From the Guidelines
The daughter of a man with Sudden Cardiac Death due to idiopathic Left Ventricular hypertrophy should undergo comprehensive cardiac surveillance, including an initial evaluation with electrocardiogram (ECG), echocardiography, and genetic testing, followed by regular cardiac monitoring every 1-2 years, as recommended by the 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline for the management of hypertrophic cardiomyopathy 1.
Key Components of Surveillance
- Initial evaluation with ECG, echocardiography, and genetic testing to identify potential cardiac abnormalities and hereditary components
- Regular cardiac monitoring every 1-2 years, even if the initial evaluation is normal, to detect any developing cardiac abnormalities
- Additional testing, such as exercise stress testing, 24-hour Holter monitoring, and cardiac MRI, depending on symptoms and initial findings
- Genetic testing to identify specific mutations and guide targeted surveillance
Importance of Genetic Testing
- Many causes of LV hypertrophy have a hereditary component, with conditions like hypertrophic cardiomyopathy having a 50% inheritance risk for first-degree relatives 1
- Genetic testing can help identify specific mutations and guide targeted surveillance
- Family members who test negative for an identified mutation may not need ongoing surveillance
Goal of Surveillance
- Early detection of any developing cardiac abnormalities, allowing for timely intervention with medications, lifestyle modifications, or consideration of implantable cardioverter-defibrillators in high-risk cases to prevent sudden cardiac death
- Prevention of sudden cardiac death and improvement of quality of life through early detection and intervention
Frequency of Screening
- The frequency of screening can be lowered in individuals who are >18 years of age, as disease penetrance is lower in this age group 1
- However, continued screening into adulthood is warranted, as phenotype conversion can occur in young adults
Additional Considerations
- Decisions about participation in competitive sports should be made jointly with the patient and family, taking into consideration family history of SCD, type of sports activity, and patient and family risk tolerance 1
- ICDs are not offered for primary prevention in genotype-positive, phenotype-negative individuals, given the low risk of SCD 1
From the Research
Surveillance for the Daughter of a Man with SCD due to Idiopathic LV Hypertrophy
The daughter of a man with Sudden Cardiac Death (SCD) due to idiopathic Left Ventricular (LV) hypertrophy may be at risk of developing similar cardiac conditions. The following surveillance measures can be considered:
- Cardiac evaluation, including electrocardiogram (ECG) and echocardiogram, to assess LV function and geometry 2, 3
- Assessment of LV hypertrophy and its etiology, using cardiac MRI (CMR) if necessary, to determine the severity and distribution of hypertrophy, evaluate ventricular function, and characterize tissue 3
- Evaluation of risk factors for SCD, including family history, LV function, and presence of other cardiac conditions, such as hypertrophic cardiomyopathy (HCM) 2, 4
- Consideration of genetic testing, if the family history suggests a heritable condition, such as HCM 4
- Regular follow-up with a cardiologist to monitor cardiac function and adjust surveillance and treatment as needed 2, 5
Risk Stratification and Management
The daughter's risk of developing cardiac conditions, such as LV hypertrophy and SCD, should be stratified based on her individual risk factors, including:
- Family history of SCD and cardiac conditions 2, 4
- Presence of LV hypertrophy or other cardiac conditions 2, 3
- Results of cardiac evaluation and genetic testing, if performed 4, 3
- Management of modifiable risk factors, such as hypertension and lifestyle changes, to reduce the risk of cardiovascular events and mortality 5