Structural and functional cardiac analyses using modern and sensitive myocardial techniques in adult Pompe disease.
The purpose of this study was to analyze comprehensively the heart using modern and sensitive myocardial techniques in order to determine if structural or functional cardiac alterations are present in adult Pompe disease. Twelve patients with adult Pompe disease and a control group of 187 healthy subjects of similar age and gender were included. Structural and functional cardiac characteristics were analyzed by conventional and 2D speckle-tracking echocardiography. In addition, in a subgroup of adult Pompe patients, we analyzed the myocardial and musculoskeletal features by means of cardiac and whole-body muscle magnetic resonance imaging. Patients with Pompe disease had significant structural and functional musculoskeletal alterations such as atrophy with fatty replacement and weakness in trunk and extremities. In contrast, Pompe patients had similar structural and functional myocardial features to healthy subjects (LV strain -20.7 ± 1.9 vs. -21.3 ± 2.1%; RV strain -24.2 ± 5.3 vs. -24.8 ± 3.8%; LA strain 41.5 ± 10.3 vs. 44.8 ± 11.0%; P > 0.05; and no evidence of LV and RV hypertrophy or LA enlargement). In addition, there was no evidence of valvular cardiac alterations, electrocardiographic abnormalities, or myocardial fibrosis in Pompe patients. In the current study analyzing the heart with modern and sensitive myocardial techniques, we evidenced that functional and structural cardiac alterations are not present when Pompe disease begins in adulthood. Therefore, these findings suggest that adult Pompe disease should not be taken into consideration in the differential diagnostic of structural or functional cardiac disorders.
Department of Cardiology, Campus Virchow Klinikum, Charité University Hospital, Augustenburger Platz 1, 13353, Berlin, Germany, daniel-armando.morris@charite.de.
Daniel A
DA
Morris
Daniela
D
Blaschke
Alice
A
Krebs
Sima
S
Canaan-Kühl
Ursula
U
Plöckinger
Gesine
G
Knobloch
Thula C
TC
Walter
York
Y
Kühnle
Leif-Hendrik
LH
Boldt
Elisabeth
E
Kraigher-Krainer
Burkert
B
Pieske
Wilhelm
W
Haverkamp
D000328:Adult; D016022:Case-Control Studies; D003952:Diagnostic Imaging / Q000379:methods; D015150:Echocardiography, Doppler; D005260:Female; D005355:Fibrosis; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000175:diagnosis; D006331:Heart Diseases / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D017380:Hypertrophy, Right Ventricular / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009206:Myocardium / Q000473:pathology*; D011237:Predictive Value of Tests; D012307:Risk Factors; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D018497:Ventricular Dysfunction, Right / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D016277:Ventricular Function, Left; D016278:Ventricular Function, Right; D055815:Young Adult