Barth syndrome

Classification according to ICD-10
E71.1	Other disorders of the metabolism of branched amino acids
ICD-10 online (WHO version 2019)

The Barth syndrome or 3 Methylglutaconazidurie type 2 is a very rare congenital , to the 3-Methylglutaconazidurien associated metabolic disorder of phospholipids with the main features of a dilated cardiomyopathy and skeletal muscle -Myopathie, a neutropenia , growth retardation and Methylglutaconazidurie.

Synonyms are: BTHS; Cardioskeletal Myopathy - Neutropenia, X-Linked; Cardioskeletal myopathy-neutropenia syndrome; MGA2; X-linked cardioskeletal myopathy and neutropenia

The name refers to the first author of the first description from 1981 by the Dutch neuropediatrist Peter G. Barth and colleagues.

An earlier report from 1979 by HB Neustein may already describe the same clinical picture.

distribution

The frequency is given as 1 in 300,000 to 400,000, inheritance is X-linked - recessive .

root cause

The disease are mutations in the TAZ - gene in the X chromosome on locus q28 based encoding the Taz1p acyltransferase that the cardiolipin is involved -Metabolism.

Clinical manifestations

Clinical criteria are:

possibly already in utero heart failure , hydrops fetalis or miscarriage
Onset of illness usually during the first year of life
Endocardial fibroelastosis and / or non-compaction cardiomyopathy
Sudden cardiac death due to ventricular arrhythmia
mostly proximal skeletal muscle weakness
Propensity to hypoglycemia in the newborn
in 90% neutropenia with a tendency to septicemia , severe sepsis

Repeated diarrhea and facial abnormalities with a chubby face, deep-set eyes and large ears are also common.

diagnosis

The diagnosis was originally based on the detection of the increased urinary excretion of 3-methylglutaconic acid with subsequent DNA sequencing .

Since the methylglutaconic acid is often not increased, the ratio of monolysocardiolipin (MLCL) to cardiolipin (CL) is being tested today.

Differential diagnosis

The following are to be distinguished:

congenital cardiomyopathies
idiopathic neutropenia .

therapy

If left untreated, those affected die in childhood.

literature

J. Dudek, IF Cheng, A. Chowdhury, K. Wozny, M. Balleininger, R. Reinhold, S. Grunau, S. Callegari, K. Toischer, RJ Wanders, G. Hasenfuß, B. Brügger, K. Guan, P. Rehling: Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome. In: EMBO molecular medicine. Vol. 8, No. 2, February 2016, pp. 139–154, doi: 10.15252 / emmm.201505644 , PMID 26697888 , PMC 4734842 (free full text).
J. Finsterer, M. Frank: Haematological features in Barth syndrome. In: Current opinion in hematology. Vol. 20, No. 1, January 2013, pp. 36-40, doi: 10.1097 / MOH.0b013e32835a01d9 , PMID 23041719 (Review).
SL Clarke, A. Bowron, IL Gonzalez, SJ Groves, R. Newbury-Ecob, N. Clayton, RP Martin, B. Tsai-Goodman, V. Garratt, M. Ashworth, VM Bowen, KR McCurdy, MK Damin, CT Spencer, MJ Toth, RI Kelley, CG Steward: Barth syndrome. In: Orphanet Journal of Rare Diseases. Vol. 8, February 2013, p. 23, doi: 10.1186 / 1750-1172-8-23 , PMID 23398819 , PMC 3583704 (free full text) (review). https://ojrd.biomedcentral.com/track/pdf/10.1186/1750-1172-8-23?site=ojrd.biomedcentral.com

Individual evidence

↑ ^a ^b ^c ^d ^e Barth syndrome. In: Orphanet (Rare Disease Database).
↑ PG Barth, ET Van't Veer-Korthof, L. Van Delden et al .: An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes . In: HFM Busch, FGI Jennekens, HR Schotte (editor): Mitochondria and Muscular Diseases. Beetsterzwaag, The Netherlands: 1981, pp. 161-164.
^ HB Neustein, PR Lurie, B. Dahms, M. Takahashi: An X-linked recessive cardiomyopathy with abnormal mitochondria. In: Pediatrics. Vol. 64, No. 1, July 1979, pp. 24-29, PMID 572031 .
↑ ^a ^b P. G. Barth, HR Scholte, JA Berden, JM Van der Klei-Van Moorsel, IE Luyt-Houwen, ET Van 't Veer-Korthof, JJ Van der Harten, MA Sobotka-Plojhar: An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. In: Journal of the neurological sciences. Vol. 62, No. 1-3, December 1983, pp. 327-355, PMID 6142097 .
^ Genetics Home Reference
↑ Barth syndrome. In: Online Mendelian Inheritance in Man . (English).

Web links

[Orpha-1] Barth syndrome. In: Orphanet (Rare Disease Database).

[2] PG Barth, ET Van't Veer-Korthof, L. Van Delden et al .: An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes . In: HFM Busch, FGI Jennekens, HR Schotte (editor): Mitochondria and Muscular Diseases. Beetsterzwaag, The Netherlands: 1981, pp. 161-164.

[3] HB Neustein, PR Lurie, B. Dahms, M. Takahashi: An X-linked recessive cardiomyopathy with abnormal mitochondria. In: Pediatrics. Vol. 64, No. 1, July 1979, pp. 24-29, PMID 572031 .

[Barth83-4] P. G. Barth, HR Scholte, JA Berden, JM Van der Klei-Van Moorsel, IE Luyt-Houwen, ET Van 't Veer-Korthof, JJ Van der Harten, MA Sobotka-Plojhar: An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. In: Journal of the neurological sciences. Vol. 62, No. 1-3, December 1983, pp. 327-355, PMID 6142097 .

[5] Genetics Home Reference

[6] Barth syndrome. In: Online Mendelian Inheritance in Man . (English).