What are the management and treatment options for cardiovascular involvement in a neonate with Goldenhar syndrome?

Cardiovascular Involvement in Goldenhar Syndrome

Neonates with Goldenhar syndrome require immediate comprehensive cardiac evaluation with echocardiography and ECG at diagnosis, as ventricular septal defects (VSD) are the most commonly reported cardiac anomaly, though extensive vascular malformations including aortic arch abnormalities, coronary artery dilation, and peripheral arterial stenoses can occur. 1, 2, 3

Initial Cardiac Assessment

All neonates diagnosed with Goldenhar syndrome should undergo:

• Echocardiography within the first days of life to identify structural cardiac defects, particularly VSD, which has been documented in multiple case reports 2, 3
• 12-lead electrocardiography to establish baseline cardiac rhythm and identify conduction abnormalities 4
• Four-limb blood pressure measurements to screen for coarctation or peripheral arterial stenoses 1
• Cardiac CT angiography if initial echocardiography suggests vascular anomalies such as double aortic arch, aberrant subclavian arteries, or coronary artery abnormalities 1

The cardiovascular manifestations in Goldenhar syndrome are highly variable and not well-defined in the literature, ranging from simple septal defects to complex vascular malformations involving the aortic arch, coronary arteries, and peripheral vasculature 1, 4.

Specific Cardiac Abnormalities to Screen For

Structural cardiac defects:

• Ventricular septal defects (most common) 2, 3
• Atrial septal defects 4
• Tetralogy of Fallot 4

Vascular anomalies:

• Double aortic arch or right-sided aortic arch 1
• Aberrant subclavian arteries with stenosis 1
• Coronary artery dilation (can mimic Kawasaki disease or vasculitis) 1
• Aortic narrowing below renal arteries extending to iliac and femoral arteries 1
• Main pulmonary artery dilation 1

Management Strategy

For hemodynamically significant VSDs or other structural defects:

• Refer immediately to pediatric cardiology and cardiac surgery for timing of intervention 2
• Monitor for signs of congestive heart failure including tachypnea, poor feeding, and failure to thrive 2
• Consider early surgical correction if heart failure symptoms develop despite medical management 2

For vascular malformations:

• Serial echocardiographic monitoring every 3-6 months to assess progression of coronary or great vessel abnormalities 1
• Avoid misdiagnosis as vasculitis—the vascular narrowings in Goldenhar syndrome are congenital malformations, not inflammatory, and do not respond to immunosuppressive therapy 1
• Cardiac CT angiography provides superior delineation of complex vascular anatomy compared to echocardiography alone 1

Anesthetic Considerations

Before any surgical procedure (cardiac or non-cardiac):

• Complete cardiac evaluation must be performed within 3-6 months of planned anesthesia 5
• Anesthesia should be administered by an anesthesiologist experienced in congenital heart disease 5, 4
• Procedures should occur in centers with appropriate pediatric intensive care facilities 5
• Premature neonates with Goldenhar syndrome have additional metabolic vulnerabilities requiring careful drug dosing 4

The combination of airway abnormalities (from craniofacial malformations) and cardiac defects creates compounded anesthetic risk in these patients 4.

Ongoing Surveillance

Establish a monitoring protocol:

• Echocardiography every 6-12 months during infancy and early childhood to detect progressive lesions 1, 2
• Annual ECG to monitor for arrhythmias or conduction abnormalities 4
• Blood pressure monitoring at each clinical visit with attention to differential pressures between limbs 1

Multidisciplinary coordination is essential involving pediatric cardiology, cardiac surgery, genetics, and the primary pediatrician to ensure comprehensive care 2. The American Heart Association recommends that cardiac status be evaluated to identify life-threatening cardiovascular malformations, especially critical in the first year of life 6.

Critical Pitfalls to Avoid

• Do not assume cardiac involvement is absent based on normal initial examination—vascular anomalies may not be clinically apparent until respiratory distress develops 1
• Do not attribute coronary artery dilation to Kawasaki disease or vasculitis without excluding congenital vascular malformations first, as this can lead to inappropriate immunosuppressive therapy 1
• Do not proceed with elective surgery without recent cardiac evaluation, as undiagnosed cardiac lesions significantly increase perioperative mortality 5, 4
• Do not delay cardiac imaging if respiratory symptoms persist despite appropriate respiratory interventions, as this may indicate vascular compression from aortic arch anomalies 1