Risk factors for development of AS attacks and HF in patients with CCAVB include: (i) maximum HR < 74 bpm in neonates, <68 bpm up to the age of 8 and <62 bpm at ages above 8, (ii) daytime HR <58 bpm in neonates and < 52 bpm till the age of 8, and (iiii) abrupt pauses in ventricular rate that are at least twice the basic cycle length after the neonatal period.
Alström syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, cardiomyopathy, progressive renal and hepatic dysfunction, and endocrinological features such as severe insulin resistance, type 2 diabetes, hyperlipidemia, and hypogonadism. Widespread fibrosis leads to multiple organ failure. Mutations in ALMS1 cause Alström’s syndrome. Two age-matched, unrelated adolescent males of Serbian descent with Alström syndrome underwent an extensive workup of blood chemistries, and ophthalmological, audiological, and genetic evaluations. Although both showed typical features of Alström syndrome in childhood, several differences were observed that have not been reported previously. Patient 1 was first studied at the age of 13 years for multisystemic disease and re-evaluated at the age of 15.5 years. Patient 2 is a 15-year-old boy who presented at birth with epilepsy and psychomotor developmental delay and generalized tonic–clonic seizures with severe cognitive impairment, features not documented previously in this syndrome. Sequencing analysis indicated two novel ALMS1 mutations in exon 8: p.E1055GfsX4 and p.T1386NfsX15. Metabolic and physiological similarities were observed in both patients, including severe insulin resistance, and truncal obesity with fat loss suggestive of partial lipodystrophy, supporting evidence for a role for ALMS1 in adipose tissue function. The unusual phenotypes of clonic–tonic seizures and severe cognitive abnormalities and lipodystrophy-like adiposity pattern have not been documented previously in Alström syndrome and may be an under-reported abnormality.
We have reviewed our experience with a low-bandwidth paediatric telecardiology link (using ISDN at 128 kbit/s) between a tertiary centre in Belgrade and a tertiary centre in London. Over a two-year period, 12 videoconferences were held, during which 40 case histories of 38 patients were presented from Belgrade. The patients were aged 7 days to 20 years, and most of them had complex congenital heart defects. Changes in diagnosis and/or therapy occurred in 21 cases. Clinically relevant changes in diagnosis occurred in 2/40 cases (5%). In 12 cases, there were slight differences in opinion which resulted in minor changes in therapy for 9 of the patients. In another 9 patients, major changes in therapy occurred. There were no major problems with the quality of image and sound in any of the videoconferences. Our experience suggests that when there are experienced paediatric cardiologists at both ends of the connection, transmission via a single ISDN line is safe and accurate.
Our initial experience demonstrates that administration of levosimendan in patients with severe chronic heart failure not responsive to standard intravenous inotropic treatment might result in a significant clinical and hemodynamic improvement and that, in selected patients, it might be life saving. According to our best knowledge patients presented are the first pediatric patients treated with levosimendan in our country.
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