Patient with Fabry disease undergoing cardiac surgery: a word of caution

Area of Science:

• Genetics
• Biochemistry
• Cardiology

Background:

• Fabry disease (FD) is a rare X-linked genetic disorder caused by deficient alpha-galactosidase A (AGAL) activity.
• This deficiency leads to the accumulation of globotriaosylceramide (Gb3) in lysosomes, impacting multiple organ systems.
• FD presents with diverse clinical phenotypes, from severe classic forms to milder non-classical presentations.

Observation:

• A 23-year-old male patient with a history of kidney transplantation and chronic hemodialysis was admitted due to severe aortic regurgitation.
• The patient presented with suspected aortic valve endocarditis and vegetations posing a high embolic risk.
• The patient's kidney graft had failed one year post-transplantation.

Findings:

• The case underscores the potential for severe cardiovascular complications in Fabry disease, specifically aortic valve involvement.
• The patient's history of kidney transplantation and graft failure highlights the systemic impact of FD.
• The presence of vegetations indicates a critical cardiac event requiring urgent management.

Implications:

• This case emphasizes the importance of early diagnosis and comprehensive management of Fabry disease to prevent severe organ damage.
• Cardiovascular surveillance is crucial for FD patients, particularly for detecting valvular abnormalities.
• Understanding the heterogeneity of FD phenotypes is essential for tailoring patient care and prognosis.