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Background: Anderson–Fabry disease (AFD) is a rare genetic disorder characterized by a deficiency of α-galactosidase A activity and the accumulation of glycosphingolipids in tissues, which leads to multiorgan damage. Cardiovascular magnetic resonance (CMR) and the T1 mapping technique are essential tools for the assessment of AFD cardiac involvement. Moreover, the T1 mapping technique has proved to be a successful non-invasive method for the early detection of patients most at risk for kidney disease. We evaluated the application of MRI in patients with AFD to assess renal involvement. Methods: We conducted a retrospective analysis of 19 patients (Group A) with histologically proven AFD who underwent routine CMR examinations for the evaluation of cardiac involvement, selecting specific sequences that also showed the left kidney, compared to a control population (Group B, 19 patients) without kidney disease. A Spearman’s rank-order correlation was run to assess the relationship between the T1 mapping values of the heart and kidney in Group A and between the kidneys of Groups A and B. Results: There was a positive correlation between the heart and kidney T1 values in Group A (rho = 0.32). More interestingly, we observed a negative correlation between the kidney values of both groups (Group A mean 1284 ± 137 ms, Group B mean 1073 ± 57 ms, rho = −0.38), which is probably related to the presence of microvascular damage and infiltrates in the kidneys of AFD patients. Conclusions: To our knowledge, these results are the first to highlight the key value of T1 mapping in assessing pathological changes and aiding in the non-invasive diagnosis of renal involvement in AFD.

Dystrophin (DMD) gene mutations are associated with skeletal muscle diseases such as Duchenne and Becker Muscular Dystrophy (BMD) and X-linked dilated cardiomyopathy (XL-DCM). To investigate the molecular basis of DCM in a 37-year-old woman. Clinical and genetic investigations were performed. Genetic testing was performed with whole exome sequencing (WES) using the Illumina platform. According to the standard protocol, a variant found by WES was confirmed in all available members of the family by bi-directional capillary Sanger resequencing. The effect of the variant was investigated by using an in silico prediction of pathogenicity. The index case was a 37-year-old woman diagnosed with DCM at the age of 33. A germline heterozygous A>G transversion at nucleotide 10103 in the DMD gene, leading to an aspartic acid–glycine substitution at the amino acid 3368 of the DMD protein (c.10103A>G p.Asp3368Gly), was identified and confirmed by PCR-based Sanger sequencing of the exon 70. In silico prediction suggests that this variant could have a deleterious impact on protein structure and functionality (CADD = 30). The genetic analysis was extended to the first-degree relatives of the proband (mother, father, and sister) and because of the absence of the variant in both parents, the p.Asp3368Gly substitution was considered as occurring de novo. Then, the direct sequencing analysis of her 8-year-old son identified as hemizygous for the same variant. The young patient did not present any signs or symptoms attributable to DCM, but reported asthenia and presented with bilateral calf hypertrophy at clinical examination. Laboratory testing revealed increased levels of creatinine kinase (maximum value of 19,000 IU/L). We report an early presentation of dilated cardiomyopathy in a 33-year-old woman due to a de novo pathogenic variant of the dystrophin (DMD) gene (p.Asp3368Gly). Genetic identification of this variant allowed an early diagnosis of a skeletal muscle disease in her son.