case report barth syndrome patient with aml

What are the diagnostic criteria for Barth syndrome?

Formal clinical diagnostic criteria for Barth syndrome have not been established. Barth syndrome is an X-linked condition in which heterozygous females typically do not express clinical or biochemical features, although rare instances of affected females have been reported.

What is the role of AAV in the treatment of Barth syndrome?

Suzuki-Hatano S, Saha M, Rizzo SA, et al. AAV-mediated TAZ gene replacement restores mitochondrial and cardioskeletal function in Barth syndrome. Hum Gene Ther. 2019; 30 :139–154. doi:10.1089/hum.2018.020 [ PMC free article] [ PubMed] [ CrossRef] [ Google Scholar] [ Ref list]

Is Barth syndrome inherited X-linked?

Barth syndrome is inherited in an X-linked manner. The father of an affected male will not have the disorder nor will he be hemizygous for the TAFAZZIN (formerly TAZ) pathogenic variant; therefore, he does not require further evaluation/testing.

How is Barth syndrome (Barl syndrome) treated?

Treatment is symptomatic and directed toward treating heart failure, arrhythmias, neutropenia, and mitochondrial myopathy. Conclusions: Although Barth syndrome is still an orphan disease, with fewer than 200 cases described so far, there is extensive ongoing research with regard to its pathomechanism and new therapeutic approaches.

Abstract

Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by clinical features including cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and exercise intolerance.

Introduction

Barth syndrome (BTHS) is a rare X-linked recessive condition, first described by Peter Barth in 1983, with the classic triad of cardiomyopathy, skeletal myopathy, and neutropenia.

Case presentation

A 27-year-old man presented to the emergency room with complaints of lightheadedness, dyspnoea, orthopnoea, and bilateral lower extremity oedema over the course of a few weeks. His symptoms were associated with chest discomfort and he denied similar past episodes. He had no significant past medical history.

Discussion

BTHS is a rare X-linked recessive condition, with <200 living males worldwide, caused by disabling mutations or deletions in the TAZ gene.

Lead author biography

Shiavax Rao is a resident physician at the MedStar Health Internal Medicine Residency Program in Baltimore, Maryland (USA). He graduated with his M.D. degree from Saba University School of Medicine. Following residency training, he is interested in pursuing a fellowship in Cardiovascular Disease.

Supplementary material

Supplementary material is available at European Heart Journal - Case Reports online.

Abstract

Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male.

Diagnosis

Formal clinical diagnostic criteria for Barth syndrome have not been established.

Differential Diagnosis

Disorders in which excretion of 3-methylglutaconate is increased. Increased urinary excretion of the branched-chain organic acid 3-methylglutaconate (3-MGC) is a relatively common finding in children investigated for suspected inborn errors of metabolism [ Gunay-Aygun 2005 ].

Management

Consensus clinical management recommendations for Barth syndrome have not been published.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, mode (s) of inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.

Resources

GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. — ED.