Case report: The medical implications of a bicuspid aortic valve discovered serendipitously in a young man

Sankavi

DMO, Kauvery Hospital, Cantonment, Trichy

Abstract

Bicuspid aortic valve (BAV) is a common congenital heart defect affecting approximately 1-2% of the population. It is often asymptomatic and discovered incidentally during routine medical evaluations or imaging studies. Physicians are often challenged when asked to provide evidence-based advice about BAV disease because the pathogenesis and pathophysiology of this disease are not well understood. This report discusses the serendipitous discovery of BAV in a healthy 29-year-old man and explores its medical implications, including the need for surveillance and management strategies to prevent potential complications.

Introduction

Bicuspid aortic valve is a type of abnormality in the aortic valve in the heart. In bicuspid aortic valve, the valve has only two small parts, called leaflets, instead of the normal three. The condition often remains undetected until adulthood, as many patients are asymptomatic.  However, it carries a lifelong risk of complications such as valvular dysfunctions like aortic stenosis, aortic regurgitation, infective endocarditis, and progressive aortic dilatation, which may lead to dissection. This case highlights the clinical course and management considerations following the incidental finding of BAV in a young, asymptomatic patient.

Etiology

While there is no known cause, it’s possible to inherit a bicuspid aortic valve. This happens in up to 25 percent of first-degree relatives of people with the condition. Men are twice as likely as women to be born with this heart valve disease.

Case Presentation

A 29-year-old man presented for a routine medical examination required for his participation in an athletic competition. He had no significant past medical history, reported no cardiovascular symptoms, and led an active lifestyle. His physical examination was unremarkable except for a  early mild diastolic murmur heard best at the left sternal border.

A transthoracic echocardiogram (TTE) was performed, revealing a bicuspid aortic valve with fusion of the right and left coronary cusps. There was mild aortic regurgitation but no significant stenosis. The aortic root and ascending aorta were within normal limits, measuring 3.1 cm. No other cardiac abnormalities were detected.

Investigation

Echo Report

Discussion

The serendipitous discovery of BAV in an asymptomatic young man underscores the importance of thorough cardiovascular assessment, even in individuals without symptoms. Key implications include:

1. Risk of Progressive Valvular Dysfunction

Aortic stenosis or Regurgitation: Even in young age, the valve may show early calcification or fail to close properly, leading to symptoms such as fatigue, exercise intolerance, or shortness of breath. If severe, it may limit physical performance and daily activities.

Although mild regurgitation was noted in this patient, he will require regular monitoring to detect progression.

2. Risk of Aortic dilatation or Aneurysm formation

Many young men with BAV develop progressive enlargement of the ascending aorta due to associated connective tissue abnormalities.

Increased risk of life-threatening aortic dissection or rupture, especially during strenuous physical activities or sports.

3. Risk of Infective Endocarditis

Patients with BAV have a higher susceptibility to infective endocarditis due to turbulent blood flow across the valve. Educating the patient on symptoms of endocarditis and appropriate prophylaxis during high-risk procedures is crucial.

Especially in young men engaging in activities that risk bloodstream infections (eg.tattoos, piercing).

4. Exercise restrictions

Depending on the degree of aortic enlargement or valve dysfunction, high intensity or contact sports may need to be avoided to minimise stress on the heart and aorta. While this patient is asymptomatic and participates in sports, individuals with BAV and significant aortopathy may require activity restrictions to minimise hemodynamic stress on the aorta

5. Familial and Genetic considerations

BAV often has a genetic component, with autosomal dominant inheritance and variable penetrance. Screening first-degree relatives with echocardiography is recommended to identify other affected individuals.

There may be an increased awareness of genetic predisposition to connective tissue disorders (eg. Marfan syndrome, Loeys-Dietz syndrome).

6. Need for life long monitoring

Young men will require regular echocardiograms and other imaging studies throughout the life to monitor for progression of valve dysfunction and aortic complications.

7. Potential for Early Surgical Intervention

Severe aortic stenosis or aneurysms may require valve replacement or aortic repair at an earlier age than expected

This can have implications for choosing a valve replacement option (eg. mechanical vs tissue valve), as younger patients may need re-operations.

8. Psychosocial and Lifestyle impacts

A diagnosis at a young age can create anxiety or uncertainty about physical limitations, career choices, or life expectancy.

Discussions about maintaining heart-healthy habits eg: avoiding smoking, alcohol, managing blood pressure are critical.

Management and Follow-Up

The patient was counselled on the implications of BAV and the importance of regular follow-up. He was advised to undergo annual echocardiographic monitoring to assess for progression of valve dysfunction or aortic dilation. Education on symptoms of aortic complications, such as chest pain, dyspnea, and syncope, was provided.

Given the absence of significant findings, no medical or surgical intervention was initiated at this stage.

Conclusion

This case highlights the importance of incidental findings, such as BAV, and their implications for long-term health. Although the condition may remain asymptomatic for years, the potential for life-threatening complications necessitates vigilant surveillance and patient education. Early detection provides an opportunity for timely intervention and improved outcomes.

References

  • Michelena, H. I., et al. “Bicuspid aortic valve: identifying knowledge gaps and rising to the challenge from the International Bicuspid Aortic Valve Consortium (BAVCon).” Circulation 2014.
  • Verma, S., & Siu, S. C. “Aortic dilatation in patients with bicuspid aortic valve.” New England Journal of Medicine 2014.
  • American College of Cardiology/American Heart Association guidelines on the management of patients with valvular heart disease, 2020.

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