“Saving lives through education,
   advances in treatment, and
finding a cure for Barth syndrome”

John L. Jefferies, MD, MPH, FAAP, FACC, FAHA
Director, Advanced Heart Failure and Cardiomyopathy Services; Associate Professor, Pediatric Cardiology and Adult Cardiovascular Diseases, The Heart Institute; Associate Professor, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

Assessment of quality of life, anxiety, and depression in Barth syndrome: Expanding the scope of comprehensive care

Award—US $28,749 over 2-year period

*Partial funding for this award was provided by Barth Syndrome Trust


Barth Syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid. Although a rare disease, the implications of BTHS on the patient and the family can be devastating. Mortality in BTHS is highest within the first 4 years of life but increasing awareness of the disease and improved treatment strategies have resulted in increased longevity with some patients now living into their late 40s. Most of the clinical focus in BTHS has been directed at improving management of neutropenia and associated risk of infection as well as identification and management of cardiomyopathy and resultant heart failure. But, as previously reported, BTHS patients have impaired health-related quality of life (HRQoL) and we believe, based on our experiences, it is possible to integrate validated surveys into clinical care and use the unique information to enhance the provider’s understanding of the patient’s clinical function and use it for more targeted diagnostic strategies and appropriate therapeutic interventions. Specifically, we propose to study BTHS patient responses on a range of patient reported outcomes (PROs) to determine whether their inclusion in a clinical protocol will yield clinical information that can be acted upon by care providers.  They include measures assessing HRQoL affect (depressed mood and anxiety) and a symptom checklist developed exclusively for patients with BTHS syndrome. No such checklist exists currently in BTHS but would be developed as a deliverable for this project.

It is well established that patients with chronic conditions (adult or child) are at increased risk for anxiety and/or depression. Furthermore, affect is associated with undesirable short-term outcomes such as impaired school performance, disrupted social interactions, and medical therapy non-adherence. It has also been shown, in some conditions, to be associated with long-term outcomes such as increased morbidity and mortality.  Finally, there is evidence that clinical treatment may be enhanced by having patients or parents respond to a symptom checklist. With this added information, providers will have a more robust understanding of patient and family needs in BTHS and have the opportunity to use this information to make appropriate management decisions such as referrals to mental health providers. We strongly believe these data will add substantially to our understanding of the BTHS population and facilitate more comprehensive care, and hopefully improved outcomes and quality of life.


Associated Presentations to Date:


BSF 2016 Conference - July 22, 2016

Cardiovascular disease in Barth syndrome: Diagnostic and treatment strategies


BSF 2014 Conference - June 26, 2014

Diagnosis and Management of Cardiovascular Disease in Barth Syndrome


Last Updated: 2016-08-15

Barth Syndrome International


Families of Barth


Meet Connor

Privacy and Disclaimer

Barth Syndrome Foundation does not endorse any drugs, tests, or treatments that we may report.

This website is for informational purposes, always check with your physician before adopting any medical treatment.

© Barth Syndrome Foundation. All rights reserved.
Web Design by Pixelera