Aims Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a life-threatening entity with a highly heterogeneous genetic background. Cardiac magnetic resonance (CMR) imaging can identify fibrofatty scar by late gadolinium enhancement (LGE). Our aim is to investigate genotype–phenotype correlation in ARVC/D mutation carriers, focusing on CMR-LGE and myocardial fibrosis patterns. Methods and results A cohort of 44 genotyped patients, 33 with definite and 11 with borderline ARVC/D diagnosis, was characterized using CMR and divided into groups according to their genetic condition (desmosomal, non-desmosomal mutation, or negative). We collected information on cardiac volumes and function, as well as LGE pattern and extension. In addition, available ventricular myocardium samples from patients with pathogenic gene mutations were histopathologically analysed. Half of the patients were women, with a mean age of 41.6 ± 17.5 years. Next-generation sequencing identified a potential pathogenic mutation in 71.4% of the probands. The phenotype varied according to genetic status, with non-desmosomal male patients showing lower left ventricular (LV) systolic function. LV fibrosis was similar between groups, but distribution in non-desmosomal patients was frequently located at the posterolateral LV wall; a characteristic LV subepicardial circumferential LGE pattern was significantly associated with ARVC/D caused by desmin mutation. Histological analysis showed increased fibrillar connective tissue and intercellular space in all the samples. Conclusion Desmosomal and non-desmosomal mutation carriers showed different morphofunctional features but similar LV LGE presence. DES mutation carriers can be identified by a specific and extensive LV subepicardial circumferential LGE pattern. Further studies should investigate the specificity of LGE in ARVC/D.

Introduction: There is no consensus on the management of the coronavirus disease (COVID-19) in patients with secondary immunosuppression due to either an underlying haematological disease or to the effects of immunochemotherapy (ICT). Some of them may present persistent infection with multiple relapses of the COVID-19, requiring several admissions. This study evaluated the clinical characteristics and outcomes after treatment of five patients with follicular lymphoma (FL), previously treated with ICT, who developed several episodes of COVID-19. Methods: We analyzed the clinical evolution and response to treatment with antiviral agent, steroids and convalescent plasma in five patients with FL and SARS-CoV-2 persistent infection. Reverse-transcriptase-polymerase-chain-reaction (RT-PCR) tests and peripheral blood immunophenotype were performed for all patients. Results: All patients required hospitalization due to pneumonia with severity criteria and were re-admitted after a median of 22 days (13-42) from the previous discharge. They all showed B-cell depletion by immunophenotyping and no traces of immunoglobulin (IgG) antibodies against SARS-CoV-2 were detected in any of the cases. The survival rate was 80%. Conclusion: The combination therapy evidenced clinical benefits, demonstrating its capacity to control infection in immunosuppressed follicular lymphoma patients treated with ICT.

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Rectorragia: una presentación clínica infrecuente de cordoma sacro Resumen Los cordomas constituyen los tumores primarios malignos más frecuentes del sacro. Suelen producir una clínica inespecífica e insidiosa, lo que puede conllevar un retraso diagnóstico de años. La compresión de estructuras locales produce dolor lumbar y de cadera, estreñimiento y retención urinaria. La infiltración del recto es infrecuente, suele ser tardía e implica enfermedad avanzada. Las pruebas de imagen del área sacra resultan esenciales en el estudio de estos tumores, aunque la biopsia es necesaria para confirmar el diagnóstico. Presentamos el caso clínico de un paciente que acude a Urgencias refiriendo rectorragia de larga data junto con estreñimiento, dolor lumbar y de cadera, con diagnóstico final de cordoma sacro.

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