Ventricular Arrhythmia in the X-linked Cardiomyopathy Barth Syndrome

Spencer, Carolyn T.; Byrne, Barry J.; Gewitz, Michael H.; Wechsler, Stephanie Burns; Kao, Andrew; Gerstenfeld, Edward P.; Merliss, Andrew; Carboni, Michael P.; Bryant, Randall M.

doi:10.1007/s00246-005-0873-z

Cited by 66 publications

(76 citation statements)

References 19 publications

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“…Recognized reasons for unequal transmission from parents include effects mediated via the sex chromosomes, parental imprinting of autosomal genes, or transmission through mitochondrial DNA. [23][24][25] However, the observed difference in paternal versus maternal ER transmission was not statistically significant. Further confirmation of this finding is required before definitive conclusions can be drawn.…”

Section: Figurementioning

confidence: 72%

Heritability of Early Repolarization

Reinhard

Kaess

Debiec

et al. 2011

Circ Cardiovasc Genet

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Background-Early repolarization (ER), defined by J-point elevation in 12-lead ECG, was recently associated with increased risk for idiopathic ventricular fibrillation and cardiovascular mortality. The determinants of ER are unknown. We investigated its heritability in a large, family-based cohort. Methods and Results-The study sample comprised 1877 individuals from 505 white nuclear families representative of the British general population. Standard 12-lead ECGs were evaluated for the presence of ER, defined as J-point elevation of Ն0.1 mV in at least 2 adjacent inferior (II, III, and aVF) or anterolateral (I, aVL, and V 4 through V 6 ) leads. Narrow sense heritability estimates were computed adjusting for age, age 2 , and sex. The prevalence of ER was 7.7% (nϭ145) in the whole cohort, 5.9% (nϭ56) in parents, and 9.6% (nϭ89)

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Section: Figurementioning

confidence: 72%

Heritability of Early Repolarization

Reinhard

Kaess

Debiec

et al. 2011

Circ Cardiovasc Genet

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“…55 Supraventricular and ventricular tachycardia resulting in sudden death have been reported in adolescents and young adults with only mildly decreased LVEF. 64 A history of syncope or orthostatic symptoms, as well as a family history of sudden death, may be predisposing factors.…”

Section: Myofibrillar Myopathymentioning

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

210

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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“…1,3,4 Some patients have required cardiac transplantation. 5 Sudden cardiac death 5 and ventricular arrhythmia (VA) 6 have been reported. Other features include neutropenia, which may be present at birth and often is cyclic.…”

mentioning

confidence: 99%

Cardiac and Clinical Phenotype in Barth Syndrome

Spencer¹,

et al. 2006

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Our cohort demonstrated clinical variability, but most had cardiomyopathy and diminished growth velocity, with a propensity toward neutropenia and low cholesterol. There was increased incidence of ventricular arrhythmia, predominantly in adolescents and young adults. Barth syndrome should be considered when boys present with cardiomyopathy, especially when associated with increased left ventricular trabeculations, neutropenia, skeletal muscle weakness, or family history indicating an X-linked pattern of inheritance.

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Ventricular Arrhythmia in the X-linked Cardiomyopathy Barth Syndrome

Cited by 66 publications

References 19 publications

Heritability of Early Repolarization

Heritability of Early Repolarization

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

Cardiac and Clinical Phenotype in Barth Syndrome

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