A Rare Cause of Dyspnoea: Right-sided Bochdalek Hernia in an Adult.

Unlabelled: Right-sided Bochdalek hernia (BH) is very rarely diagnosed in adults. It commonly presents with gastrointestinal symptoms (pain, abdominal distension and vomiting). Breathlessness, recurrent chest infections and other pulmonary sequelae can also be present.

Post mortem genetic test, the clinical diagnosis is not fade with the death of the patient.

In up to one-third of cases of sudden death, the medico-legal autopsy finding is inconclusive, and the option to perform a molecular autopsy is covered in international guidelines. The importance of postmortem genetic testing lies in its ability to identify hereditary diseases, often those with an autosomal dominant transmission pattern, and, through consultations and screening of relatives, to identify family members with a pathogenic mutation, who are often asymptomatic, providing an opportunity to change the course of their lives. The authors present three clinical cases that highlight the importance of postmortem genetic studies and family studies, as well as the integration of the data obtained in a cardiology consultation, which may be for arrhythmology, coronary disease or cardiomyopathy, depending on the specific condition.

Importance of cardiac implantable eletronic devices in the diagnosis of Sleep Apnea Syndrome.

Introduction: Sleep Apnea Syndrome (SAS) is a prevalent respiratory disease with marked expression in the population with cardiovascular disease. The diagnosis is based on polysomnography. In patients with cardiac implantable electronic devices (CIED), the prevalence of SAS may reach 60%.