Presentation of Boerhaave's syndrome as an upper-esophageal perforation associated with a right-sided pleural effusion: A case report.

Background: Spontaneous esophageal rupture or Boerhaave's syndrome is a rare and acute disease with a high incidence of misdiagnosis and mortality. Here, we aimed to explore the clinical characteristics, diagnosis, treatment, and prognosis of spontaneous esophageal rupture, and to analyze the causes of misdiagnosis during the treatment of spontaneous esophageal rupture.

Case Summary: The clinical features of the patient with spontaneous esophageal rupture misdiagnosed earlier as pleural effusion were retrospectively analyzed and the reasons for misdiagnosis are discussed based on a current review of the literature.

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Probably Caused by DSG2 p.Val149Ile Mutation as Genetic Background When Carrying with Heterozygous PRRT2 p.Arg217ProfsTer8 Mutation: A Case Report.

Background: ARVC is a rare genetic-related disease characterized by fibrous fat replacement in the ventricular myocardium, caused by mutations in genes encoding for the desmosomal proteins, such as the desmoglein-2 gene (DSG2). It is reported in the literature that other genetic factors may play a role in disease penetrance. Herein, we report a Chinese proband with ARVC, which was probably caused by DSG2 p.