Which investigations are recommended for confirming a diagnosis of congenital heart defects in primary care?

Investigations recommended in primary care to confirm a diagnosis of congenital heart defects include:

• Clinical assessment: Take a detailed history and perform a thorough clinical examination, including auscultation for murmurs suggestive of structural heart defects.
• Electrocardiogram (ECG): Perform a resting 12-lead ECG to detect any electrical abnormalities that may indicate cardiac structural or conduction defects.
• Chest X-ray: Consider a chest X-ray to assess heart size and pulmonary vasculature, which may suggest congenital abnormalities.
• Referral for echocardiography: If a murmur or other signs suggest valve or structural heart disease, offer transthoracic echocardiography to confirm the diagnosis and assess cardiac anatomy and function. Echocardiography should be performed by experienced operators using high-resolution equipment.
• Specialist referral: Refer promptly for specialist cardiology assessment and echocardiography if congenital heart defect is suspected, especially if symptoms or signs are severe or if urgent assessment is needed.

These steps align with NICE recommendations for investigating suspected heart valve disease and heart failure, which include echocardiography as the key diagnostic tool to confirm structural heart defects and assess cardiac function. ECG and chest X-ray are useful adjuncts in primary care to support the suspicion of congenital heart disease before referral.

Note that specific congenital heart defect diagnosis often requires specialist imaging beyond primary care, but initial investigations and timely referral are critical.

References: ¹, ³