Preventive Cardiology and Cardiovascular Genetics
Prevention and genetics
Preventive cardiology in children includes primordial prevention of obesity and hypertension, lipid screening in high-risk families, tobacco avoidance, and physical activity promotion. Cardiovascular genetics identifies inherited conditions such as familial hypercholesterolemia, hypertrophic cardiomyopathy, long QT syndrome, Marfan syndrome, and Loeys-Dietz syndrome. Cascade screening of first-degree relatives can detect disease before catastrophic events. Genetic testing should be interpreted with genetic counseling; a variant of uncertain significance is not automatically pathogenic. Preventive counseling also addresses Kawasaki coronary disease, rheumatic fever prophylaxis, and endocarditis prophylaxis in selected lesions.
Traps
Do not restrict all children with a genetic diagnosis from exercise; recommendations are condition-specific. Marfan syndrome requires aortic root surveillance, but a normal echocardiogram does not exclude the diagnosis. Family history may be incomplete because of early deaths or limited contact. A pathogenic variant does not determine phenotype alone; environment and modifiers matter.
Worked example
A 14-year-old has a family history of sudden death, a systolic murmur, and an ECG with deep T-wave inversions. Evaluate for hypertrophic cardiomyopathy with echocardiography, ECG, and genetic counseling; screen first-degree relatives. Rule of thumb: when a heritable cardiovascular disease is suspected, screen the family, not just the patient.