barth syndrome registry july 29, 2010 carolyn spencer, md and amy e. roberts, md children’s...
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Barth Syndrome Registry
July 29, 2010Carolyn Spencer, MD andAmy E. Roberts, MDChildren’s Hospital Boston
Barth Syndrome Registry65 subjects- infancy to 28 years of age
8 countriesSelf reported dataMedical data- abstracted from medical recordsDNA – 50 subjects (Roberts lab)Lymphoblasts – 41 subjects (Johns Hopkins Univ.)Fibroblasts (from non-cardiac surgeries) - 3
subjects (Bill Pu)Myocardium/autopsy – 3 subjects (Amy Roberts)
Distribution of Registry Subjects, United States
WA
OR
CA
NV
AZNM
MT
UT
WY
CO
SD
ND
NE
KS
OK
TXAK
AR
MO
IA
MN
WI
IL IN
MI
OH
KY
TN
MS AL GA
FL
LA
NC
SC
VAWV
PA
NY
VTNH
ME
MA
DEMD
RI
ID
HI
NJ
PR
CT
Number of Cases
WhiteWhite 0
GreenGreen 1-2
YellowYellow 3-5
BrownBrown 6-10
RedRed >10
29 From Outside US•AustraliaAustralia•CanadaCanada•FranceFrance•GermanyGermany•South AfricaSouth Africa•United Kingdom (13)United Kingdom (13)
Web based data entry
Total number of subjects: 65Total number of echos: 353 (50 subjects)Total number of cbc's: 239 (48 subjects)
28 measured while on GCSF126 not on GCSF85 GCSF status unknown
Total number of growth entries: 467 (58 subjects)
Web based data entryhttps://www.peds.ufl.edu/barthsyndromeregis
try/data/
Barth Syndrome: height 0-3 years of age
0.0 0.5 1.0 1.5 2.0 2.5 3.0
40
60
80
100
97% normal
50% normal
P3% normal
____ = Barth height
age
hei
gh
t cm
Barth Syndrome: height 2 - 25 years of age
5 10 15 20 25 30
100
150
200
97% normal
50% normal
3% normal
___ Barth height
Age: years
hei
gh
t: c
m
Barth Syndrome: height 2 - 25 years of age
5 10 15 20 25 30
100
150
200
97% normal
50% normal
3% normal
___ Barth height
Age: years
hei
gh
t: c
m
Age vs Body Mass Index (BMI)
5 10 15 20 25 300
10
20
30
403% normal50% normal97% normalbmi- Barth
Age: Years
BM
I
age vs sf
0 5 10 15 20 25 300
10
20
30
40
age - years
Sh
ort
enin
g F
ract
ion
(%
)
age vs ef
0 5 10 15 20 25 3010
20
30
40
50
60
70
80
age - years
Eje
ctio
n F
ract
ion
%
SF vs age subject 77
10
15
20
25
30
35
0.00 2.00 4.00 6.00 8.00 10.00 12.00 14.00 16.00 18.00
age- years
SF
%
SF subject 82
10
15
20
25
30
35
40
45
0.00 2.00 4.00 6.00 8.00 10.00 12.00 14.00 16.00 18.00 20.00 22.00 24.00 26.00
age- years
SF
%
EF subject 80
20
30
40
50
60
70
80
0.00 2.00 4.00 6.00 8.00 10.00 12.00 14.00 16.00 18.00 20.00 22.00 24.00
age- years
EF
%
Cardiomyopathy7 Subjects have had heart transplantOf 50 subjects with echos:
30 subjects with mention of LVNC or hypertrabeculation on at least one echo
65 subjects: 57 with self reported data Of 57 subjects:
54 report + history of cardiomyopathy 3 report no cardiomyopathy
Age of presentation of Cardiomyopathyn=57
No CM
Y
Birth -
1 m
onth
1 - 6
month
s
6 - 1
2 m
onths
1-2
year
s
2-5
year
s
5 - 1
5 ye
ars
0
10
20
30N
um
ber
of
pat
ien
ts
Total WBC Count
Barth
Mea
n WBC
Barth
WBC- G
CSF No
Barth
WBC- G
CSF Yes
0
2
4
6
8
10
12
14
WB
C (
tho
u/c
u m
m)
Total number of cbc's: 239 (48 subjects)
28 on GCSF126 not on GCSF85 GCSF status unknown
FEEDING ISSUESOf 58 completed questionnaires
26 subjects (45%) had/have an NG or G Tube