Novel mutations in the TAZ gene in patients with Barth syndrome.

Barth syndrome is an X-linked recessive disorder that is caused by mutations in Taffazin gene (TAZ), leading to severe cardiolipin deficiency which results in respiratory chain dysfunction. Barth syndrome is characterized by cardiomyopathy, neutropenia, skeletal myopathy, growth deficiency and 3-methylglutaconic aciduria. In this paper, we present clinical, biochemical and molecular data of the first four Czech patients from four unrelated families diagnosed with this rare disease. The mean age of onset was 5.5 ± 3.8 months. One child suffered from sudden cardiac death at the age of 2 years, the age of living patients is between 3 and 13 years. Muscle hypotonia was present in all four patients; cardiomyopathy and growth retardation in three and neutropenia in two of them. Two patients manifested a dilated and one patient a hypertrophic cardiomyopathy. A characteristic laboratory abnormality was the intermittently increased excretion of 3-methylglutaconic acid. Three novel hemizygous mutations in the TAZ gene were found (c.584G>T; c.109+6T>C; c.86G>A). We conclude that Barth syndrome should be included in differential diagnosis of cardiomyopathy in childhood, especially in the cooccurrence of dilated cardiomyopathy and 3-methylglutaconic aciduria.

[Use of aldactone-saltucine in patients with heart failure]. / Primenenie al'dakton-sal'tutsina u bol'nykh s serdechnoi nedostatochnost'iu

Aldactone-saltucine was used in 52 patients with Stage IIB-III cardiac failure. The efficiency of the drug was evaluated by the dynamics of the clinical course, diuresis, body weight, blood and urine levels of electrolytes, and in some patients by the urine excretion of aldosterone. Aldactone-saltucine is a sufficiently effective diuretic agent that, without producing excessively fast diuresis, exerts after a course of therapy a beneficial effect, increasing mainly natriuresis, without concomitant hypokalemia. The diuretic effect of the drug ensued irrespectful of the initial level of urine aldosterone excretion. After a course of treatment urine aldosterone excretion tended to increase. Hyperaldosteronuria was noted in only 1/3 of the patients.