Early Cardiac Involvement Affects Left Ventricular Longitudinal Function in Females Carrying α-Galactosidase A Mutation: Role of Hybrid Positron Emission Tomography and Magnetic Resonance Imaging and Speckle-Tracking Echocardiography.

Abstract

BACKGROUND:

Hybrid 18F-fluorodeoxyglucose (FDG) positron emission tomography and magnetic resonance imaging may differentiate mature fibrosis or scar from fibrosis associated to active inflammation in patients with Anderson-Fabry disease, even in nonhypertrophic stage. This study was designed to compare the results of positron emission tomography and magnetic resonance cardiac imaging with those of speckle-tracking echocardiography in heterozygous Anderson-Fabry disease females.

METHODS AND RESULTS:

Twenty-four heterozygous females carrying α-galactosidase A mutation and without left ventricular hypertrophy underwent cardiac positron emission tomography and magnetic resonance using 18F-FDG for glucose uptake and 2-dimensional strain echocardiography. 18F-FDG myocardial uptake was quantified by measuring the coefficient of variation (COV) of the standardized uptake value using a 17-segment model. Focal 18F-FDG uptake with COV >0.17 was detected in 13 patients, including 2 patients with late gadolinium enhancement at magnetic resonance. COV was 0.30±0.14 in patients with focal 18F-FDG uptake and 0.12±0.03 in those without (P<0.001). Strain echocardiography revealed worse global longitudinal systolic strain in patients with COV >0.17 compared with those with COV ≤0.17 (-18.5±2.7% versus -22.2±1.8%; P=0.024). For predicting COV >0.17, a global longitudinal strain >-19.8% had 77% sensitivity and 91% specificity and a value >2 dysfunctional segments 92% sensitivity and 100% specificity.

CONCLUSIONS:

In females carrying α-galactosidase A mutation, focal 18F-FDG uptake represents an early sign of disease-related myocardial damage and is associated with impaired left ventricular longitudinal function. These findings support the hypothesis that inflammation plays an important role in glycosphingolipids storage disorders.

• Authors: Letizia Spinelli, Massimo Imbriaco, Carmela Nappi, Emanuele Nicolai, Giuseppe Giugliano, Andrea Ponsiglione, Tommaso Claudio Diomiaiuti, Eleonora Riccio, Giovanni Duro, Antonio Pisani, Bruno Trimarco, Alberto Cuocolo
• Journal: Circulation. Cardiovascular imaging (Circ Cardiovasc Imaging) Vol. 11 Issue 4 Pg. e007019 (04 2018) ISSN: 1942-0080 [Electronic] United States
• PMID: 29626078 (Publication Type: Journal Article)
• Copyright: © 2018 American Heart Association, Inc.

Chemical References

• Biomarkers
• Contrast Media
• Radiopharmaceuticals
• Troponin
• Fluorodeoxyglucose F18
• alpha-Galactosidase
• Gadolinium DTPA

Topics

• Adult
• Aged
• Biomarkers (blood)
• Cardiac-Gated Imaging Techniques
• Contrast Media
• Echocardiography, Doppler (methods)
• Fabry Disease (diagnostic imaging, genetics)
• Female
• Fluorodeoxyglucose F18
• Gadolinium DTPA
• Humans
• Magnetic Resonance Imaging (methods)
• Middle Aged
• Multimodal Imaging
• Mutation (genetics)
• Positron-Emission Tomography (methods)
• Radiopharmaceuticals
• Sensitivity and Specificity
• Troponin (blood)
• Ventricular Dysfunction, Left (diagnostic imaging, genetics)
• alpha-Galactosidase (genetics)