DOI: https://doi.org/10.22263/2312-4156.2021.6.118
Biardouskaya H.M.1, Miklash N.V.2, Yakhimchyk H.I.2, Motyuk I.M.3
Barth’s syndrome: brief review and clinical case
1Grodno State Medical University, Grodno, Republic of Belarus
2Grodno Children’s Regional Clinical Hospital, Grodno, Republic of Belarus
3Grodno Regional Clinical Perinatal Center, Grodno, Republic of Belarus
Vestnik VGMU. 2021;20(6):118-125.
Abstract.
The article describes a rare progressive disease of the cardiovascular system, hereditary mitochondrial pathology – Barth’s syndrome (3-methylglutacone aciduria type 2). A list of diseases for the differential diagnosis is given. A case of clinical observation of Barth’s syndrome is considered. In the presented case, the disease manifested itself at the age of up to one year and was characterized by the signs of heart failure, muscle hypotension, and a decrease in the number of neutrophils in the peripheral blood. The child was repeatedly observed in the hospital, received treatment with an inhibitor of an angio-converting enzyme, digoxin, acetylsalicylic acid, was consulted by a geneticist. A splicing mutation was revealed in the 3rd exon of the taphazin gene. The combination in the clinical picture of the signs of heart failure, muscle hypotension, protein-energy insufficiency, neutropenia, onset in the first year of life, a decrease in the contractility of the left ventricular myocardium, an increase in the size of the heart and a decrease in its contractility gave rise to suspicion of this disease. Barth’s syndrome was confirmed by genetic testing.
Key words: children, myocardiopathy, diagnosis, heart failure, neutropenia, taphazin gene mutation, treatment.
Acknowledgements. We are thankful to the reviewer for critical reading of the manuscript.
The authors express their deep gratitude to the leading research officer of the Institute of Genetics and Cytology of the National Academy of Sciences of Belarus, Candidate of Biological Sciences Sivitskaya L.N. for rendering assistance in the examination of the patient.
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Information about authors:
Biardouskaya H.M. – Candidate of Medical Sciences, associate professor of the Chair of Childhood Diseases No. 2, Grodno State Medical University;
Miklash N.V. – cardiologist, Grodno Children’s Regional Clinical Hospital;
Yakhimchyk H.I. – functional diagnostics doctor, Grodno Children’s Regional Clinical Hospital;
Motyuk I.M. – geneticist of the department of medical and genetic dagnostics, Grodno Regional Clinical Perinatal Center.
Correspondence address: Republic of Belarus, 230009, Grodno, 80 Gorky str., Grodno State Medical University, Chair of Childhood Diseases No. 2. E-mail: Этот адрес электронной почты защищён от спам-ботов. У вас должен быть включен JavaScript для просмотра. – Hanna M. Biardouskaya.
