lesion at the mpMRI: A single-center retrospective observational study.

OBJECTIVE: Evaluate the detection rates of systematic, targeted and combined cores at biopsy according to tumor positions in biopsy-naïve patients. MATERIAL AND METHODS: A retrospective analysis of a single-center patient cohort (n = 501) that underwent transrectal prostate biopsy between January 2017 and December 2019 was performed. Multi-parametric MRI was executed as a prebiopsy investigation. Biopsy protocol included, for each patient, 12 systematic cores plus 3 to 5 targeted cores per lesion identified at the mpMRI. Pearson and McNemar chi-squared tests were used for statistical analysis to compare tumor location-related detection rates of systematic, targeted and combined (systematic + targeted) cores at biopsy. RESULTS: Median age of patients was 70 years (IQR 62-72), with a median PSA of 8.5 ng/ml (IQR 5.7-15.6). Positive biopsies were obtained in 67.7% of cases. Overall, targeted cores obtained higher detection rates compared to systematic cores (54.3% vs. 43.1%, p < 0.0001). Differences in detection rates were, however, higher for tumors located at the apex (61.1% vs. 26.3%, p < 0.05) and anteriorly (44.4% vs. 19.3%, p < 0.05). Targeted cores similarly obtained higher detection rates in the posterior zone of the prostate gland for clinically significant prostate cancer. A poor agreement was reported between targeted and systematic cores for the apex and anterior zone of the prostate with, respectively κ = 0.028 and κ = -0.018. CONCLUSION: A combined approach of targeted and systematic biopsy delivers the highest detection rate in prostate cancer (PCa). The location of the tumor could however greatly influence overall detection rates, indicating the possibility to omit (as for the base or posterior zone of the gland) or add (as for the apex or anterior zone of the gland) further targeted cores.

Image quality of whole-body diffusion MR images comparing deep-learning accelerated and conventional sequences.

OBJECTIVES: To compare the image quality of deep learning accelerated whole-body (WB) with conventional diffusion sequences. METHODS: Fifty consecutive patients with bone marrow cancer underwent WB-MRI. Two experts compared axial b900 s/mm2 and the corresponding maximum intensity projections (MIP) of deep resolve boost (DRB) accelerated diffusion-weighted imaging (DWI) sequences (time of acquisition: 6:42 min) against conventional sequences (time of acquisition: 14 min). Readers assessed paired images for noise, artefacts, signal fat suppression, and lesion conspicuity using Likert scales, also expressing their overall subjective preference. Signal-to-noise and contrast-to-noise ratios (SNR and CNR) and the apparent diffusion coefficient (ADC) values of normal tissues and cancer lesions were statistically compared. RESULTS: Overall, radiologists preferred either axial DRB b900 and/or corresponding MIP images in almost 80% of the patients, particularly in patients with a high body-mass index (BMI > 25 kg/m2). In qualitative assessments, axial DRB images were preferred (preferred/strongly preferred) in 56-100% of cases, whereas DRB MIP images were favoured in 52-96% of cases. DRB-SNR/CNR was higher in all normal tissues (p < 0.05). For cancer lesions, the DRB-SNR was higher (p < 0.001), but the CNR was not different. DRB-ADC values were significantly higher for the brain and psoas muscles, but not for cancer lesions (mean difference: + 53 µm2/s). Inter-class correlation coefficient analysis showed good to excellent agreement (95% CI 0.75-0.93). CONCLUSION: DRB sequences produce higher-quality axial DWI, resulting in improved MIPs and significantly reduced acquisition times. However, differences in the ADC values of normal tissues need to be considered. CLINICAL RELEVANCE STATEMENT: Deep learning accelerated diffusion sequences produce high-quality axial images and MIP at reduced acquisition times. This advancement could enable the increased adoption of Whole Body-MRI for the evaluation of patients with bone marrow cancer. KEY POINTS: Deep learning reconstruction enables a more than 50% reduction in acquisition time for WB diffusion sequences. DRB images were preferred by radiologists in almost 80% of cases due to fewer artefacts, improved background signal suppression, higher signal-to-noise ratio, and increased lesion conspicuity in patients with higher body mass index. Cancer lesion diffusivity from DRB images was not different from conventional sequences.

Evaluating the quality of radiomics-based studies for endometrial cancer using RQS and METRICS tools.

OBJECTIVE: To assess the methodological quality of radiomics-based models in endometrial cancer using the radiomics quality score (RQS) and METhodological radiomICs score (METRICS). METHODS: We systematically reviewed studies published by October 30th, 2023. Inclusion criteria were original radiomics studies on endometrial cancer using CT, MRI, PET, or ultrasound. Articles underwent a quality assessment by novice and expert radiologists using RQS and METRICS. The inter-rater reliability for RQS and METRICS among radiologists with varying expertise was determined. Subgroup analyses were performed to assess whether scores varied according to study topic, imaging technique, publication year, and journal quartile. RESULTS: Sixty-eight studies were analysed, with a median RQS of 11 (IQR, 9-14) and METRICS score of 67.6% (IQR, 58.8-76.0); two different articles reached maximum RQS of 19 and METRICS of 90.7%, respectively. Most studies utilised MRI (82.3%) and machine learning methods (88.2%). Characterisation and recurrence risk stratification were the most explored outcomes, featured in 35.3% and 19.1% of articles, respectively. High inter-rater reliability was observed for both RQS (ICC: 0.897; 95% CI: 0.821, 0.946) and METRICS (ICC: 0.959; 95% CI: 0.928, 0.979). Methodological limitations such as lack of external validation suggest areas for improvement. At subgroup analyses, no statistically significant difference was noted. CONCLUSIONS: Whilst using RQS, the quality of endometrial cancer radiomics research was apparently unsatisfactory, METRICS depicts a good overall quality. Our study highlights the need for strict compliance with quality metrics. Adhering to these quality measures can increase the consistency of radiomics towards clinical application in the pre-operative management of endometrial cancer. CLINICAL RELEVANCE STATEMENT: Both the RQS and METRICS can function as instrumental tools for identifying different methodological deficiencies in endometrial cancer radiomics research. However, METRICS also reflected a focus on the practical applicability and clarity of documentation. KEY POINTS: The topic of radiomics currently lacks standardisation, limiting clinical implementation. METRICS scores were generally higher than the RQS, reflecting differences in the development process and methodological content. A positive trend in METRICS score may suggest growing attention to methodological aspects in radiomics research.

ESR Essentials: using the right scoring system in prostate MRI-practice recommendations by ESUR.

MRI has gained prominence in the diagnostic workup of prostate cancer (PCa) patients, with the Prostate Imaging Reporting and Data System (PI-RADS) being widely used for cancer detection. Beyond PI-RADS, other MRI-based scoring tools have emerged to address broader aspects within the PCa domain. However, the multitude of available MRI-based grading systems has led to inconsistencies in their application within clinical workflows. The Prostate Cancer Radiological Estimation of Change in Sequential Evaluation (PRECISE) assesses the likelihood of clinically significant radiological changes of PCa during active surveillance, and the Prostate Imaging for Local Recurrence Reporting (PI-RR) scoring system evaluates the risk of local recurrence after whole-gland therapies with curative intent. Underlying any system is the requirement to assess image quality using the Prostate Imaging Quality Scoring System (PI-QUAL). This article offers practicing radiologists a comprehensive overview of currently available scoring systems with clinical evidence supporting their use for managing PCa patients to enhance consistency in interpretation and facilitate effective communication with referring clinicians. KEY POINTS: Assessing image quality is essential for all prostate MRI interpretations and the PI-QUAL score represents  the standardized tool for this purpose. Current urological clinical guidelines for prostate cancer diagnosis and localization recommend adhering to the PI-RADS recommendations. The PRECISE and PI-RR scoring systems can be used for assessing radiological changes of prostate cancer during active surveillance and the likelihood of local recurrence after radical treatments respectively.

Ovarian imaging radiomics quality score assessment: an EuSoMII radiomics auditing group initiative.

OBJECTIVE: To evaluate the methodological rigor of radiomics-based studies using noninvasive imaging in ovarian setting. METHODS: Multiple medical literature archives (PubMed, Web of Science, and Scopus) were searched to retrieve original studies focused on computed tomography (CT), magnetic resonance imaging (MRI), ultrasound (US), or positron emission tomography (PET) radiomics for ovarian disorders' assessment. Two researchers in consensus evaluated each investigation using the radiomics quality score (RQS). Subgroup analyses were performed to assess whether the total RQS varied according to first author category, study aim and topic, imaging modality, and journal quartile. RESULTS: From a total of 531 items, 63 investigations were finally included in the analysis. The studies were greatly focused (94%) on the field of oncology, with CT representing the most used imaging technique (41%). Overall, the papers achieved a median total RQS 6 (IQR, -0.5 to 11), corresponding to a percentage of 16.7% of the maximum score (IQR, 0-30.6%). The scoring was low especially due to the lack of prospective design and formal validation of the results. At subgroup analysis, the 4 studies not focused on oncological topic showed significantly lower quality scores than the others. CONCLUSIONS: The overall methodological rigor of radiomics studies in the ovarian field is still not ideal, limiting the reproducibility of results and potential translation to clinical setting. More efforts towards a standardized methodology in the workflow are needed to allow radiomics to become a viable tool for clinical decision-making. KEY POINTS: • The 63 included studies using noninvasive imaging for ovarian applications were mostly focused on oncologic topic (94%). • The included investigations achieved a median total RQS 6 (IQR, -0.5 to 11), indicating poor methodological rigor. • The RQS was low especially due to the lack of prospective design and formal validation of the results.

Radiomics for the identification of extraprostatic extension with prostate MRI: a systematic review and meta-analysis.

OBJECTIVES: Extraprostatic extension (EPE) of prostate cancer (PCa) is predicted using clinical nomograms. Incorporating MRI could represent a leap forward, although poor sensitivity and standardization represent unsolved issues. MRI radiomics has been proposed for EPE prediction. The aim of the study was to systematically review the literature and perform a meta-analysis of MRI-based radiomics approaches for EPE prediction. MATERIALS AND METHODS: Multiple databases were systematically searched for radiomics studies on EPE detection up to June 2022. Methodological quality was appraised according to Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) tool and radiomics quality score (RQS). The area under the receiver operating characteristic curves (AUC) was pooled to estimate predictive accuracy. A random-effects model estimated overall effect size. Statistical heterogeneity was assessed with I2 value. Publication bias was evaluated with a funnel plot. Subgroup analyses were performed to explore heterogeneity. RESULTS: Thirteen studies were included, showing limitations in study design and methodological quality (median RQS 10/36), with high statistical heterogeneity. Pooled AUC for EPE identification was 0.80. In subgroup analysis, test-set and cross-validation-based studies had pooled AUC of 0.85 and 0.89 respectively. Pooled AUC was 0.72 for deep learning (DL)-based and 0.82 for handcrafted radiomics studies and 0.79 and 0.83 for studies with multiple and single scanner data, respectively. Finally, models with the best predictive performance obtained using radiomics features showed pooled AUC of 0.82, while those including clinical data of 0.76. CONCLUSION: MRI radiomics-powered models to identify EPE in PCa showed a promising predictive performance overall. However, methodologically robust, clinically driven research evaluating their diagnostic and therapeutic impact is still needed. CLINICAL RELEVANCE STATEMENT: Radiomics might improve the management of prostate cancer patients increasing the value of MRI in the assessment of extraprostatic extension. However, it is imperative that forthcoming research prioritizes confirmation studies and a stronger clinical orientation to solidify these advancements. KEY POINTS: • MRI radiomics deserves attention as a tool to overcome the limitations of MRI in prostate cancer local staging. • Pooled AUC was 0.80 for the 13 included studies, with high heterogeneity (84.7%, p < .001), methodological issues, and poor clinical orientation. • Methodologically robust radiomics research needs to focus on increasing MRI sensitivity and bringing added value to clinical nomograms at patient level.

Cardiac CT and MRI radiomics: systematic review of the literature and radiomics quality score assessment.

OBJECTIVE: To systematically review and evaluate the methodological quality of studies using magnetic resonance imaging (MRI) and computed tomography (CT) radiomics for cardiac applications. METHODS: Multiple medical literature archives (PubMed, Web of Science, and EMBASE) were systematically searched to retrieve original studies focused on cardiac MRI and CT radiomics applications. Two researchers in consensus assessed each investigation using the radiomics quality score (RQS). Subgroup analyses were performed to assess whether the total RQS varied according to study aim, journal quartile, imaging modality, and first author category. RESULTS: From a total of 1961 items, 53 articles were finally included in the analysis. Overall, the studies reached a median total RQS of 7 (IQR, 4-12), corresponding to a percentage score of 19.4% (IQR, 11.1-33.3%). Item scores were particularly low due to lack of prospective design, cost-effectiveness analysis, and open science. Median RQS percentage score was significantly higher in papers where the first author was a medical doctor and in those published on first quartile journals. CONCLUSIONS: The overall methodological quality of radiomics studies in cardiac MRI and CT is still lacking. A higher degree of standardization of the radiomics workflow and higher publication standards for studies are required to allow its translation into clinical practice. KEY POINTS: • RQS has been recently proposed for the overall assessment of the methodological quality of radiomics-based studies. • The 53 included studies on cardiac MRI and CT radiomics applications reached a median total RQS of 7 (IQR, 4-12), corresponding to a percentage of 19.4% (IQR, 11.1-33.3%). • A more standardized methodology in the radiomics workflow is needed, especially in terms of study design, validation, and open science, in order to translate the results to clinical applications.

Cardiovascular magnetic resonance native T1 mapping in Anderson-Fabry disease: a systematic review and meta-analysis.

BACKGROUND: T1 mapping is an established cardiovascular magnetic resonance (CMR) technique that can characterize myocardial tissue. We aimed to determine the weighted mean native T1 values of Anderson-Fabry disease (AFD) patients and the standardized mean differences (SMD) as compared to healthy control subjects. METHODS: A comprehensive literature search of the PubMed, Scopus and Web of Science databases was conducted according to the PRISMA statement to retrieve original studies reporting myocardial native T1 values in AFD patients and healthy controls. A random effects model was used to calculate SMD, and meta-regression analysis was conducted to explore heterogeneity sources. Subgroup analysis was also performed according to scanner field strength and sequence type. RESULTS: From a total of 151 items, 14 articles were included in the final analysis accounting for a total population of 982 subjects. Overall, the weighted mean native T1 values was 984 ± 47 ms in AFD patients and 1016 ± 26 ms in controls (P < 0.0001) with a pooled SMD of - 2.38. In AFD patients there was an inverse correlation between native T1 values and male gender (P = 0.002) and left ventricular hypertrophy (LVH) (P < 0.001). Subgroup analyses confirmed lower T1 values in AFD patients compared to controls with a pooled SMD of -  2.54, -  2.28, -  2.46 for studies performed on 1.5T with modified Look-Locker inversion recovery (MOLLI), shortened MOLLI and saturation-recovery single-shot acquisition, respectively and of -  2.41 for studies conducted on 3T. CONCLUSIONS: Our findings confirm a reduction of native T1 values in AFD patients compared to healthy controls and point out that the degree of T1 shortening in AFD is influenced by gender and LVH. Although T1 mapping is useful in proving cardiac involvement in AFD patients, there is need to standardize shreshold values according to imaging equipment and protocols.

Clinically Significant Prostate Cancer Detection With Biparametric MRI: A Systematic Review and Meta-Analysis.

OBJECTIVE. The purpose of this study was to perform a systematic review and a meta-analysis of diagnostic accuracy studies that used biparametric MRI (bpMRI) for the detection of clinically significant prostate cancer (csPCa). MATERIALS AND METHODS. Multiple medical databases were systematically searched to identify articles using bpMRI for csPCa detection. Sensitivity, specificity, PPV, and NPV were calculated for each study after enough data were extracted to create a 2 × 2 contingency table. Risk of bias was assessed using the QUADAS-2 tool. Meta-analyses based on bivariate random-effects methods were used to calculate pooled sensitivity, specificity, and summary ROC (SROC) curves. A meta-regression analysis was performed to assess heterogeneity sources. RESULTS. A total of 17 studies (3964 patients) that adopted PI-RADS or other scoring systems were included. Sensitivity, specificity, positive likelihood ratio (LR), negative LR, and diagnostic odds ratio of bpMRI in the detection of csPCa were 0.83 (95% CI, 0.76-0.88), 0.71 (95% CI, 0.63-0.79), 2.9 (95% CI, 2.3-3.7), 0.24 (95% CI, 0.17-0.33), and 12 (95% CI, 8-19), respectively, with an area under the SROC curve of 0.84 (95% CI, 0.81-0.87). The overall quality of the included studies was heterogeneous. CONCLUSION. Our results confirm the feasibility of bpMRI for the detection of csPCa and for reducing acquisition time, patient discomfort, and costs. Nevertheless, the available studies proved to be heterogeneous, indicating a need for a more robust validation of this imaging protocol and a standardization of prostate bpMRI acquisition and reporting.

Machine learning for the identification of clinically significant prostate cancer on MRI: a meta-analysis.

OBJECTIVES: The aim of this study was to systematically review the literature and perform a meta-analysis of machine learning (ML) diagnostic accuracy studies focused on clinically significant prostate cancer (csPCa) identification on MRI. METHODS: Multiple medical databases were systematically searched for studies on ML applications in csPCa identification up to July 31, 2019. Two reviewers screened all papers independently for eligibility. The area under the receiver operating characteristic curves (AUC) was pooled to quantify predictive accuracy. A random-effects model estimated overall effect size while statistical heterogeneity was assessed with the I2 value. A funnel plot was used to investigate publication bias. Subgroup analyses were performed based on reference standard (biopsy or radical prostatectomy) and ML type (deep and non-deep). RESULTS: After the final revision, 12 studies were included in the analysis. Statistical heterogeneity was high both in overall and in subgroup analyses. The overall pooled AUC for ML in csPCa identification was 0.86, with 0.81-0.91 95% confidence intervals (95%CI). The biopsy subgroup (n = 9) had a pooled AUC of 0.85 (95%CI = 0.79-0.91) while the radical prostatectomy one (n = 3) of 0.88 (95%CI = 0.76-0.99). Deep learning ML (n = 4) had a 0.78 AUC (95%CI = 0.69-0.86) while the remaining 8 had AUC = 0.90 (95%CI = 0.85-0.94). CONCLUSIONS: ML pipelines using prostate MRI to identify csPCa showed good accuracy and should be further investigated, possibly with better standardisation in design and reporting of results. KEY POINTS: • Overall pooled AUC was 0.86 with 0.81-0.91 95% confidence intervals. • In the reference standard subgroup analysis, algorithm accuracy was similar with pooled AUCs of 0.85 (0.79-0.91 95% confidence intervals) and 0.88 (0.76-0.99 95% confidence intervals) for studies employing biopsies and radical prostatectomy, respectively. • Deep learning pipelines performed worse (AUC = 0.78, 0.69-0.86 95% confidence intervals) than other approaches (AUC = 0.90, 0.85-0.94 95% confidence intervals).

Identification and typing of cardiac amyloidosis by noninvasive imaging: Two cases for two patterns.

Cardiac amyloidosis is a restrictive infiltrative cardiomyopathy burdened by high mortality. The two more common forms are immunoglobulin light-chain amyloidosis and transthyretin-related amyloidosis with different prognoses and treatments. However, distinguishing between them is challenging. Appropriate utilization of the different available imaging techniques in the evaluation of patients with known or suspected cardiac amyloidosis is mandatory. We report two cases with cardiac amyloidosis of different etiology and with distinct imaging patterns. In the first case, the negative 99mTc-diphosphonate imaging was useful to support the diagnosis of cardiac amyloid light-chain; the second case emphasized the utility of whole-body scintigraphy in recognizing transthyretin-related cardiac amyloidosis and the potential role of cadmium-zinc-telluride SPECT imaging for the evaluation of segmental distribution of cardiac disease. Both cases support the growing interest in looking for noninvasive methods to type cardiac amyloidosis in the place of invasive myocardial biopsy highlighting both possibilities and limitations of available imaging techniques in diagnosis and treatment monitoring.

Aberrant right coronary artery in a grown up congenital cardiac patient, successfully treated 46 years earlier with a double Starr-Edwards silastic ball valve replacement: a case report.

BACKGROUND: The Starr-Edwards ball valve prosthesis was successfully introduced in 1961-62 and largely used for aortic and mitral valve replacement. Even if Starr-Edwards valves have been widely replaced in clinical practice by other mechanical valves, they define a standard concerning long-term durability. CASE PRESENTATION: We describe the case of a 55-year-old man referred to our Department to perform a cardiac computed tomography (CCT), to better evaluate a severe dilation of ascending aorta discovered at echocardiography. The patient had been surgically treated 46 years earlier to correct a supra-cristal type ventricular septal defect. Both mitral and aortic valves were replaced, respectively due to bacterial mitral endocarditis and a fibrous sub-valvular aortic stenosis. In addition, the right coronary artery (RCA) was found to arise from the left coronary sinus. CONCLUSION: We report the longest lasting durability (46 years) of aortic and mitral Starr-Edwards valves successfully implanted in a patient simultaneously carrying a malignant anomalous origin of RCA.

Imaging findings in hypophysitis: a review.

Hypophysitis (HP) is a rare acute or chronic inflammatory condition of the pituitary gland. The greatest challenge in the management of HP is establishing a diagnosis through clinical criteria and non-invasive methods and predicting the patients' clinical outcome. The aim of this review is to describe the neuroradiological findings of this rare disease, providing some information regarding the possible differential diagnosis in order to avoid unnecessary surgery. Gadolinium-enhanced pituitary magnetic resonance imaging (MRI) is considered the neuroradiological investigation of choice. The features suggestive for HP include an enlarged triangular- or dumbbell-shaped gland with a thickened and not obviously deviated stalk, further supported by the absence of posterior pituitary bright spot on T1weighted images, particularly in patients presenting with diabetes insipidus. Contrast enhancement pattern is quite variable; dural enhancement has been reported in some cases after intravenous contrast administration. The characterization of the unusual sellar mass is not straightforward and generally results in a wide differential. HP should be primarily differentiated from pituitary adenomas (including pituitary apoplexy), from pituitary metastases, and from other sellar and parasellar tumors, e.g., craniopharyngiomas, germinomas, gliomas, lymphomas, meningiomas, pituicytomas, chordomas, teratomas, dermoids and epidermoids, Rathke's cleft cysts, and abscesses. In patients suspected for secondary forms related to systemic pathology, additional imaging is helpful in identifying other involved sites. Neuroradiologists need to know MRI appearance of this rare disease, as well as its typical symptoms and serological markers. A strict collaboration with endocrinologists and neurosurgeons is mandatory in order to reach a definitive diagnosis, allowing to promptly initiating an appropriate treatment.

Assessment of acute myocarditis by cardiac magnetic resonance imaging: Comparison of qualitative and quantitative analysis methods.

BACKGROUND: To compare cardiac magnetic resonance (CMR) qualitative and quantitative analysis methods for the noninvasive assessment of myocardial inflammation in patients with suspected acute myocarditis (AM). METHODS: A total of 61 patients with suspected AM underwent coronary angiography and CMR. Qualitative analysis was performed applying Lake-Louise Criteria (LLC), followed by quantitative analysis based on the evaluation of edema ratio (ER) and global relative enhancement (RE). Diagnostic performance was assessed for each method by measuring the area under the curves (AUC) of the receiver operating characteristic analyses. The final diagnosis of AM was based on symptoms and signs suggestive of cardiac disease, evidence of myocardial injury as defined by electrocardiogram changes, elevated troponin I, exclusion of coronary artery disease by coronary angiography, and clinical and echocardiographic follow-up at 3 months after admission to the chest pain unit. RESULTS: In all patients, coronary angiography did not show significant coronary artery stenosis. Troponin I levels and creatine kinase were higher in patients with AM compared to those without (both P < .001). There were no significant differences among LLC, T2-weighted short inversion time inversion recovery (STIR) sequences, early (EGE), and late (LGE) gadolinium-enhancement sequences for diagnosis of AM. The AUC for qualitative (T2-weighted STIR 0.92, EGE 0.87 and LGE 0.88) and quantitative (ER 0.89 and global RE 0.80) analyses were also similar. CONCLUSIONS: Qualitative and quantitative CMR analysis methods show similar diagnostic accuracy for the diagnosis of AM. These findings suggest that a simplified approach using a shortened CMR protocol including only T2-weighted STIR sequences might be useful to rule out AM in patients with acute coronary syndrome and normal coronary angiography.

Cardiac sympathetic neuronal damage precedes myocardial fibrosis in patients with Anderson-Fabry disease.

PURPOSE: Cardiac sympathetic denervation may be detectable in patients with Anderson-Fabry disease (AFD), suggesting its usefulness for early detection of the disease. However, the relationship between sympathetic neuronal damage measured by 123I-metaiodobenzylguanidine (MIBG) imaging with myocardial fibrosis on cardiac magnetic resonance (CMR) is still unclear. METHODS: Cardiac sympathetic innervation was assessed by 123I-MIBG single-photon emission computed tomography (SPECT) in 25 patients with genetically proved AFD. Within one month from MIBG imaging, all patients underwent contrast-enhanced CMR. MIBG defect size and fibrosis size on CMR were measured for the left ventricle (LV) and expressed as %LV. RESULTS: Patients were divided into three groups according to MIBG and CMR findings: (1) matched normal, without MIBG defects and without fibrosis on CMR (n = 10); (2) unmatched, with MIBG defect but without fibrosis (n = 5); and (3) matched abnormal, with MIBG defect and fibrosis (n = 10). The three groups did not differ with respect to age, gender, α-galactosidase, proteinuria, glomerular filtration rate, and troponin I, while New York Heart Association class (p = 0.008), LV hypertrophy (p = 0.05), and enzyme replacement therapy (p = 0.02) were different among groups. Although in patients with matched abnormal findings, there was a significant correlation between MIBG defect size and area of fibrosis at CMR (r2 = 0.98, p < 0.001), MIBG defect size was larger than fibrosis size (26 ± 23 vs. 18 ± 13%LV, p = 0.02). CONCLUSION: Sympathetic neuronal damage is frequent in AFD patients, and it may precede myocardial damage, such as fibrosis. Thus, 123I-MIBG imaging can be considered a challenging technique for early detection of cardiac involvement in AFD.