Harris, Ian

Ipek, Esra Gucuk

Packman, Seymour

Ranjan, Rupesh

Ryvlin, Antonina

Weisiger, Kara

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Heart Failure and Cardiomyopathies
A780
JACC March 17, 2015
Volume 65, Issue 10S
the heArt In gAucher dIseAse: An echocArdIogrAPhIc study
Moderated Poster Contributions
Heart Failure and Cardiomyopathies Moderated Poster Theater, Poster Hall B1
Saturday, March 14, 2015, 4:15 p.m.-4:25 p.m.
Session Title: Novel Applications of Echo Imaging in Heart Failure
Abstract Category: 14.  Heart Failure and Cardiomyopathies: Clinical
Presentation Number: 1166M-07
Authors: Rupesh Ranjan, Esra Gucuk Ipek, Kara Weisiger, Antonina Ryvlin, Seymour Packman, Ian Harris, University of California, San 
Francisco, San Francisco, CA, USA
Background:  Gaucher disease (GD) is an autosomal recessive disorder of lysosomal storage resulting in accumulation of 
glucosylceramide in various organs. Cardiovascular involvement is well recognized, but the complete spectrum of cardiovascular 
phenotypes has never been documented. The aim of our study was to describe the echocardiographic findings in a series of well-
characterized and genotyped GD patients.
methods:  We reviewed TTE performed on 33 patients (m=14, f=19, mean age 46 ± 17 years) with GD. We evaluated traditional (2-D, 
color, M-mode, tissue Doppler) and novel (speckle strain analysis) echocardiographic parameters.
results:  Concentric LV remodeling was noted in 10 of 33 patients. 5 had LVMI of >100 gm/m2. Only 1 patient had PASP > 35 (mean 
25 ± 6) mmHg. Premature valvular calcification of mitral and aortic (age <65) was seen in 45% (n=15). Of these, 8 had genotype N370S/
N370S and 13 were on enzyme therapy. Average global longitudinal strain (GLS) and strain rate (SR) were 18.35 ± 2.4 and 0.84 ± 0.14, 
respectively. In patients with GLS < 16 the LVMI was significantly higher (92 ± 40 vs. 71 ± 18, p = 0.05).
conclusion:  This is the first comprehensive echocardiographic series demonstrating the spectrum of cardiac phenotypes in GD. Important 
observations include concentric remodeling, high LVMI, valvular calcification and abnormal GLS and SR. SR and GLS were lower in 
general and were negatively related to LVMI. These abnormalities will need to be studied in a larger cohort and compared to controls.
Genotype N370S/N370S N370S/L444P N370S/84GG other all
PASP (mmHg) 25.6 ± 6 26.2 ± 6 27.9 ± 8 25.3 ± 6 26 ± 6
LVMI (gm/m2) 79 ± 30 75 ± 27 78 ± 38 75 ± 25 75 ± 24
Valve abnormalities 7/14 1/5 5/5 5/9 18/33
Global longitudinal strain 17.7 ± 1.9 17.8 ± 2.2 17.1 ± 1.6 17.7 ± 1.9 18.4 ± 2.4
LV strain rate 0.9 ± 0.12 0.9 ± 0.14 0.9 ± 0.16 0.9 ± 0.12 0.8 ± 0.14
Left ventricular end diastolic volume Index (ml/m2) 48 ± 11 47 ± 11 47 ± 7 48 ± 11 48 ± 10
Left ventricular end systolic volume Index (ml/m2) 17 ± 5 16 ± 4 15 ± 4 17 ± 5 16 ± 4.5
LVEF (%) 66 ± 5 66 ± 5 66 ± 6 66 ± 5 66 ± 5
Aortic root dimension (cm) 3.0 ± 0.45 2.9 ± 0.35 3.0 ± 0.34 3.0 ± 0.4 3.0 ± 0.5


THE HEART IN GAUCHER DISEASE: AN ECHOCARDIOGRAPHIC STUDY 

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THE HEART IN GAUCHER DISEASE: AN ECHOCARDIOGRAPHIC STUDY

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