What is the prognosis and recommended management for a neonate with Goldenhar syndrome and cardiac defects?

Goldenhar Syndrome with Cardiac Defects: Prognosis and Management

Neonates with Goldenhar syndrome and cardiac defects have a generally favorable prognosis when cardiac anomalies are surgically corrected early, with outcomes primarily determined by the severity and complexity of the cardiac lesions rather than the syndrome itself. 1, 2

Cardiac Defects in Goldenhar Syndrome

The cardiovascular malformations in Goldenhar syndrome occur in 5-58% of cases and include a wide spectrum of anomalies 3:

• Patent ductus arteriosus (PDA) is commonly reported 1
• Ventricular septal defects (VSDs) occur frequently, ranging from single to multiple defects 2, 4
• Interrupted aortic arch (type B) represents a severe conotruncal anomaly requiring urgent surgical intervention 2
• Vascular anomalies including double aortic arch, aberrant subclavian arteries, and extensive arterial malformations have been documented 5
• Coronary artery dilation and peripheral arterial narrowing may occur 5

Immediate Neonatal Management

Cardiac Evaluation and Stabilization

• Comprehensive echocardiography must be performed immediately at diagnosis to define all cardiac anatomy, including VSDs, PDAs, outflow tract obstruction, and aortic arch anatomy 1, 2
• Prostaglandin E1 (PGE1) infusion should be initiated emergently if ductal-dependent lesions such as interrupted aortic arch are identified, as these require admixture of blood for survival 6
• Cardiac CT angiography or MRI may be necessary to fully delineate complex vascular anomalies, particularly aortic arch abnormalities and coronary artery anatomy 5

Genetic Testing

• 22q11.2 deletion testing is mandatory for all neonates with interrupted aortic arch type B, as this is strongly associated with DiGeorge syndrome and has major implications for immune function, calcium homeostasis, and genetic counseling 6, 7
• The American Heart Association recommends this testing regardless of presence of extracardiac features 7

Airway Assessment

• Fiberoptic intubation equipment must be immediately available, as Goldenhar syndrome presents with microcephaly, micrognathia, facial asymmetry, and cervical spine abnormalities that create an anticipated difficult airway 2
• Cervical spine imaging is essential before any airway manipulation, as cervical scoliosis and potential instability are common 2
• Anesthetic management requires specialized techniques to maintain hemodynamic stability during airway securing in the setting of cardiac disease 2

Surgical Timing and Approach

Cardiac Surgery Indications

• Interrupted aortic arch requires urgent neonatal surgical repair, typically within the first week of life 2
• Multiple VSDs with hemodynamic significance require surgical closure, often performed concurrently with aortic arch repair 2
• PDA in the setting of other cardiac defects typically requires surgical ligation rather than medical closure 1

Perioperative Considerations

• Multidisciplinary team including pediatric cardiac surgery, cardiac anesthesia, and genetics must coordinate care 1, 2
• Prolonged hospitalization (postoperative length of stay >2 weeks) is associated with poorer neurodevelopmental outcomes and should be minimized when possible 8
• ECMO or VAD use increases risk for developmental disorders if required 8

Long-Term Prognosis

Cardiac Outcomes

• Prognosis is good following successful cardiac repair, with normal life expectancy possible if no significant hemodynamic residua remain 1
• Annual follow-up with a cardiologist experienced in congenital heart disease is required for all patients with repaired cardiac defects 6
• Endocarditis prophylaxis is indicated for all patients with cardiac defects, both before and after repair 6

Neurodevelopmental Outcomes

• Genetic syndromes or chromosomal abnormalities (found in up to 30% of pediatric patients with congenital heart disease) significantly impact neurodevelopmental outcomes 8
• Prematurity (this patient at 32-34 weeks) compounds neurodevelopmental risk, as premature infants with congenital heart disease face heightened risk for developmental delay 9, 8
• Regular neurodevelopmental surveillance and early intervention services should be initiated for all patients with complex congenital heart disease 8
• Corrected age should be used for developmental milestone assessment for at least the first 24 months of life 9

Multisystem Surveillance

• Renal ultrasound should be performed, as bilateral hydronephrosis has been documented in Goldenhar syndrome 1
• Ophthalmologic evaluation including red reflex testing and assessment of ocular structures is essential 9
• Audiology assessment with brainstem auditory evoked potential response is required given ear malformations 9
• Periodic evaluation every 6 months is recommended to monitor growth and development 1

Critical Pitfalls to Avoid

• Do not delay cardiac surgery for interrupted aortic arch, as this is a ductal-dependent lesion with high mortality without intervention 6, 2
• Do not assume isolated cardiac findings—always screen for 22q11.2 deletion given the association with interrupted aortic arch type B 6, 7
• Do not overlook airway management complexity—cervical spine instability and craniofacial abnormalities require specialized anesthetic techniques 2
• Do not use chronological age for developmental assessments in premature infants—correct for gestational age through at least 24 months 9