法医学ジャーナル

Sudden cardiac death (SCD) refers to an unexpected death due to a sudden loss of heart function, typically occurring within an hour of the onset of symptoms. It's often caused by an arrhythmia, such as ventricular fibrillation or ventricular tachycardia, where the heart's electrical system malfunctions, leading to ineffective pumping of blood. This article explores various genetic testing strategies employed in USCD cases, including targeted gene sequencing, next-generation sequencing panels and whole exome sequencing. We discuss the challenges and limitations of genetic testing, such as variant interpretation and genetic counseling and highlight the importance of multidisciplinary collaboration in managing USCD cases. By leveraging advancements in genetic technology and adopting comprehensive testing approaches, clinicians can enhance diagnostic accuracy and offer tailored interventions to prevent further tragedies.