Information on BTHS
Basic details
Name: Barth syndrome | Acronym: BTHS
Alt. names: 3-Methylglutaconic aciduria, type II
Gene: TAFAZZIN | MOI: X-linked recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1996
Last updated on: 2023-02-28 16:41:18 by
Description
It is characterized by dilated cardiomyopathy (CMD) with endocardial fibroelastosis (EFE), a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Features of the disease that are less well known include hypertrophic cardiomyopathy, isolated left ventricular noncompaction (LVNC), ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood (summary by Steward et al., 2010). [OMIM]
Management
Surveillance for cardiomyopathy and early medical treatment may reduce morbidity; in some individuals, early cardiac transplant may be necessary; Individuals can also have neutropenia, and prophylaxis against infections, with early and aggressive management of infections may be beneficial.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Dilated cardiomyopathy |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Failure to thrive |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Neutropenia |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | 3-Methylglutaconic aciduria |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Skeletal myopathy |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 6 | Broad forehead |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Cyclic neutropenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Deeply set eye |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Exercise intolerance |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Fair hair |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Fatigue |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Full cheeks |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Global developmental delay |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 14 | Gowers sign |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 15 | Growth delay |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | High forehead |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Hypertrophic cardiomyopathy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Hypochromic microcytic anemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Increased left ventricular end-diastolic volume |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 20 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 21 | Macrotia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 22 | Motor delay |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 23 | Myopathic facies |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 24 | Pointed chin |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 25 | Recurrent bronchitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 26 | Round face |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 27 | Tricuspid Valve Insufficiency |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.