Late-Onset Fabry Disease Presenting With Ventricular Tachycardia Originating From Typical Inferolateral Scar

Area of Science:

• Cardiology
• Genetics
• Rare Diseases

Background:

• Late-onset cardiac Fabry disease is a significant cause of unexplained left ventricular hypertrophy.
• Patients may present with a less severe phenotype but face risks of life-threatening complications.

Observation:

• Classical imaging findings strongly suggest cardiac Fabry disease.
• Atypical presentations, including ischemic features mimicking other cardiac conditions, can occur.
• The presence of ischemic findings should not preclude considering LO-cFD, even without obstructive coronary artery disease.

Findings:

• LO-cFD is an underdiagnosed cause of LVH, particularly in older adults.
• Life-threatening cardiac events can be the first manifestation of LO-cFD.
• Fabry disease can coexist with or mimic ischemic heart disease.

Implications:

• A high index of suspicion for LO-cFD is necessary in patients with unexplained LVH, especially with atypical features.
• Early diagnosis of LO-cFD allows for targeted therapies to prevent severe cardiac complications.
• Broadening the differential diagnosis for LVH to include LO-cFD can improve patient outcomes.