What is the ICD10 (International Classification of Diseases, 10th Revision) code for a history of bicuspid aortic valve genetic condition?

ICD-10 Code for History of Bicuspid Aortic Valve (Genetic)

The appropriate ICD-10 code is Z82.49 (Family history of ischemic heart disease and other diseases of the circulatory system) for documenting genetic/familial risk, or Q23.1 (Congenital insufficiency of aortic valve) if documenting the patient's own bicuspid aortic valve as a congenital condition.

Primary Coding Options

For Personal History of BAV:

• Q23.1 - Congenital insufficiency of aortic valve (this code encompasses bicuspid aortic valve as a congenital malformation) 1
• This code should be used when documenting the patient's own bicuspid aortic valve diagnosis

For Family History/Genetic Risk:

• Z82.49 - Family history of ischemic heart disease and other diseases of the circulatory system 1
• This code is appropriate when documenting familial clustering, as 9% of BAV patients have first-degree relatives with the condition 1, 2

Clinical Context for Coding

BAV demonstrates significant familial inheritance patterns that justify genetic/family history coding:

• BAV occurs in 0.5-2% of live births, making it the most common congenital cardiac malformation 1, 2
• The condition shows autosomal dominant inheritance with reduced penetrance and variable expressivity 3
• First-degree relatives of BAV patients should be screened, as familial clustering occurs in 9% of cases 1, 2

Additional Relevant Codes

When BAV is associated with aortopathy or complications, consider:

• I71.01 - Dissection of ascending aorta (if dissection has occurred, as BAV patients have 8-10 fold increased risk) 2
• I35.0 - Nonrheumatic aortic (valve) stenosis (when stenosis develops)
• I35.1 - Nonrheumatic aortic (valve) insufficiency (when regurgitation is present)
• I77.811 - Thoracic aortic ectasia (for associated aortic dilatation, which occurs in 40% of clinical series) 2

Important Coding Considerations

The genetic basis of BAV remains complex:

• No single-gene model explains BAV inheritance, with each identified gene accounting for <5% of cases 1, 2
• Several genes implicated in embryogenesis have been associated with BAV, including NOTCH1, GATA4/5, and genes related to syndromic conditions like FBN1 and TGFBR2 3
• Genetic testing is not routinely indicated for isolated BAV but may be considered in patients with syndromic features or family history of aortic disease 1

Clinical surveillance requirements support the need for accurate coding:

• All BAV patients require evaluation of both the aortic root and ascending aorta for dilatation 1
• Lifetime morbidity burden reaches 86%, predominantly from valve-related complications 2
• First-degree relatives require screening by echocardiography 1