Cardiac magnetic resonanceimaging inpatients with Fabry disease

Aim

Toevaluate heart involvement in patients with Fabry disease using cardiac magnetic resonance imaging (MRI) with late gadolinium enhancement (LGE).

Material and methods

Forty patients with Fabry disease (28 males and 12 females, median age 33 years) underwent cardiac MRI with LGE. Criteria of myocardial hypertrophy included left ventricular wall and/or interventricular septum thickening (≥12 mm) and increased left ventricular mass index (LVMI) >85 g/m2 in males and >81 g/m2 in females. LGE was studied in 17 segments of left ventricle.

Results

LVMI increased with age both in males and females. However, these changes did not reach statistical significance. Myocardial hypertrophy was found in 16 of 40 patients (40.0%), including 13 of 28 males (46.4%) and 3 of 12 females (25.0%). Patients with increased left ventricular mass were older than patients with normal LVMI, while a percentage of males in these groups was similar. Median LVMI was similar in males and females with myocardial hypertrophy (115.0 g/m2 and 114.0 g/m2, respectively). Myocardial hypertrophy was mild to moderate in 12 of 16 patients (75.0%) and symmetrical in 10 patients (62.5%). LGE indicating areas of intramyocardial fibrosis was detected in 7 of 16 patients (43.8%). Heart disease was frequently asymptomatic. Clinical signs of heart involvement included chest pain in 7 patients, atrial fibrillation in 3 patients and chronic heart failure in only 1 patient.

Conclusion

Cardiac MRI showed heart involvement in 40% of patients with Fabry disease. However, myocardial hypertrophy was mild to moderate in the majority of patients and frequently asymptomatic.

Key words

Fabry disease, MRI, cardiomyopathy, fibrosis, diagnosis.