Barth syndrome: Difference between revisions
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{{Infobox_Disease | | {{Infobox_Disease | | ||
Name = Barth syndrome | | Name = Barth syndrome | | ||
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==Overview== | ==Overview== | ||
'''Barth syndrome''' ('''BTHS'''), also known as '''3-Methylglutaconic aciduria type II''' and '''Cardiomyopathy-neutropenia syndrome''' is a rare [[genetic disorder]] classified by many signs and symptoms, including [[metabolism]] distortion, delayed [[motor skills]], stamina deficiency, [[hypotonia]], chronic fatigue, delayed growth, [[cardiomyopathy]], and compromised immune system. | '''Barth syndrome''' ('''BTHS'''), also known as '''3-Methylglutaconic aciduria type II''' and '''Cardiomyopathy-neutropenia syndrome''' is a rare [[genetic disorder]] classified by many signs and symptoms, including [[metabolism]] distortion, delayed [[motor skills]], stamina deficiency, [[hypotonia]], chronic fatigue, delayed growth, [[cardiomyopathy]], and compromised immune system. | ||
==Historical Perspective== | |||
==Classification== | |||
==Pathophysiology== | |||
==Causes== | |||
[[Mutations]] in the ''BTHS'' [[gene]] are associated with [[cardiolipin]] molecules in the [[electron transport chain]] and the [[mitochondrial]] membrane structure. The gene is 6,234 bases in length, mRNA of 879 [[nucleotides]], 11 exons/10 introns, and amino acid sequence of 292 with a weight of 33.5 kDa. It is located at Xq28; the long arm of the [[X chromosome]]. Barth Syndrome is caused by 60% [[frameshift]], stop, or [[splice-site]] alterations and 30% change in protein's charge. | |||
==Differentiating {{PAGENAME}} from Other Diseases== | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
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The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery in 1983. He described a [[pedigree chart]], showing that this is an inherited trait. | The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery in 1983. He described a [[pedigree chart]], showing that this is an inherited trait. | ||
== | ==Risk Factors== | ||
[[ | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==AHA Scientific Statement: Management of Cardiac Involvement Associated With Neuromuscular Diseases== | |||
====Cardiac Evaluation in Barth syndrome (BTHS)==== | |||
{| class="wikitable" style="width:80%" | |||
|- | |||
| colspan="1" style="text-align:center; background:LightGreen" |[[ACC AHA guidelines classification scheme#Classification of Recommendations|Class I]] | |||
|- | |||
| bgcolor="LightGreen" |<nowiki>"</nowiki>'''1.''' Boys should be referred to pediatric cardiol- ogy at the time of BTHS diagnosis. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B]])'' <nowiki>"</nowiki> | |||
|- | |||
| bgcolor="LightGreen" |<nowiki>"</nowiki>'''2.''' At least annual cardiology assessment with examination, ECG, echocardiogram, and ambulatory ECG should be performed in boys with BTHS who have evidence of cardiac dys- function or HF. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B]])'' <nowiki>"</nowiki> | |||
|- | |||
| colspan="1" style="text-align:center; background:LemonChiffon" | [[ACC AHA guidelines classification scheme#Classification of Recommendations|Class IIa]] | |||
|- | |||
| bgcolor="LemonChiffon" |<nowiki>"</nowiki>'''1.''' Screening of asymptomatic infants with BTHS by examination, ECG, and echocardiogram every 6 months and ambulatory elec- trocardiographic monitoring every year is reasonable. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])'' <nowiki>"</nowiki> | |||
|- | |||
| bgcolor="LemonChiffon" |<nowiki>"</nowiki>'''2.''' It is reasonable to screen asymptomatic boys with BTHS with examination, ECG, echo- cardiogram, and ambulatory electrocardio- graphic monitoring annually. ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C]])'' <nowiki>"</nowiki> | |||
|} | |||
==Treatment== | |||
===Medical Therapy=== | |||
===Surgery=== | |||
===Prevention=== | |||
== Barth Syndrome Foundation == | ==Barth Syndrome Foundation== | ||
The Barth Syndrome Foundation in the US sponsors International Conferences for affected families attending physicians and scientists every two years. The next BSF Conference is presently in the planning stages for summer or fall of 2008. For more information contact the Barth Syndrome Foundation, Inc. at [http://www.barthsyndrome.org http://www.barthsyndrome.org]. | The Barth Syndrome Foundation in the US sponsors International Conferences for affected families attending physicians and scientists every two years. The next BSF Conference is presently in the planning stages for summer or fall of 2008. For more information contact the Barth Syndrome Foundation, Inc. at [http://www.barthsyndrome.org http://www.barthsyndrome.org]. | ||
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*[http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth+Syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth+Syndrome] | *[http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth+Syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth+Syndrome] | ||
==References== | |||
{{reflist|2}} | |||
[[Category:Endocrinology]] | |||
[[Category: | |||
[[nl:Syndroom van Barth]] | [[nl:Syndroom van Barth]] |
Latest revision as of 22:15, 24 November 2017
WikiDoc Resources for Barth syndrome |
Articles |
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Most recent articles on Barth syndrome Most cited articles on Barth syndrome |
Media |
Powerpoint slides on Barth syndrome |
Evidence Based Medicine |
Clinical Trials |
Ongoing Trials on Barth syndrome at Clinical Trials.gov Trial results on Barth syndrome Clinical Trials on Barth syndrome at Google
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Guidelines / Policies / Govt |
US National Guidelines Clearinghouse on Barth syndrome NICE Guidance on Barth syndrome
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Books |
News |
Commentary |
Definitions |
Patient Resources / Community |
Patient resources on Barth syndrome Discussion groups on Barth syndrome Patient Handouts on Barth syndrome Directions to Hospitals Treating Barth syndrome Risk calculators and risk factors for Barth syndrome
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Healthcare Provider Resources |
Causes & Risk Factors for Barth syndrome |
Continuing Medical Education (CME) |
International |
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Business |
Experimental / Informatics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Barth syndrome | |
OMIM | 302060 |
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DiseasesDB | 29297 |
Overview
Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II and Cardiomyopathy-neutropenia syndrome is a rare genetic disorder classified by many signs and symptoms, including metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system.
Historical Perspective
Classification
Pathophysiology
Causes
Mutations in the BTHS gene are associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. The gene is 6,234 bases in length, mRNA of 879 nucleotides, 11 exons/10 introns, and amino acid sequence of 292 with a weight of 33.5 kDa. It is located at Xq28; the long arm of the X chromosome. Barth Syndrome is caused by 60% frameshift, stop, or splice-site alterations and 30% change in protein's charge.
Differentiating Barth syndrome from Other Diseases
Epidemiology and Demographics
It affects at least one hundred families worldwide. Family members of the Barth Syndrome Foundation and its affiliates live in the US, Canada, the UK, Europe, Japan, South Africa, Kuwait, Australia. The syndrome is believed to be severely under-diagnosed and estimated to occur in 1 out of approximately 200,000 births.
The Syndrome was named after Dr. Peter Barth in the Netherlands for his research and discovery in 1983. He described a pedigree chart, showing that this is an inherited trait.
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
AHA Scientific Statement: Management of Cardiac Involvement Associated With Neuromuscular Diseases
Cardiac Evaluation in Barth syndrome (BTHS)
Class I |
"1. Boys should be referred to pediatric cardiol- ogy at the time of BTHS diagnosis. (Level of Evidence: B) " |
"2. At least annual cardiology assessment with examination, ECG, echocardiogram, and ambulatory ECG should be performed in boys with BTHS who have evidence of cardiac dys- function or HF. (Level of Evidence: B) " |
Class IIa |
"1. Screening of asymptomatic infants with BTHS by examination, ECG, and echocardiogram every 6 months and ambulatory elec- trocardiographic monitoring every year is reasonable. (Level of Evidence: C) " |
"2. It is reasonable to screen asymptomatic boys with BTHS with examination, ECG, echo- cardiogram, and ambulatory electrocardio- graphic monitoring annually. (Level of Evidence: C) " |
Treatment
Medical Therapy
Surgery
Prevention
Barth Syndrome Foundation
The Barth Syndrome Foundation in the US sponsors International Conferences for affected families attending physicians and scientists every two years. The next BSF Conference is presently in the planning stages for summer or fall of 2008. For more information contact the Barth Syndrome Foundation, Inc. at http://www.barthsyndrome.org.
See slso
- 3-Methylglutaconic aciduria
- noncompaction cardiomyopathy: mutations to the affected genes in Barth syndrome are also present here.
External links
- http://www.barthsyndrome.org/ Barth Syndrome Foundation, headed by Shelley Bowen
- NINDS
- http://www.csun.edu/~hcbio033/barth.html
- http://www.hopkinsmedicine.org/cmsl/Barth_Summary.html
- http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Barth+Syndrome