Sudden deaths without apparent cause present a significant challenge, claiming between four to five million lives globally each year. While many cases stem from hidden heart issues, some remain elusive to traditional post-mortem examinations, resulting in what experts term “blank autopsies.”
In the United States alone, around 600,000 people succumb to sudden death annually, while the European Union reports nearly 250,000 cases yearly. While heart problems constitute the majority, other factors such as hidden overdoses, neurological failures, or infections contribute to a significant portion of sudden deaths.
To unravel the mysteries behind these fatalities, forensic medicine has embraced new tools, notably genetic autopsies. Molecular analysis of the deceased helps detect gene mutations linked to various heart diseases, revealing potential causes of sudden death. Eneko Barbería, director of the Institute of Legal Medicine and Forensic Science of Catalonia, emphasizes the pivotal role of genetic autopsies, which unveil the underlying pathologies and aid in preventing future sudden deaths among relatives susceptible to the same genetic mutations.
Ester Costafreda and Ángel Quemada’s son fell victim to sudden death at the age of 15, prompting his parents to delve into the realm of hereditary heart disease. Post-mortem studies unveiled arrhythmogenic cardiomyopathy, a genetic condition predisposing individuals to sudden death. The family’s proactive approach led to cardiac and genetic screenings, revealing another relative afflicted by the same ailment. Swift action, including the implantation of an automatic defibrillator, averted potential tragedy for the family.
Costafreda, now the manager of the Association of Arrhythmic Syndromes Related to Sudden Death (SAMS), emphasizes the urgency of addressing hereditary heart conditions. The family’s ordeal underscores the importance of timely screenings and interventions to mitigate the risk of sudden death among at-risk relatives.
In essence, genetic autopsies offer insights into hereditary heart diseases, empowering families to safeguard against sudden tragedies and advocate for preventative measures within their communities.
