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Published on: June 11, 2019
Can sudden cardiac death in the young be predicted and prevented? Lessons from autopsy for the emergency physician
Jennifer L White1, Anna Marie Chang2, Sergi Cesar3
1Department of Emergency Medicine; Mayo Clinic College of Medicine, Rochester, Minnesota, EE.UU.
Insights
Sudden cardiac death (SCD) in the young is rare but devastating. Identifying inherited causes is crucial for preventing SCD and avoiding inconclusive autopsies in young individuals.
Area of Science:
- Cardiology
- Genetics
- Forensic Pathology
Background:
- Sudden unexpected death in the young (SUDY) is a rare but significant cause of mortality.
- Autopsies for SUDY are often inconclusive, leaving families without answers.
- Many SUDY cases stem from inherited cardiac conditions, highlighting the need for genetic insights.
Purpose of the Study:
- To review the causes of sudden cardiac death (SCD) in young individuals.
- To differentiate between autopsy-positive and autopsy-negative SCD.
- To explore the role of inherited arrhythmogenic conditions in SCD and discuss predictive/preventive strategies.
Main Methods:
- Literature review of autopsy findings in young SCD cases.
- Categorization of SCD causes based on autopsy results (positive vs. negative).
- Analysis of inherited cardiac conditions associated with SCD.
Main Results:
- Autopsy-positive SCD in the young is linked to conditions like hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia.
- Autopsy-negative SCD is frequently associated with inherited arrhythmogenic disorders, including Long QT syndrome, Brugada syndrome, and others.
- A significant portion of SCD in the young has an inherited basis.
Conclusions:
- Understanding inherited arrhythmogenic causes is key to diagnosing and managing SCD in the young.
- Predictive and preventive strategies are essential to reduce SCD incidence and the need for autopsies.
- Genetic counseling and screening are vital for families affected by SCD.
Objectives:
Sudden unexpected death in the young, though rare, is devastating for both the family and the community. Although only 1.3 to 8.5 cases of sudden cardiac death (SCD) occur per 100 000 young people, autopsy is often inconclusive. Many causes of SCD are related to autosomal dominant inherited risk, however; therefore, answers are important for survivors. Causes of autopsy-positive SCD in young patients include hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia. Autopsy-negative SCD has been related to inherited arrhythmogenic causes such as long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, Wolff- Parkinson-White syndrome, and idiopathic ventricular fibrillation. The important question for the emergency physician is how SCD can be predicted and prevented in the young so that there is no need for an autopsy.
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