From the Guidelines
The daughter of a person with Sudden Cardiac Death (SCD) should undergo genetic testing and cardiovascular evaluation, including an ECG, exercise stress test, and echocardiogram, to identify potential inherited cardiac diseases 1.
Indications for Testing
- The American Heart Association recommends genetic testing for first-degree relatives of SCD victims, particularly if the autopsy findings suggest an inherited cardiomyopathy 1.
- The American Academy of Pediatrics recommends screening for SCA and SCD in all children, including those with a family history of sudden death or inherited heart disease 1.
- The initial battery of tests for first-degree relatives usually includes a visit to a pediatric cardiologist or electrophysiologist, an ECG, an exercise stress test (if old enough to exercise), and an echocardiogram 1.
Importance of Genetic Testing
- Genetic testing can identify disease-causing variants associated with sudden arrhythmic deaths, such as long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and arrhythmogenic right ventricular cardiomyopathy 1.
- Cascade molecular and clinical screening of family members is indicated if a disease-causing variant is identified in the victim 1.
Key Considerations
- The molecular autopsy is particularly useful for detecting inherited cardiac diseases in decedents with limited structural disease 1.
- Advances in cardiovascular genetics have added both molecular insight and new levels of complexity and ambiguity to our understanding of affected families 1.
From the Research
Testing Indicated for the Daughter of a Person with Sudden Cardiac Death (SCD)
The following testing is indicated for the daughter of a person with SCD:
- Clinical evaluation, including a thorough medical history and physical examination 2, 3
- Genetic testing, including molecular autopsy, to identify potential genetic causes of SCD 2, 4, 3
- Cardiac evaluation, including electrocardiogram (ECG) and echocardiogram, to assess cardiac structure and function 2, 3
- Family screening, including evaluation of first-degree relatives, to identify potential carriers of genetic mutations associated with SCD 5, 6, 3
Importance of Genetic Testing and Counseling
Genetic testing and counseling are crucial in identifying potential genetic causes of SCD and providing guidance for family members who may be at risk 2, 4, 3
- Genetic testing can identify mutations associated with inherited cardiac diseases, such as long QT syndromes and hypertrophic cardiomyopathy 2, 4
- Genetic counseling can provide information on the risk of developing SCD and guide decision-making regarding preventive measures and treatment 5, 4
Role of Molecular Autopsy
Molecular autopsy can play an important role in identifying the cause of SCD, particularly in cases where no cause is identified at postmortem 2, 3