Table 1 Clinical characteristics of the 22 patients in the French Barth syndrome cohort
From: Natural history of Barth syndrome: a national cohort study of 22 patients
UPN | Family number | Sex | Age at diagnosis (y)/mode of onset | Age at last-follow-up (y)/vital status (cause of death) | Positive family history | Genotype | Mother with proven TAZ mutation | Median baseline ANC (x109/L) | Clinical signs of HF | SF/EF at diagnosis (%) | LVEDD z-score at diagnosis | LV mass z-score at diagnosis | LVNC | SGA new born | Age of walking (months) | 3-MGCA | Informative CL profile |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
5938 | 1 | F | 0.09/Cardiomyopathy | 2.56 D (Septic choc) | No | Del exon 1-5 | Yes | 0.85 | Yes | 9/24 | 3.1 | 4.6 | Yes | Yes | 24 | No | Yes |
5930 | 2 | M | 0.01/Cardiomyopathy | 7.82 L + Heart Transplanted at 0.65 y | No | Exon 2/c.143delinsGG/p.Glu48fsX | Yes | 1.93 | Yes | 20/38 | 4.5 | −0.4 | Yes | No | 24 | No | Yes |
5940 | 3 | M | 0.07/Infection | 3.45 L | No | Exon 3/c.280C > A/p.Arg94Ser | Yes | 0.98 | Yes | N/A | 0.7 | 1.4 | No | No | 20 | Yes | Yes |
7101 | 4 | M | 1.37/Cardiomyopathy | 3.20 L | No | Exon 3/c.281G > A/p.Arg94His | Not mutated | 2.90 | Yes | 19/30 | 13 | N/A | No | No | N/A | Yes | Yes |
5932 | 5 | M | 0.08/Cardiomyopathy | 13.5 L | Yes | Exon 4/c.356T > G/p.Val119Gly | Yes | 1.79 | Yes | 25/58 | 2.8 | N/A | Yes | No | N/A | Yes | Yes |
7112 | 6 | M | 0.69/Infection | 12.61 L | No | Exon 6/c.478A > T/p. Lys160X | N/A | 0.30 | No | 34/70 | −0.7 | −0.9 | No | No | 18 | Yes | Yes |
5941 | 7 | M | 0.05/Cardiomyopathy | 0.22 D (Acute HF) | Yes | Del exon 6-11 | N/A | 0.77 | Yes | 14/N/A | N/A | N/A | No | Yes | N/A | Yes | Yes |
5804 | 8 | M | 0.11/Cardiomyopathy | 11.02 L | Yes | Del exon 6-11 | Not mutated | 0.61 | Yes | 31/61 | 6.6 | N/A | No | Yes | 18 | Yes | N/A |
5937 | 9 | M | 0.13/Infection | 0.28 D (Acute HF) | No | Exon 8/c.589G > A/p.Gly197Arg | Yes | 1.00 | Yes | 10/N/A | 6.6 | N/A | No | Non | N/A | N/A | Yes |
5931 | 10 | M | IU/Cardiomyopathy | 0.47 D (Acute HF) | No | Exon 8/c.589G > T/p.Gly197Trp | Yes | 0.52 | Yes | 12.3/23.8 | 7.5 | 6.4 | No | Yes | N/A | Yes | Yes |
5939 | 11 | M | IU/Cardiomyopathy | 1.81 D (Electromechanical dissociation 12 hours after heart transplant) | Yes | Exon 8/c.646G > A/p.Gly216Arg | Yes | 13.63 | Yes | 25/N/A | 1.3 | N/A | No | Yes | N/A | No | Yes |
7105 | 11 | M | IU/Cardiomyopathy | 0.41 D (Acute HF) | Yes | Not tested | Yes | 0.66 | Yes | 20/N/A | 1.3 | N/A | No | No | N/A | N/A | N/A |
7104 | 11 | M | Birth/Cardiomyopathy | 0.16 D (HF) | Yes | Exon 8/c.646G > A/p.Gly216Arg | Yes | N/A | Yes | N/A | N/A | N/A | No | No | N/A | N/A | N/A |
5933 | 12 | M | 0.10/Sepsis | 0.10 D (Septic choc) | Yes | Not tested | Yes | 0 | No | N/A | N/A | N/A | No | No | N/A | N/A | N/A |
5934 | 12 | M | 0.71/Cardiomyopathy | 0.76 D (Acute HF + fever) | Yes | Del exon 8-9 | Yes | 2.50 | Yes | 13.7/25.6 | 12.7 | 7.8 | No | No | N/A | N/A | Yes |
5935 | 13 | M | 0.17/Cardiomyopathy | 0.47 D (Acute HF + fever) | Yes | Exon 9/c.659_660dupGTCC/p.Leu221fsX | Not mutated | 0.70 | Yes | 16/35 | 7.4 | 2 | No | No | N/A | No | Yes |
5936 | 13 | M | Birth/Cardiomyopathy | 2.17 L | Yes | Exon 9/c.659_660dupGTCC/p.Leu221fsX | Not mutated | 1.47 | Yes | 30/N/A | 3.3 | 8.6 | Yes | No | N/A | No | Yes |
6042 | 14 | M | 1.7/Growth delay | 4.33 L | Yes | Intron 9/c.700-1G > A/p. ? | Yes | 0.72 | Yes | 8.5/16.3 | 8.4 | 3.5 | Yes | Yes | N/A | No | N/A |
7100 | 15 | M | Birth/Hypoglycaemia | 4.75 L | Yes | not detected | not detected | 0.97 | Yes | 12.8/28.3 | 10.2 | 4.3 | Yes | Yes | 21 | Yes | Yes |
7102 | 15 | M | Birth/Cardiomyopathy | 0.43 D (HF) | Yes | Not tested | N/A | 2.88 | Yes | N/A | N/A | N/A | No | No | N/A | N/A | N/A |
7111 | 16 | M | Birth/Cardiomyopathy | 3.33 L | Yes | Intron 10/c. 778-1G > T | N/A | 3.82 | Yes | 16/36.1 | 1.9 | 3 | Yes | No | 18 | Yes | Yes |
7110 | 16 | M | Birth/Cardiomyopathy | 8.56 L | Yes | Intron 10/c. 778-1G > T | N/A | 4.28 | Yes | N/A | N/A | N/A | Yes | No | 12 | Yes | Yes |