Synchronous occurrence of IgG4-related sialadenitis and ductal carcinoma of the parotid gland a case report

Immunoglobulin G4-related disease (IgG4-RD) is a rare chronic systemic inflammatory pathology that poses a diagnostic challenge since it can simulate malignancy when it affects a salivary gland as a mass-like lesion. Here, the authors report an unusual clinical case of a 42-year-old man who presented with a painless, slow-growing swelling located in the right parotid gland with a 12-month evolution. Based on imaging tests and open biopsy, a diagnosis of chronic parotitis was presumed and oral methylprednisolone was prescribed. Due to poor response to medication, a total parotidectomy preserving the facial nerve was performed. The final pathology described a unilateral IgG4-related sialadenitis (IgG4-RS) in the parotid gland in combination with a poorly differentiated multifocal ductal carcinoma. The postoperative course was uneventful except for a temporary facial paresis (grade III according to the House-Brackmann classification system) that resolved completely within 5 months. There were no systemic manifestations on the whole-body 18F-FDG PET/CT. Adjuvant radiotherapy was administered without complications. Twenty-four months follow-up after surgery showed no recurrence or evidence of systemic involvement. This clinical report highlights the importance of considering the synchronous occurrence of a carcinoma underlying an isolated parotid gland mass in the context of IgG4-RS, especially if there is no response to prior steroid medication

Seudoaneurisma ventricular izquierdo tras un infarto de miocardio

Left ventricular pseudoaneurysm is a serious but rare mechanical complication of an acute myocardial infarction. The rupture of the ventricular free wall is contained by the adjacent pericardium. It requires a high degree of suspicion because usually the patient has no symptoms. Therapeutic options are repairing surgery or conservative treatment, having to assess the pros and cons of both options. We present the case of a 72-year-old man who consulted for increasing dyspnea and orthopnea since two weeks. Primary angioplasty was performed 3 months earlier due to an acute lateral myocardial infarction. He was diagnosed with a large left ventricular pseudoaneurysm that also affected the posterior papillary muscle, causing severe mitral regurgitation. Surgery to repair the pseudoaneurysm was performed and a mitral biological prosthesis was implanted with a favorable postoperative evolution.El seudoaneurisma ventricular izquierdo es una complicación mecánica grave, aunque infrecuente del infarto agudo de miocardio en la que la rotura de la pared libre ventricular es contenida por el pericardio adyacente. Requiere un alto grado de sospecha, ya que, a diferencia de la rotura cardíaca aguda, es frecuente que curse de forma asintomática. El tratamiento consiste habitualmente en una cirugía de reparación o el manejo conservador, debiendo valorar pros y contras de las dos opciones. Presentamos el caso de un varón de 72 años que consulta por disnea y ortopnea en aumento desde hace dos semanas. Se realizó una angioplastia primaria tres meses antes por un infarto agudo de miocardio lateral. Es diagnosticado de un seudoaneurisma del ventrículo izquierdo de gran tamaño que afecta también el músculo papilar posterior condicionando una insuficiencia mitral severa. Se realiza una cirugía de reparación del seudoaneurisma y se implanta una prótesis biológica mitral con una evolución posoperatoria favorable

Identification of an Elusive Spliceogenic MYBPC3 Variant in an Otherwise Genotype-Negative Hypertrophic Cardiomyopathy Pedigree

Case report[Abstract] The finding of a genotype-negative hypertrophic cardiomyopathy (HCM) pedigree with several affected members indicating a familial origin of the disease has driven this study to discover causative gene variants. Genetic testing of the proband and subsequent family screening revealed the presence of a rare variant in the MYBPC3 gene, c.3331-26T>G in intron 30, with evidence supporting cosegregation with the disease in the family. An analysis of potential splice-altering activity using several splicing algorithms consistently yielded low scores. Minigene expression analysis at the mRNA and protein levels revealed that c.3331-26T>G is a spliceogenic variant with major splice-altering activity leading to undetectable levels of properly spliced transcripts or the corresponding protein. Minigene and patient mRNA analyses indicated that this variant induces complete and partial retention of intron 30, which was expected to lead to haploinsufficiency in carrier patients. As most spliceogenic MYBPC3 variants, c.3331-26T>G appears to be non-recurrent, since it was identified in only two additional unrelated probands in our large HCM cohort. In fact, the frequency analysis of 46 known splice-altering MYBPC3 intronic nucleotide substitutions in our HCM cohort revealed 9 recurrent and 16 non-recurrent variants present in a few probands (≤ 4), while 21 were not detected. The identification of non-recurrent elusive MYBPC3 spliceogenic variants that escape detection by in silico algorithms represents a challenge for genetic diagnosis of HCM and contributes to solving a fraction of genotype-negative HCM cases.This article was funded by Secretaria Xeral de Investigación e Desenvolvemento, Xunta de Galicia, GRC ED431C 2018/38. Open access funding provided by Health in CodeXunta de Galicia; ED431C 2018/3