Rare Genetic Disorder Linked to Severe Cardiovascular Complications

A 63-year-old male with a known family history of alkaptonuria presented with dyspnea and severe aortic stenosis, highlighting the significant cardiovascular complications associated with this rare genetic disorder. The patient's coronary artery disease was found to be diffuse and severe, with characteristic ochronotic pigmentation observed intraoperatively during aortic valve replacement. Researchers from Hospital Clinico San Carlos stress the importance of early recognition and timely intervention to prevent severe cardiovascular consequences.

Key Takeaways:

• Alkaptonuria, a rare autosomal recessive disorder, is characterized by homogentisic acid accumulation, leading to ochronosis and multisystemic manifestations, including cardiovascular complications.
• A 63-year-old male patient with a known family history of alkaptonuria presented with dyspnea and severe aortic stenosis, highlighting the potential for severe cardiovascular involvement in this disorder.
• Coronary angiography revealed diffuse, severe calcific coronary artery disease, underscoring the importance of early detection and treatment.
• Characteristic ochronotic pigmentation was observed intraoperatively during aortic valve replacement, indicating the need for biochemical testing and imaging to detect early valvular and coronary artery disease in patients with alkaptonuria.
• Early-onset valvular disease should raise suspicion of underlying systemic disorders such as alkaptonuria.
• Routine screening with echocardiography and computed tomography coronary angiography should be considered in patients with alkaptonuria to detect early valvular and coronary artery disease.
• Timely intervention and early recognition are essential to prevent severe cardiovascular complications in patients with alkaptonuria.
• The patient underwent successful mechanical aortic valve replacement, demonstrating the importance of prompt surgical intervention in patients with severe aortic stenosis.
• The research emphasized the need for healthcare professionals to consider alkaptonuria as an underlying cause of severe valvular and coronary artery disease, particularly in patients with a family history of the disorder.

Statistics:

• The patient was 63 years old at the time of presentation.
• The patient had a known family history of alkaptonuria.
• The patient underwent coronary angiography, revealing diffuse, severe calcific coronary artery disease.
• The patient underwent successful mechanical aortic valve replacement.
• The patient was found to have characteristic ochronotic pigmentation intraoperatively.
• Cardiovascular involvement in alkaptonuria, although rare, can cause severe valvular and coronary artery disease.
• The research concluded that routine screening with echocardiography and computed tomography coronary angiography should be considered in patients with alkaptonuria to detect early valvular and coronary artery disease.

Sources:

• Cardiac Manifestations of Alkaptonuria: Aortic Valve Stenosis and Coronary Artery Disease in a 63-Year-Old Patient. JACC Case Reports, 2025;30(31):105327.
• NewsRx. Research from Hospital Clinico San Carlos Yields New Findings on Aortic Valve Stenosis (Cardiac Manifestations of Alkaptonuria: Aortic Valve Stenosis and Coronary Artery Disease in a 63-Year-Old Patient). Cardiovascular Week. October 20, 2025; p 127.