Should an electrocardiogram (ECHO) be automatically ordered for a neonate with a family history of bicuspid aortic valve?

Echocardiography for Neonates with Family History of Bicuspid Aortic Valve

An echocardiogram should not be automatically ordered for all neonates with a family history of bicuspid aortic valve (BAV) unless there are specific clinical indications suggesting cardiac abnormalities. 1

Clinical Decision Algorithm

Indications for Echocardiography in Neonates with Family History of BAV

Perform Echo if ANY of these are present:

• Cyanosis, respiratory distress, or abnormal arterial pulses 1
• Loud or abnormal cardiac murmur 1
• Cardiomegaly on chest radiograph 1
• Abnormal ECG suggesting structural heart disease 1
• Presence of a syndrome associated with cardiovascular disease and dominant inheritance or multiple affected family members 1
• Presence of a syndrome associated with BAV (e.g., Turner syndrome) 1

Echo NOT routinely indicated if:

• Asymptomatic neonate with normal cardiac examination 1
• Short, soft murmur at the lower left sternal border (likely innocent) 1
• Family history of BAV without other concerning findings 1

Rationale and Evidence

Prevalence and Inheritance

• BAV is the most common congenital cardiac malformation, affecting 1-2% of the population 2
• Approximately 9% of patients with BAV have family members who also have BAV 1
• BAV can be inherited in families as an autosomal dominant condition 1
• The prevalence of BAV in newborns is approximately 4.6 per 1,000 live births, with higher prevalence in males (7.1 per 1,000) than females (1.9 per 1,000) 3

Risk Assessment

• First-degree relatives of patients with BAV should be evaluated for the presence of BAV and asymptomatic thoracic aortic disease 1
• However, ACC/AHA guidelines do not recommend automatic echocardiography for all neonates with family history of BAV without other clinical indications 1
• History and physical examination by a skilled observer are usually sufficient to distinguish functional from pathologic murmurs 1

Potential Complications

• Most complications of BAV manifest later in life rather than in the neonatal period 4
• BAV may lead to aortic valve stenosis, regurgitation, aortic dilation, dissection, or infective endocarditis 2, 5
• BAV is often associated with other congenital heart defects, particularly coarctation of the aorta 2

Recommended Approach

1. Perform thorough cardiac examination of all neonates with family history of BAV

   • Assess for murmurs, abnormal pulses, cyanosis, respiratory distress
   • Evaluate for syndromes associated with BAV

2. Order echocardiogram only if:

   • Abnormal findings on cardiac examination
   • Presence of associated syndromes
   • Multiple affected family members suggesting dominant inheritance pattern

3. For asymptomatic neonates with normal examination:

   • Routine clinical follow-up
   • Consider later screening during childhood (ages 5-10) when echocardiographic imaging is technically easier and more reliable

Important Considerations

• The technical challenge of visualizing aortic valve anatomy in neonates may lead to false positives or missed diagnoses 6
• Unnecessary echocardiograms increase healthcare costs and parental anxiety
• The yield of screening all neonates with family history of BAV is not well established 1
• When BAV is identified, regular follow-up is necessary throughout life to monitor for development of complications 2

By following this evidence-based approach, clinicians can appropriately identify neonates who would benefit from echocardiographic evaluation while avoiding unnecessary testing in those at low risk.