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Table 1 Clinical and laboratory data of six Chinese patients with Barth syndrome

From: Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort

Patients

BTHS1

BTHS2

BTHS3

BTHS4

BTHS5

BTHS6

Gender

Male

Male

Male

Male

Male

Male

Birth weight (g)

2000

2400

2850

2300

2650

2300

First presentation

Pneumonia

Heart failure

Muscle weakness

Pneumonia

Heart failure

Pneumonia

Age of onset (months)

2.5

2.5

6.0

6.5

1.0

1.5

Age at diagnosis of cardiomyopathy

3.0

3.0

20.0

6.5

1.0

1.5

Growth retardation

+

+

+

+

+

+

Muscle hypotonia

+

+

+

+

+

+

Delayed motor

+

+

+

+

+

+

Echocardiogram

      

LVEDD z-score at diagnosis

5.7

3.8

3.3

5.3

5.7

4.0

LVEF/LVSF at diagnosis (%)

45.6/22.1

36.2/16.7

40.1/19.1

36.8/17.3

40.1/18.9

43.0/20.0

Noncompaction/compaction (NC/C)

1.58

2.20

2.11

2.75

4.00

1.62

Electrocardiogram

      

ST-T change

+

+

+

+

+

+

QTC (milliseconds)

441

431

401

341

460

403

Neutropenia

-

-

+

+

+

-

Creatine kinase (range 55-170U/L)

81

60

62

23

46

43

3-methylglutaconic aciduria

+

+

+

+

-

Not detected

TAZ gene mutation

c.527A > G (p.H176R)

c.527A > G (p.H176R)

c.367C > T (p.R123X)

c.710_711delTG (p.V237AfsX73)

c.134_136delinsCC (p.H45PfsX38)

Not detected

Age at death (months)

7.0

7.5

Alive

7.5

12.0

7.0

  1. LVEDD left ventricular end-diastolic dimension, LVEF left ventricular ejection fraction, LVSF left ventricular shortening fraction, QT C corrected QT interval