Coronary artery dissection in adult-onset homocystinuria

Area of Science:

• Cardiology
• Genetics
• Metabolic Disorders

Background:

• Homocystinuria is a rare metabolic disorder associated with an increased risk of thrombotic events.
• Spontaneous coronary artery dissection (SCAD) is an uncommon cause of myocardial infarction, particularly in adults.
• Delayed diagnosis of homocystinuria can lead to severe cardiovascular complications.

Purpose of the Study:

• To report the first case of SCAD in adult-onset homocystinuria.
• To highlight the diagnostic challenges and clinical manifestations of homocystinuria.
• To emphasize the importance of early diagnosis and management of homocystinuria for preventing cardiovascular events.

Main Methods:

• Case presentation of a patient with adult-onset homocystinuria.
• Review of patient's medical history including thrombotic events and clinical findings.
• Genetic analysis of the Cystathionine β-synthase (CBS) gene.
• Biochemical assessment of plasma homocysteine levels before and after treatment.

Main Results:

• The patient experienced spontaneous arterial coronary dissection leading to premature myocardial infarction.
• A history of unexplained venous and arterial thrombosis was noted, with diagnosis of homocystinuria delayed by 20 years.
• Pectus carinatum was the sole identified clinical feature related to homocystinuria phenotype.
• Compound heterozygous mutations in the CBS gene were identified.
• Plasma homocysteine levels normalized after 3 months of pyridoxine treatment.

Conclusions:

• Adult-onset homocystinuria can present with severe cardiovascular complications such as SCAD and myocardial infarction.
• Early detection and management of homocystinuria are crucial to prevent thrombotic events.
• Pyridoxine is an effective treatment for normalizing homocysteine levels in patients with CBS gene mutations.