Characteristics of Early Cardiac Involvement in 45 Patients With Fabry Disease Monitored by Ultrasonic Cardiogram / 中山大学学报(医学科学版)

ABSTRACT

ObjectiveTo evaluate the changes in cardiac structure and ventricular function in patients with Anderson-Fabry Disease （AFD） by two-dimensional speckle tracking echocardiography （2D-STE） and to explore the characteristics of their early cardiac involvement. MethodsAll 45 patients diagnosed with AFD in this observational study underwent routine ultrasonic cardiogram （UCG） examination and 2D-STE. The patients were divided into 2 groups based on UCG measurements： with left ventricular hypertrophy （interventricular septum or posterior left ventricular wall thickness ≥12 mm） and without left ventricular hypertrophy. TomTec software was used to analyze the echocardiographic images， then the baseline data， UCG routine parameters and myocardial strain of the two groups were compared. ResultsThe study included 27 males （60.0%） and 18 females （40.0%）， with an average age of （32.33±16.11）， 17 cases （37.78%） with left ventricular hypertrophy and 28 cases （62.22%） without left ventricular hypertrophy. All patients had normal left ventricular ejection fraction （LVEF） （> 50%）. Compared with those without left ventricular hypertrophy， patients with left ventricular hypertrophy had significantly more target organ involvement， significantly higher E/A and average E/E' ratios （P < 0.05）. No statistical difference was found in global and segmental longitudinal strain （LS）， circumferential strain （CS） and radial strain （RS） of the endocardium and myocardium between the two groups （all P > 0.05）. There were lower absolute values of global and segmental LS and CS in the myocardium than in the endocardium （all P < 0.05）， and higher absolute values of LS and RS in the mid segment than in the basal and apical segments （all P < 0.05）. ConclusionsThere is no significant association between early systolic dysfunction and left ventricular wall thickness. 2D-STE strain can be used to detect AFD in the early stage. Ventricular wall myocardium exhibits more serious involvement than endocardium and mid segment was less involved than the apical and basal segments.