title: Left ventricular diastolic dysfunction in type I Gaucher disease: an echo Doppler study.
abstract: Type I Gaucher disease (GD1) is an autosomal recessive lysosomal storage disease characterized by multiorgan damage. Left ventricular (LV) involvement has been rarely reported. Accordingly, the aim of the study was to evaluate LV geometry and function in a series of patients with GD1. Eighteen patients with GD1, 18 age- and sex-matched normal controls, and 18 age- and sex-matched hypertensive patients (HTN) were compared by standard echo Doppler examination. LV mass index, relative wall thickness and ejection fraction, transmitral E/A ratio, E velocity deceleration time (DT), atrial filling fraction (AFF = time-velocity integral of A velocity/time-velocity integral of total diastole × 100), E/e' ratio, and left atrial volume index were determined. Nine GD1 patients also exhibited arterial hypertension. The intergroup difference of LV mass index and relative wall thickness was not significant. Transmitral E/A ratio was lower in HTN than in normal controls and GD1 (P < 0.05). GD1 exhibited longer DT than NC and HTN (P = 0.009). AFF was higher in GD1 and HTN compared to NC (P = 0.034). After adjustment for heart rate, GD1 was associated with longer DT (P < 0.001) and greater AFF (P = 0.036), while HTN was associated only with AFF (P = 0.013). No interaction was found between GD1 and HTN. In conclusion, GD1 is associated with subclinical LV diastolic dysfunction, which is independent of the coexistence of arterial hypertension. Subclinical LV impaired relaxation in the context of myocardial infiltrative damage could be the mechanism underlying these alterations.
authors.affiliation: Hypertension Research Center and Department of Medical Translational Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Lo Iudice
authors.affiliation: Department of Clinical Medicine and Surgery, Federico II University Hospital, Naples, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Barbato
authors.affiliation: Department of Clinical Medicine and Surgery, Federico II University Hospital, Naples, Italy.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Muscariello
authors.affiliation: Hypertension Research Center and Department of Medical Translational Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Di Nardo
authors.affiliation: Department of Clinical Medicine and Surgery, Federico II University Hospital, Naples, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: de Stefano
authors.affiliation: Division of Pediatrics and Neonatology, Moscati Hospital, Aversa (CE), Italy.
authors.forename: Michelina
authors.initials: M
authors.lastname: Sibilio
authors.affiliation: Department of Clinical Medicine and Surgery, Federico II University Hospital, Naples, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Strazzullo
authors.affiliation: Hypertension Research Center and Department of Medical Translational Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: de Simone
authors.affiliation: Hypertension Research Center and Department of Medical Translational Sciences, Federico II University Hospital, Naples, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Galderisi
mesh_terms: D003937:Diagnosis, Differential; D015150:Echocardiography, Doppler / Q000379:methods*; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000000981:diagnostic imaging*; D006801:Humans; D006973:Hypertension / Q000175:diagnosis* / Q000209:etiology; D008297:Male; D008875:Middle Aged; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging* / Q000209:etiology*
keywords: Gaucher disease; atrial filling fraction; diastole; echocardiography; left ventricle