BackgroundThis study describes the natural history of Barth syndrome (BTHS).MethodsThe medical records of all patients with BTHS living in France were identified in multiple sources and reviewed.ResultsWe identified 16 BTHS pedigrees that included 22 patients. TAZ mutations were observed in 15 pedigrees. The estimated incidence of BTHS was 1.5 cases per million births (95%CI: 0.2–2.3). The median age at presentation was 3.1 weeks (range, 0–1.4 years), and the median age at last follow-up was 4.75 years (range, 3–15 years). Eleven patients died at a median age of 5.1 months; 9 deaths were related to cardiomyopathy and 2 to sepsis. The 5-year survival rate was 51%, and no deaths were observed in patients ≥3 years. Fourteen patients presented with cardiomyopathy, and cardiomyopathy was documented in 20 during follow-up. Left ventricular systolic function was very poor during the first year of life and tended to normalize over time. Nineteen patients had neutropenia. Metabolic investigations revealed inconstant moderate 3-methylglutaconic aciduria and plasma arginine levels that were reduced or in the low-normal range. Survival correlated with two prognostic factors: severe neutropenia at diagnosis (<0.5 × 109/L) and birth year. Specifically, the survival rate was 70% for patients born after 2000 and 20% for those born before 2000.ConclusionsThis survey found that BTHS outcome was affected by cardiac events and by a risk of infection that was related to neutropenia. Modern management of heart failure and prevention of infection in infancy may improve the survival of patients with BTHS without the need for heart transplantation.

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The acute effects of surfactant instillation rate on the cerebral and cardiovascular haemodynamics were studied in a randomised trial of 27 preterm neonates with respiratory distress syndrome (RDS). Cerebral blood flow velocity (CBFV), mean arterial blood pressure (MABP), blood gases and electroencephalogram (EEG) were continuously recorded before, during, and for at least 10 minutes after the administration of surfactant. The measurements were repeated one, three, and six hours later. Left ventricular output (LVO) and ductal patency were assessed 10 minutes before and then one, three, and six hours after surfactant administration. view of this we attempted to determine in a randomised study whether the instillation rate of (Exosurf) will induce acute changes in CBFV, EEG, and cardiovascular haemodynamics including mean arterial blood pressure (MABP), left ventricular output (LVO), and patency of the ductus arteriosus. MethodsThe study was conducted on 27 consecutive newborn infants who had been admitted to the neonatal intensive care unit of the University Hospital, Tours, France. All babies entering the study had severe RDS, as judged by an a/A partial oxygen pressure (Po2) ratio of less than 0-22. The criteria for diagnosing RDS were as follows: tachypnoea (more than 60 breaths/minute), substernal and intercostal recession; grunting and clinical diagnosis supported by radiological appearances. In all babies the lecithin:sphingomyelin (L:S) ratio in the tracheal aspirate was less than 1-5, mean (SD) 1-15 (0-31). The infants were randomly assigned to receive as quickly as possible after birth a synthetic surfactant (Exosurf) either rapidly over a period of five minutes or slowly over a period of 15 minutes. All infants were receiving mechanical ventilation with a fractional inspired oxygen (Fio2) of 60% or more to maintain a transcutaneous carbon dioxide tension (TcPco2) between 5-3 and 6-6 kPa (40 and 50 mm Hg) and a transcutaneous oxygen tension (TcPo2) between 8 and 953 kPa (60 and 70 mm Hg).Surfactant studies were begun when the infants were less than 12 hours old. After endotracheal suctioning surfactant was administered via the sideport on the special endotracheal tube adaptor without interrupting mechanical ventilation. During surfactant instillation, Fio2 was increased so that the arterial oxygen saturation (Sao2) (Datex; pulse oximeter) remained within clinically accepted limits (95-97%). The newborns were not hyperventilated. In the rapid instillation group a 5 mI/kg dose of surfactant was administered by bolus injection over five minutes. Surfactant was instilled in small bursts timed with inspiration, the infant's head being in the midline. In the slow instillation group the surfactant was given manually over 15 minutes, with the babies lying supine and the head in middle position. All infants received an additional dose 12 hours later. Only the effects ofthe first dose were studied. None of the infants was sedated nor were they paralysed. Consent for the investigation was obtained from the ...