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Table 2 Cardiac features and imaging modalities results in the index patient

From: Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles

Variables

Index patient

Cardio-vascular

 Systolic blood pressure (mmHg)

115

 Diastolic blood pressure (mmHg)

75

 Heart rate (bpm)

68

Cardiac stress test

 maximal heart rate (bpm)

133

 maximal watts (watts)

75

Echocardiography

 LVEF (%)

68

 IVSd (mm)

11

 LVPWd (mm)

11

 LVMI (g/m2)

88

 E/A

1.3

 E/E’

10

 DT (ms)

155

Speckle tracking strain [%]

 global strain

−23.44

 basal strain

−15.79

 mid strain

−21.18

 apical strain

−33.74

 septal strain

−25.71

 lateral strain

−21.43

Speckle tracking strain rate [S−1]

 global strain rate

−1.50

 basal strain rate

−1.24

 mid strain rate

−1.25

 apical strain rate

−2.17

 septal strain rate

−1.61

 lateral strain rate

−1.49

Cardiac MRI

 LGE (yes/no)

none

 normalized LVM (g/m2)

66.7

 normalized ESV (ml/m2)

26.0

 normalized EDV (ml/m2)

75.9

 normalized SV (ml/m2)

49.9

 CI (l/min/m2)

3.19

 LVEF (%)

65.7

  1. Abbreviations: DT deceleration time, IVSd interventricular septum thickness in end-diastole, LVEF left ventricular ejection fraction in %, LVMI left ventricular mass index in echocardiography, LVPWD left ventricular posterior wall thickness in end-diastole, normalized EDV normalized end-diastolic volume in cardiac MRI, normalized ESV normalized end-systolic volume in cardiac MRI, normalized LVM normalized left ventricular mass in cardiac MRI, normalized SV normalized stroke volume in cardiac MRI