Sudden cardiac death in the young: how can disease recognition and prevention in family members be improved?

Sudden cardiac death (SCD) in young patients (<45 years of age) is a rare event. However, it is particularly tragic as it affects active and often otherwise healthy individuals. Furthermore, SCD may unmask an underlying congenital structural disease or channelopathy. The leading cause of SCD is coronary artery disease; however, the likelihood of an underlying congenital cardiac disease is higher in young individuals. Each SCD should therefore initiate a thorough work-up of an underlying cardiac cause, which should ideally include a molecular autopsy. Familial screening should also be initiated if a physician is years later confronted with a history of SCD in a young patient. The common aim is to prompt identification of affected family members, to include the patient in regular cardiological follow-up and if indicated to initiate prophylactic therapy to prevent further SCD. This current issue on hereditary cardio(myo)pathy will cover the main topics on familial diseases. In addition the role of molecular autopsy and molecular genetic screening is discussed.

Severe hypercapnia due to pulmonary embolism of polymethylmethacrylate during vertebroplasty.

UNLABELLED: Pulmonary polymethylmethacrylate embolism is a rare but potentially fatal complication of percutaneous vertebroplasty. Clinical signs are typical for pulmonary embolism: they include respiratory distress, hypotension, and decreases in end-tidal CO(2). We report a case of fatal pulmonary polymethylmethacrylate embolism during percutaneous vertebroplasty that initially presented with hypertension (arterial blood pressure 190/90 mm Hg), normocardia, and hypercapnia (PaCO(2) 96 mm Hg), along with loss of consciousness. Several pieces of polymethylmethacrylate were found in the pulmonary vasculature at autopsy. IMPLICATIONS: Osteoporotic spine fractures are increasingly treated by injection of bone cement into the vertebral body. Polymethylmethacrylate embolism is a rare but potentially fatal complication. We report on a case of polymethylmethacrylate embolism that was at first unrecognized because of uncharacteristic signs and symptoms.