Skip to main content

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