Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation

Area of Science:

• Genetics and Inherited Diseases
• Cardiology
• Diagnostic Challenges

Background:

• Anderson-Fabry disease is an X-linked inherited disorder with diverse clinical manifestations influenced by gender and genotype.
• Diagnosis is complicated by its multi-organ involvement, varied phenotypes, differing presentation timelines, gender disparities, and potential comorbidities.
• Late-onset or cardiac-predominant forms can further obscure diagnosis.

Observation:

• Case 1: A 72-year-old female heterozygote presented with significant left and mild right ventricular hypertrophy detected via echocardiography.
• Case 2: A 62-year-old male hemizygote showed left ventricular hypertrophy, a pacemaker, history of percutaneous coronary intervention, and moderate aortic stenosis.
• Case 3: A 45-year-old asymptomatic female heterozygote had thickened mitral papillary muscles, mild left ventricular hypertrophy, and diastolic dysfunction.
• Case 4: A 75-year-old symptomatic female heterozygote developed cardiomyopathy with reduced ejection fraction post-cardiac surgery.

Findings:

• All presented patients were diagnosed with Anderson-Fabry disease.
• Clinical presentations varied significantly based on gender, mutation type, and disease progression.
• Cardiac manifestations included hypertrophy, valve disease, arrhythmias, and cardiomyopathy with reduced ejection fraction.

Implications:

• Recognizing the spectrum of cardiac involvement in Anderson-Fabry disease is crucial for accurate diagnosis.
• Early detection through comprehensive cardiac assessment can improve patient outcomes.
• Understanding gender and genotype-specific presentations aids in managing this complex inherited disorder.