Cohort Definition Name: “Congenital Heart Disease”
Contributor name: Joel N. Swerdel
Contributor OrcId: 0000-0001-9491-2737
Logic Description: First occurrence of Congenital Heart Disease.
Recommended study application: outcome, indication
Assertion statement: This cohort definition was executed on at least one real person-level observational health data source and resulted in a cohort with at least 1 person.
Submitted cohort definition:
congenHD.txt (1.3 KB)
Target Clinical Description
Congenital heart disease (CHD) refers to a group of structural heart abnormalities that are present at birth. These defects can affect the heart’s walls, valves, blood vessels, or the overall structure of the heart. CHD is the most common birth defect, and its severity can range from mild, with minimal symptoms, to severe, requiring immediate medical intervention. Early diagnosis and appropriate management are essential to improve the long-term outcomes for individuals with CHD.
Presentation for Congenital Heart Disease:
- Cyanosis (bluish skin or lips)
- Rapid breathing or difficulty breathing
- Poor feeding and slow growth in infants
- Fatigue, especially during physical activity
- Heart murmur (an abnormal sound during a heartbeat)
- Irregular heartbeat
- Swelling of the abdomen, legs, or around the eyes (edema)
Assessment for Congenital Heart Disease:
- Echocardiography (ultrasound of the heart)
- Electrocardiogram (ECG or EKG)
- Chest X-ray
- Magnetic resonance imaging (MRI)
- Cardiac catheterization
Differential Diagnoses for Congenital Heart Disease:
- Acquired heart diseases (e.g., rheumatic heart disease)
- Arrhythmias (abnormal heart rhythms)
- Cardiomyopathy (heart muscle disease)
- Kawasaki disease
- Pericarditis (inflammation of the lining around the heart)
Treatment Plan for Congenital Heart Disease:
- Medical management (medications to manage symptoms)
- Catheter-based interventions (e.g., balloon valvuloplasty)
- Open-heart surgery for more complex defects
- Heart transplant for severe cases
- Ongoing cardiology follow-up and monitoring
Prognosis for Congenital Heart Disease: The prognosis for individuals with congenital heart disease varies widely depending on the specific defect, its severity, and the timing of diagnosis and intervention. Advances in medical and surgical treatments have significantly improved the outcomes for many patients with CHD. With appropriate care and management, most individuals with CHD can lead fulfilling lives, although they may require lifelong monitoring and treatment.