Introduction
Some cardiovascular diseases are caused by genetic changes, meaning they are inherited or result from mutations in specific genes. These conditions can affect the heart’s structure, rhythm, or function and may increase the risk of heart disease, arrhythmias, or sudden cardiac events. Early recognition, family screening, and specialized care are important for managing these inherited heart conditions.
Causes
Genetic cardiovascular diseases are caused by mutations in genes that control the development and function of the heart and blood vessels. These mutations can be inherited from one or both parents or occur spontaneously. Common examples include hypertrophic cardiomyopathy, dilated cardiomyopathy, congenital long QT syndrome, familial hypercholesterolemia, and certain congenital heart defects. Family history is a key risk factor.
Symptoms
Symptoms vary depending on the specific condition but may include chest pain, shortness of breath, palpitations, fainting, fatigue, or swelling in the legs. Some people may have no symptoms until a serious event, such as a heart attack or sudden cardiac arrest, occurs. In children, symptoms may include poor growth, feeding difficulties, or developmental delays.
Diagnosis
Diagnosis involves a combination of medical and family history, physical examination, and specialized tests such as electrocardiogram (ECG), echocardiogram, genetic testing, and sometimes cardiac MRI. Family members may also be offered screening if a genetic heart condition is identified. If you have a family history of heart disease or unexplained symptoms, consult a doctor or genetic counselor for evaluation.
Treatment Options
Treatment depends on the specific genetic condition and its severity. Options may include medications to control symptoms or reduce risk, lifestyle changes, and regular monitoring. In some cases, devices such as pacemakers or implantable cardioverter-defibrillators (ICDs) may be needed to prevent dangerous heart rhythms. Surgery or other interventions may be required for structural heart problems.
Simple measures such as maintaining a heart-healthy lifestyle, attending regular check-ups, and informing healthcare providers about your family history can help manage risk. If you or a family member experience new or worsening symptoms, consult a doctor promptly.
Prevention
While genetic changes cannot be prevented, early diagnosis, family screening, and appropriate management can reduce the risk of complications. Genetic counseling can help families understand their risk and make informed decisions about testing and care.
Takeaway
Cardiovascular diseases due to genetic changes require specialized care and ongoing monitoring. With early recognition, family screening, and proper management, many people can lead healthy, active lives. If you have a family history of heart disease or unexplained symptoms, consult a doctor or genetic counselor for assessment and support.