Bicuspid aortic valve with risk of aortic valve stenosis and dilatation

Bicuspid aortic valve (BAV) shows a strong genetic contribution and frequently occurs in families. When a causative pathogenic variant is identified, inheritance is typically autosomal dominant with reduced penetrance and variable expressivity. Consequently, not all variant carriers develop disease, and clinical severity cannot be predicted from genotype alone.

Bicuspid aortic valve (BAV) is typically diagnosed by transthoracic echocardiography, which allows assessment of valve morphology, valve dysfunction, and associated aortic dilatation.

Conditions to consider in individuals with bicuspid aortic valve and/or associated aortopathy include:

• : particularly in the presence of aortic root dilatation and characteristic skeletal or ocular findings.
• : may present with arterial aneurysms and other syndromic features.
• Turner syndrome: bicuspid aortic valve and coarctation of the aorta are well-recognised cardiovascular manifestations.
• Heritable thoracic aortic disease: including conditions associated with genes such as ACTA2, that may occur with or without a bicuspid aortic valve.

• Supporting molecular diagnosis: genetic testing may identify an underlying hereditary cause in a subset of individuals with bicuspid aortic valve, particularly when additional cardiovascular features or a positive family history are present.
• Risk assessment and clinical management: identification of a pathogenic variant may support surveillance and management decisions for affected individuals and their families.
• Family testing: when a pathogenic variant is identified, predictive testing can be offered to at-risk relatives. Because penetrance may be incomplete, the presence of a variant does not necessarily predict disease severity or clinical outcome.

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