Is Dandy Walker syndrome associated with cardiac anomalies?

Dandy-Walker Syndrome and Cardiac Anomalies

Direct Answer

Yes, Dandy-Walker syndrome is significantly associated with cardiac anomalies, with cardiac defects occurring in approximately 40% of cases, making cardiac evaluation essential at diagnosis. 1, 2

Prevalence and Types of Cardiac Anomalies

Cardiac anomalies represent one of the most common extracranial manifestations associated with Dandy-Walker malformation (DWM). The evidence demonstrates:

• Cardiac defects occur in 41.7% of pediatric patients with Dandy-Walker variant, making them the most frequently associated extracranial anomaly 2
• Approximately 80% of children with Dandy-Walker syndrome have associated anomalies, with cardiac defects being prominent among these 3
• The types of cardiac defects typically involve septal abnormalities, suggesting an early embryonic insult occurring before 6 weeks' gestational age 4

Specific Cardiac Manifestations

The cardiac anomalies associated with Dandy-Walker syndrome include:

• Ventricular septal defects (VSD) 4
• Atrial septal defects (ASD) 4
• Hypertrophic cardiomyopathy (rare but potentially fatal association) 5
• Other conotruncal and structural cardiac malformations 6, 4

Embryological Correlation

The timing of cardiac defects correlates with the postulated development of Dandy-Walker malformation, suggesting a complex developmental anomaly occurring during the first trimester:

• Both the posterior fossa malformation and cardiac septal defects develop before 6 weeks' gestational age 4
• This temporal correlation indicates a shared critical period of embryonic vulnerability affecting both cardiac and cerebellar development 4

Clinical Management Implications

Mandatory Cardiac Evaluation

All infants diagnosed with Dandy-Walker syndrome require comprehensive cardiac evaluation at the time of diagnosis 5:

• Physical examination with specific attention to cardiac findings 5
• Echocardiography to detect structural cardiac anomalies 5
• ECG to assess for conduction abnormalities or cardiomyopathy 5

Surgical Considerations

When CSF diversion is required in patients with suspected or confirmed cardiac anomalies:

• Ventriculo-peritoneal shunt is preferable to ventriculo-atrial shunt to avoid cardiac complications 6
• The proximal catheter should be placed in the posterior fossa cyst (dilated fourth ventricle) rather than the lateral ventricle 6
• Preoperative cardiac clearance is essential given the high prevalence of cardiac defects 6, 4

Prognostic Implications

The presence of cardiac anomalies significantly impacts prognosis:

• Hypertrophic cardiomyopathy associated with DWM carries a particularly poor prognosis, with reported cases resulting in progressive heart failure and death within months 5
• Developmental outcomes are primarily affected by neurological deficits rather than cardiac anomalies, though cardiac defects contribute to overall morbidity 2
• Mortality risk is elevated when cardiac defects are present, particularly with complex or progressive cardiac disease 5

Critical Caveats

Early recognition of cardiac anomalies is crucial because:

• Cardiac defects may be asymptomatic initially but progress over time 5
• Failure to identify cardiac anomalies preoperatively can complicate neurosurgical management 6
• The combination of hydrocephalus requiring shunting and significant cardiac disease increases perioperative risk 6, 4

Isolated Dandy-Walker variant (without other anomalies) has better outcomes, with 5 of 6 patients showing normal development, but cardiac screening remains mandatory even in isolated cases 2