Can complex congenital heart disease (CHD) without facial features still be considered a mild case?

Complex Congenital Heart Disease Without Facial Features Can Still Be Classified as Complex CHD

Complex congenital heart disease (CHD) is defined by the anatomical abnormalities present, not by the presence or absence of facial features, and therefore can exist as a complex case even without facial dysmorphism. 1

Classification of CHD Complexity

According to the 2018 AHA/ACC guidelines, CHD is classified into three levels of complexity based solely on the cardiac anatomical abnormalities:

1. Simple CHD: Includes isolated small ASDs, VSDs, mild pulmonic stenosis, etc.
2. Moderate Complexity CHD: Includes anomalous pulmonary venous connections, coarctation of the aorta, etc.
3. Great Complexity (Complex) CHD: Includes:
   • Cyanotic congenital heart defects
   • Double-outlet ventricle
   • Fontan procedure
   • Single ventricle abnormalities
   • Pulmonary atresia
   • Transposition of the great arteries
   • Truncus arteriosus
   • Other complex abnormalities 1

Physiological Staging

In addition to anatomical classification, the AHA/ACC guidelines provide a physiological staging system (A through D) that assesses functional status:

• Stage A: NYHA FC I symptoms, no hemodynamic sequelae
• Stage B: NYHA FC II symptoms, mild hemodynamic sequelae
• Stage C: NYHA FC III symptoms, significant valvular disease, moderate ventricular dysfunction
• Stage D: NYHA FC IV symptoms, severe complications 1

Complex CHD Without Syndromic Features

• Complex CHD can occur as an isolated cardiac finding without associated facial or extracardiac manifestations
• Approximately 70% of congenital heart defects occur as isolated anomalies without being part of a recognized syndrome 2
• The absence of facial features does not change the classification of the cardiac defect itself

Clinical Implications

• The management approach for complex CHD should be based on the specific cardiac defects present, regardless of whether facial features are present
• Patients with complex CHD have better outcomes when cared for in integrated, collaborative, multidisciplinary programs 1
• Regular cardiology follow-up with appropriate imaging is recommended for all complex CHD patients 3

Important Considerations

• While the absence of facial features may rule out certain syndromes, it doesn't downgrade the complexity of the cardiac defect
• The survival rate of children born with CHD has dramatically improved from approximately 15% in the 1950s to more than 90% today 4
• Adult CHD cardiology is now encompassing patients across all age groups, including those over 60 years old 4

Diagnostic Approach

For patients with complex CHD without facial features:

• Complete cardiac evaluation including echocardiography, cardiac MRI/CT as needed
• Genetic testing may still be warranted as some genetic conditions may present with cardiac defects without obvious facial dysmorphism
• Regular monitoring for development of other manifestations over time

In conclusion, the classification of CHD as complex is based on the cardiac anatomy and physiology, not on the presence or absence of extracardiac manifestations such as facial features.