Cardiac and Clinical Phenotype in Barth Syndrome

Spencer, Carolyn T.; Bryant, Randall M.; Day, Jane; Gonzalez, Iris L.; Colan, Steven D.; Thompson, William; Berthy, Julie; Redfearn, Sharon; Byrne, Barry J.

doi:10.1542/peds.2005-2667

Cited by 197 publications

(267 citation statements)

References 39 publications

(49 reference statements)

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“…Training improvements in BTHS however were not as great as those seen in other conditions that share characteristics as BTHS. Endurance exercise induced adaptation might be blunted in BTHS due to the more severe cardiac involvement and homogenous mitochondrial alterations in BTHS compared to other mitochondrial myopathies (Spencer et al 2006;Finsterer and Kothari 2014). Randomized clinical trials that examine higher intensity and longer duration interventions of endurance exercise training are needed to determine if endurance exercise training is clearly beneficial in BTHS.…”

Section: Discussionmentioning

confidence: 99%

“…The full scope of the pathological and clinical manifestations of BTHS is not fully understood, but involves a tafazzin gene defect that results in cardiolipin deficiency and severe mitochondrial dysfunction. BTHSassociated mitochondrial dysfunction is assumed to mediate the cardio-skeletal myopathy seen in the majority of those with BTHS (Spencer et al 2006). …”

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confidence: 99%

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Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study

et al. 2016

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Background: Barth syndrome (BTHS) is a rare X-linked disorder that is characterized by mitochondrial abnormalities, cardio-skeletal myopathy, exercise intolerance, and premature mortality. The effect on endurance exercise training on exercise tolerance, cardio-skeletal function, and quality of life in BTHS is unknown.Methods: Four young adults (23 AE 5 years, n ¼ 4) with BTHS participated in a 12-week, supervised, individualized endurance exercise training program. Exercise training was performed on a cycle ergometer for 30-45 0 three times per week at a moderate intensity level.Exercise tolerance was measured by graded exercise testing and peak oxygen consumption, heart function via two-dimensional and M-mode echocardiography, skeletal muscle function by near-infrared spectroscopy, and quality of life through the Minnesota Living with Heart Failure questionnaire.Results: There were no adverse events during exercise testing or training for any participant. Peak oxygen consumption modestly (~5%) improved in three or four participants. Mean quality of life questions regarding dyspnea and side effects from medications significantly improved following exercise training. Mean resting heart function or skeletal muscle oxygen extraction during exercise did not improve after exercise training.Conclusion: Endurance exercise training is safe and appears to modestly improve peak exercise tolerance and certain measures of quality of life in young adults with BTHS. However, compared to improvements resulting from endurance exercise training seen in other non-BTHS mitochondrial myopathies and heart failure, these improvements appear blunted. Further research into the most beneficial mode, intensity and frequency of exercise training in BTHS is warranted.Barth syndrome (BTHS) is an X-linked disorder that results in cardio-skeletal myopathy, heart failure, fatigue, chronic/ cyclic neutropenia, growth delay, and premature mortality (Barth et al. 1983). The full scope of the pathological and clinical manifestations of BTHS is not fully understood, but involves a tafazzin gene defect that results in cardiolipin deficiency and severe mitochondrial dysfunction. BTHSassociated mitochondrial dysfunction is assumed to mediate the cardio-skeletal myopathy seen in the majority of those with BTHS (Spencer et al. 2006).

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confidence: 99%

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Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study

et al. 2016

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“…It is characterized by cardiomyopathy, neutropenia, skeletal myopathy, and growth retardation (plus frequent striking catch-up growth during adolescence) (1)(2)(3)(4)(5)(6)(7). Other biochemical characteristics include 3-methylglutaconic, 3-methylglutaric, and 2-ethylhydracrylic aciduria (1,2,6,8 ), low cholesterol (6,7 ), and abnormal mitochondria (7,9,10 ). Mutations in the tafazzin gene (TAZ 5 previously known as G4.5) (11 ) cause BTHS.…”

Section: Barth Syndrome (Bths)mentioning

confidence: 99%

Bloodspot Assay Using HPLC–Tandem Mass Spectrometry for Detection of Barth Syndrome

et al. 2008

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“…Sudden cardiac death and ventricular arrhythmia have been reported. Cardiomyopathy can be apparent at birth, or even in utero, but mostly develops within the first year of life (Cardonick et al 1997;Spencer et al 2006). Exercise intolerance due to cardiac problems in combination with skeletal myopathy is common.…”

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Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

et al. 2015

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Barth syndrome is known as a highly recognizable X-linked disorder typically presenting with the three hallmarks: (left ventricular non-compaction) cardiomyopathy, neutropenia, and 3-methylglutaconic aciduria. Furthermore, growth retardation, mild skeletal myopathy, and specific facial features as well as mitochondrial dysfunction in muscle are frequently seen. Underlying mutations are found in TAZ and lead to defective cardiolipin remodeling.Here, we report atypical clinical manifestations of TAZ mutations in two male patients initially presenting with growth retardation and very mild skeletal myopathy. As other phenotypic hallmarks were missing, Barth syndrome had not been suspected in these patients. One of them has been incidentally diagnosed in the frame of an in-depth cardiolipin research analysis, while the underlying genetic defect was unexpectedly identified in the second one by exome sequencing.Conclusion: These cases underline that TAZ mutations might well be an underdiagnosed cause of skeletal myopathy and growth retardation and do not necessarily manifest with the full clinical picture of Barth syndrome.

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Cardiac and Clinical Phenotype in Barth Syndrome

Cited by 197 publications

References 39 publications

Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study

Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study

Bloodspot Assay Using HPLC–Tandem Mass Spectrometry for Detection of Barth Syndrome

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

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