What is the management plan for a patient with a history of congenital heart disease (CHD) where no surgical repair has been done and a recent 2-dimensional (2D) echocardiogram (echo) is normal?

Management of Unrepaired Congenital Heart Disease with Normal 2D Echocardiogram

If a patient with congenital heart disease has never undergone surgical repair but has a normal 2D echocardiogram, they should be classified as having simple CHD (Type I, Physiological Stage A) and require periodic surveillance with an ACHD cardiologist, typically annually, with no regular medication needed in the absence of specific problems. 1, 2

Classification and Risk Stratification

The anatomic-physiological (AP) classification system determines management intensity based on both the underlying cardiac anatomy and current physiological status 1, 2:

Anatomic Classification

• Simple CHD (Type I): Isolated small ASD, isolated small VSD, or mild isolated pulmonic stenosis that has never required repair 1, 2
• These lesions with normal echocardiographic findings indicate no hemodynamic sequelae 1

Physiological Stage A Criteria

A normal 2D echo in an unrepaired patient suggests Physiological Stage A, characterized by 1, 2:

• NYHA functional class I (asymptomatic)
• No hemodynamic or anatomic sequelae
• No arrhythmias
• Normal exercise capacity
• Normal renal/hepatic/pulmonary function

Surveillance Strategy

Follow-Up Frequency

• Annual evaluation with a cardiologist who has expertise in adult congenital heart disease (ACHD) is recommended 1, 2
• The frequency may be adjusted based on the specific lesion type and any emerging clinical concerns 1

Imaging Protocol

• 2D and Doppler echocardiography should be performed by staff trained in imaging complex congenital heart defects 1, 3, 4
• Serial observation should assess for development of hemodynamic changes, valve dysfunction, or chamber enlargement 1, 3
• 3D echocardiography provides complementary information for better spatial delineation and volumetric assessment without geometric assumptions 3

Additional Monitoring

• Periodic 24-hour ambulatory monitoring should be performed to assess for rhythm abnormalities, as arrhythmias can develop even in simple lesions 1
• Exercise testing may be used to objectively assess functional capacity and detect subclinical limitations 1, 2

Medical Management

Medication Requirements

Most patients need no regular medication in the absence of specific problems 1. This is a critical point—the normal echocardiogram indicates no current hemodynamic burden requiring pharmacotherapy.

When to Escalate Treatment

Medical therapy becomes indicated only if specific complications develop 1, 2:

• ACE inhibitors and/or diuretics for symptoms of chronic heart failure
• Antiarrhythmic therapy if rhythm disturbances emerge
• Pulmonary vasodilators only if pulmonary arterial hypertension develops

Endocarditis Prophylaxis

Antibiotic prophylaxis before dental procedures is NOT routinely indicated for unrepaired simple CHD with normal hemodynamics 1.

Prophylaxis is reasonable only for the highest-risk conditions 1:

• Prosthetic cardiac valve or prosthetic material
• Previous infective endocarditis
• Unrepaired and palliated cyanotic CHD (not applicable if echo is normal)
• Completely repaired CHD with prosthetic materials during the first 6 months post-procedure

Critical Caveats and Pitfalls

Avoid Complacency

• A normal echocardiogram today does not guarantee future stability—lesions can progress over time 5, 6
• Failure to maintain regular follow-up is a common pitfall, with many adults lost to surveillance despite childhood diagnoses 6

Specific Red Flags Requiring Reassessment

Watch for development of 1, 2:

• New cardiac murmurs (may indicate progressive valve disease or developing shunts)
• Exercise intolerance or dyspnea (may precede echocardiographic changes)
• Arrhythmias (may indicate emerging hemodynamic stress)
• Signs of pulmonary hypertension (cyanosis, elevated jugular venous pressure)

Transition of Care Issues

• Patients transitioning from pediatric to adult care are at highest risk for loss to follow-up 6
• Establishing care with an ACHD specialist (not general cardiologist) is essential for optimal outcomes 1, 2, 5

Pregnancy Considerations

• Women with unrepaired CHD should be evaluated before conception to ensure no significant hemodynamic lesions that might complicate pregnancy management 1
• Even simple lesions require preconception counseling and monitoring during pregnancy 1

Specialized ACHD Program Requirements

Patients should receive care within specialized ACHD programs that provide 1, 2:

• Echocardiography with CHD expertise (including transesophageal and intraoperative capabilities)
• CHD-specific diagnostic and interventional catheterization
• Electrophysiology services with CHD experience
• Advanced cardiac imaging (cardiac MRI, cardiac CT)
• Multidisciplinary team including cardiac anesthesiologists with CHD training

This integrated approach yields better outcomes than general cardiology care, even for patients with currently normal hemodynamics 1, 2, 5.