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