Left Ventricular Noncompaction Cardiomyopathy in Barth Syndrome: An Example of an Undulating Cardiac Phenotype Necessitating Mechanical Circulatory Support as a Bridge to Transplantation

Hanke, Samuel P.; Gardner, Aimee; Lombardi, John; Manning, Peter B.; Nelson, David P.; Towbin, Jeffrey A.; Jefferies, John L.; Lorts, Angela

doi:10.1007/s00246-012-0258-z

Cited by 41 publications

(32 citation statements)

References 13 publications

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“…R correlations were considered very strong if greater than or equal to 0. Student's t-tests were used to determine the significance of manual and handheld dynamometry strength testing between cases and control values and fatigue measurements (as measured by the Borg scale) between younger subjects (ages [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] and older subjects (ages 20-32). Differences were considered significant if the P value was less than or equal to 0.05.…”

Section: Discussionmentioning

confidence: 99%

New targets for monitoring and therapy in Barth syndrome

Thompson

DeCroes

McClellan

et al. 2016

Genetics in Medicine

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Section: Discussionmentioning

confidence: 99%

New targets for monitoring and therapy in Barth syndrome

Thompson

DeCroes

McClellan

et al. 2016

Genetics in Medicine

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“…[334][335][336][337][338][339] These reports acknowledge that perioperative risk is likely to be higher than in the general population because of concomitant skeletal muscle weakness or restrictive lung disease. [334][335][336][337][338][339] Before durable MCS placement, careful consideration must also be given to how atypical thoracic anatomy attributable to kyphoscoliosis in some NMDs might impact device selection and positioning, as well as the potential need for invasive pulmonary support with tracheostomy and reliable delivery of nutrition via permanent gastrostomy tube after durable MCS placement. Finally, the significant burden that outpatient MCS places on caregivers should be contemplated before placement.…”

Section: End-stage Hfmentioning

confidence: 99%

“…340 However, cases of successful heart transplantation have been reported for patients with BMD, LGMD, EDMD, BTHS, and DM, in which cardiomyopathy can be disproportionally severe relative to skeletal and respiratory muscle impairment. 60,337,[341][342][343][344][345][346][347] The use of home inotropic support can be considered in patients with end-stage HF who are not candidates for MCS or heart transplantation. The use of home inotropic therapy might be an option for some patients with end-stage HF who are not candidates for other therapies, because this approach can alleviate symptoms and allow for hospital discharge.…”

Section: End-stage Hfmentioning

confidence: 99%

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

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211

195

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For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease-specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic. In this statement, we provide background on several NMDs in which there is cardiac involvement, highlighting unique features of NMD-associated myocardial disease that require clinicians to tailor their approach to prevention and treatment of heart failure. Undoubtedly, further investigations are required to best inform future guidelines on NMD-specific cardiovascular health risks, treatments, and outcomes. N euromuscular diseases (NMDs) encompass a broad spectrum of diagnoses with overlapping but distinct phenotypes. Common to many NMDs is cardiac involvement. Although the past 3 decades have seen marked advances in our understanding of many NMDs, significant gaps in knowledge remain on how best to approach cardiac care in these patients. For example, survival in Duchenne muscular dystrophy (DMD) has been extended through the use of glucocorticoid use and respiratory support, yet cardiac complications remain a significant cause of morbidity and mortality.1-3 To achieve further gains in care, we will need to improve our understanding of the pathophysiologies driving cardiac involvement in NMDs and advance treatments aimed at preventing the progression of heart failure (HF) and sudden death in NMDs. The recently published findings of an expert working group on cardiac involvement in DMD, which outlined key gaps in knowledge and made specific recommendations aimed at improving diagnosis and management, are a step toward this goal. 4 In this statement, we include a comprehensive overview of the major categories of NMDs with cardiac involvement. For each, a brief background of the gene defect(s), common clinical manifestations (particularly cardiac findings), and current therapies is summarized. Gaps in knowledge are highlighted, and where possible, clinical treatment suggestions are made by the expert writing group appointed by the American Heart Association to review the available literature. Selection of the writing group was performed in accordance with the American Heart Association's conflict-of-interest management policy. Participants volunteered to write sections relevant to their expertise and experience. CLINICAL STATEMENTS AND GUIDELINESconducted a general search of the literature, restricted to human subjects research published between 1980 and 2016. Drafts of each section were written and sent to the chair of the writing group for incorporation into a single document, which was then edited. The edited document was discussed electron...

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“…These include antioxidants, a diet supplemented with specific amino acids, and granulocyte colony stimulating factor (GCSF) to treat neutropenia. Patients with BTHS may develop progressive heart failure and require mechanical circulatory support and cardiac transplantation [9]. An acute decline in health from a stable status to a life-threatening crisis can occur with little warning so that patients and their families live in a constant state of anxiety.…”

Section: Introductionmentioning

confidence: 99%

“…An acute decline in health from a stable status to a life-threatening crisis can occur with little warning so that patients and their families live in a constant state of anxiety. Developing effective therapies for BTHS continues to be a challenge, especially because of the limited number of patients, extraordinary phenotypic variability, and unpredictable clinical course [9–11]. …”

Section: Introductionmentioning

confidence: 99%

The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome

Huang

Powers

Moore

et al. 2017

Orphanet J Rare Dis

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BackgroundThe PGC-1α/PPAR axis has been proposed as a potential therapeutic target for several metabolic disorders. The aim was to evaluate the efficacy of the pan-PPAR agonist, bezafibrate, in tafazzin knockdown mice (TazKD), a mouse model of Barth syndrome that exhibits age-dependent dilated cardiomyopathy with left ventricular (LV) dysfunction.ResultsThe effect of bezafibrate on cardiac function was evaluated by echocardiography in TazKD mice with or without beta-adrenergic stress. Adrenergic stress by chronic isoproterenol infusion exacerbates the cardiac phenotype in TazKD mice, significantly depressing LV systolic function by 4.5 months of age. Bezafibrate intake over 2 months substantially ameliorates the development of LV systolic dysfunction in isoproterenol-stressed TazKD mice. Without beta-adrenergic stress, TazKD mice develop dilated cardiomyopathy by 7 months of age. Prolonged treatment with suprapharmacological dose of bezafibrate (0.5% in rodent diet) over a 4-month period effectively prevented LV dilation in mice isoproterenol treatment. Bezafibrate increased mitochondrial biogenesis, however also promoted oxidative stress in cardiomyocytes. Surprisingly, improvement of systolic function in bezafibrate-treated mice was accompanied with simultaneous reduction of cardiolipin content and increase of monolysocardiolipin levels in cardiac muscle.ConclusionsThus, we demonstrate that bezafibrate has a potent therapeutic effect on preventing cardiac dysfunction in a mouse model of Barth syndrome with obvious implications for treating the human disease. Additional studies are needed to assess the potential benefits of PPAR agonists in humans with Barth syndrome.

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Left Ventricular Noncompaction Cardiomyopathy in Barth Syndrome: An Example of an Undulating Cardiac Phenotype Necessitating Mechanical Circulatory Support as a Bridge to Transplantation

Cited by 41 publications

References 13 publications

New targets for monitoring and therapy in Barth syndrome

New targets for monitoring and therapy in Barth syndrome

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome

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