Cardiovascular findings in classic homocystinuria

Area of Science:

• Cardiology
• Genetics
• Internal Medicine

Background:

• Classic Homocystinuria is a rare genetic disorder.
• Cardiovascular complications are a known concern in Homocystinuria.
• Echocardiogram and electrocardiogram data in this population are limited.

Purpose of the Study:

• To describe cardiovascular findings from echocardiograms and electrocardiograms in patients with Classic Homocystinuria.
• To identify common cardiac abnormalities and their prevalence.

Main Methods:

• Retrospective exploratory study of 14 patients with Classic Homocystinuria.
• Data collected from medical records between 1997 and 2020.
• Included clinical findings, echocardiogram, and electrocardiogram data.

Main Results:

• Eight patients (57%) showed abnormalities on echocardiogram or electrocardiogram.
• Mild tricuspid regurgitation (21%) was the most frequent finding.
• Other findings included mitral valve prolapse, mitral regurgitation, enlarged left atrium, aortic valve sclerosis, and aortic root ectasia.
• Six patients experienced venous thrombosis, including deep vein thrombosis, ischemic stroke, and cerebral venous sinus thrombosis.

Conclusions:

• Mild valvulopathies appear common in Classic Homocystinuria.
• Venous thrombosis is a significant concern in this patient group.
• More extensive research on echocardiogram and electrocardiogram findings is necessary.