Clinical Presentations of Mitochondrial Cardiomyopathies

Lev, Dorit; Nissenkorn, Andreea; Leshinsky‐Silver, Esther; Sadeh, Menachem; Zeharia, Avraham; Bz, Garty; Blieden, Leonard C.; Barash, V.; Lerman‐Sagie, Tally

doi:10.1007/s00246-003-0490-7

Cited by 68 publications

(59 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A variety of defects in mitochondrial oxidative phosphorylation have been described in both hypertrophic and dilated cardiomyopathy [97,98]. In some cases, dilated cardiomyopathy merely reflects a final common pathway of pump failure arising from many different causes, including hypertrophic cardiomyopathies.…”

Section: Cardiac Muscle Analysismentioning

confidence: 99%

The in-depth evaluation of suspected mitochondrial disease

Haas

Parikh

Falk

et al. 2008

Molecular Genetics and Metabolism

313

300

View full text Add to dashboard Cite

Mitochondrial disease confirmation and establishment of a specific molecular diagnosis requires extensive clinical and laboratory evaluation. Dual genome origins of mitochondrial disease, multiorgan system manifestations, and an ever increasing spectrum of recognized phenotypes represent the main diagnostic challenges. To overcome these obstacles, compiling information from a variety of diagnostic laboratory modalities can often provide sufficient evidence to establish an etiology. These include blood and tissue histochemical and analyte measurements, neuroimaging, provocative testing, enzymatic assays of tissue samples and cultured cells, as well as DNA analysis. As interpretation of results from these multifaceted investigations can become quite complex, the Diagnostic Committee of the Mitochondrial Medicine Society developed this review to provide an overview of currently available and emerging methodologies for the diagnosis of primary mitochondrial disease, primarily focusing on disorders characterized by impairment of oxidative phosphorylation. The aim of this work is to facilitate the diagnosis of mitochondrial disease by geneticists, neurologists, and other metabolic specialists who face the challenge of evaluating patients of all ages with suspected mitochondrial disease.

show abstract

Section: Cardiac Muscle Analysismentioning

confidence: 99%

The in-depth evaluation of suspected mitochondrial disease

Haas

Parikh

Falk

et al. 2008

Molecular Genetics and Metabolism

313

300

View full text Add to dashboard Cite

show abstract

“…Não devemos esquecer que a cardiomiopatia decorrente de erro inato do metabolismo não se apresenta apenas na forma dilatada, sendo possível na forma hipertrófica familiar, como demonstra o relato de Lev et al 20 . Entretanto, a cardiomiopatia hipertrófica cursa com estado nutricional adequado.…”

Section: Discussionunclassified

The role of L-carnitine in nutritional status and echocardiographic parameters in idiopathic dilated cardiomyopathy in children

Azevedo¹,

Filho²,

Santos³

et al. 2005

J Pediatr (Rio J)

View full text Add to dashboard Cite

Objectives: Malnutrition is an independent predictor of death in idiopathic dilated cardiomyopathy. An analysis was performed of the impact of L-carnitine supplementation on the nutritional status and echocardiogram parameters of children with idiopathic dilated cardiomyopathy. Methods:This was an open label cohort of 11 patients who received L-carnitine (100 mg/kg/day) plus the conventional medical treatment, compared with 40 controls, matched for gender and age. The L-carnitine group was weighed 118 times and the controls 264 times. Additionally, the L-carnitine group underwent 65 two-dimensional echocardiograms and the controls 144. Chi-square, Students t test, Pearson correlation and ANOVA were calculated with alpha = 0.05.Results: For the L-carnitine group: age at presentation = 3.82 years old, 72.7% (p = 0.033) were females younger than 2 years and 90.9% (p = 0.0001) were in functional classes III and IV. There were no deaths during this period. At presentation, no differences were observed in weight percentile (31.2±8.74 vs. 19.6±21.2) (p = 0.29) or z score (-0.68±1.05 vs. 1.16±0.89) (p = 0.24). Increases were observed in both the percentile (p = 0.026) and z score (p = 0.033) after the introduction of L-carnitine. At presentation, there were no differences in ejection fraction (54.9%±3.8 vs. 49.3%±6.6) (p = 0.19), but LV mass/ BSA were greater in the L-carnitine group (169.12 g/m 2 ±26.24 vs. 110.67 g/m 2 ±15.62) (p = 0.0005). After the introduction of L-carnitine an increase in ejection fraction (48.3±7 to 67.2±7) (p = 0.044) was observed. LV mass/BSA decreased (164.29 g/m 2 ±28.14 to 110.88 g/m 2 ±28.88), but without significance (p = 0.089) Conclusion:In children with idiopathic dilated cardiomyopathy, supplementation of L-carnitine may be helpful for nutritional and echocardiographic improvement.J Pediatr (Rio J). 2005;81(5):368-72: Acetylcarnitine, congestive cardiomyopathy, child, malnutrition, congestive heart failure, echocardiography. ResumoObjetivos: A desnutrição é marcadora independente de óbito na cardiomiopatia dilatada idiopática. Foi analisada a repercussão da introdução da L-carnitina nos parâmetros nutricionais e ecocardiográ-ficos em crianças com cardiomiopatia dilatada idiopática.Métodos: Estudo prospectivo aberto de 11 crianças, comparadas com 40 controles, pareados para sexo e idade. Foi administrada L-carnitina oral (100 mg/kg/dia), além do tratamento padrão. Foram realizadas 118 pesagens no grupo L-carnitina e 264 nos controles, além de 65 ecocardiogramas no grupo L-carnitina e 144 nos controles. Análise estatística: qui-quadrado, teste t de Student, ANOVA e correlação de Pearson. Foi utilizado alfa = 0,05.Resultados: Grupo L-carnitina: idade = 3,82 anos, 72,7% (p = 0,033) menores de 2 anos e do sexo feminino, e 90,9% (p = 0,001) em classe funcional III e IV. Não ocorreram óbitos no período. Não houve diferença no percentil de peso inicial (31,2±8,74 vs. 19,6±21,2) (p = 0,29) nem no índice z (-0,68±1,05 vs. -1,16±0,89) (p = 0,24). Ocorreu aumento do percentil (p = 0,026) e...

show abstract

“…The reduction in left ventricle mass/body surface area reflects reduced left ventricle hypertrophy, which has become unnecessary to compensate for contractile deficits. 19 We should not forget that cardiomyopathy secondary to innate errors of metabolism does not only present in the dilated form, but can also occur in the familial hypertrophic form, as demonstrated by a report by Lev et al 20 However, hypertrophic cardiomyopathy progresses with an adequate nutritional status. The literature does not offer references to the use of L-carnitine for treatment of the hypertrophic form unassociated with innate errors of metabolism.…”

Section: Time Of Evolution (Months) Ejection Fraction Of the Left Venmentioning

confidence: 96%