O livro “CONTOS VERÍDICOS INACREDITÁVEIS”, de autoria de José Carlos Borges, tem todos os ingredientes para uma leitura de fácil digestão. Textos curtos, com muita criatividade, que prendem a nossa atenção de princípio ao fim. Vale a pena lê-lo.Toda a arrecadação será destinada à Associação Carioca de Distrofia Muscular – Acadim.Os interessados terão a opção de adquirir o livro:1 – pessoalmente na Acadim pelo preço de R$ 15,00 – Rua Santo Afonso, 215 bloco 02 / Sala 911 – Tijuca.2 – via correio com depósito de R$ 21,00 (custo de envio de RS 6,00 e mais RS 15,00 a unidade do exemplar) em conta bancaria:– Banco Itaú Ag. 1246 C/C 23.201-9.
Seg - Sex: 09:00 - 18:00Sáb - Dom: FECHADO55(21)2502-5766contato@acadim.com.brR. Conde de Bonfim, 344Bloco 2, sala 911 - Tijuca, RJDOEAjudar
|
USA – no Experimental Biology, maior congresso de ciências básicas dos Estados Unidos, serão apresentados três trabalhos de um mesmo grupo que reforçam o papel das alterações vasculares na distrofia muscular de Duchenne. Estudos prévios demonstraram que há uma incapacidade dos portadores de distrofia de Becker em reduzir a vasocontrição reflexa desencadeada por exercícios. Nestes três trabalhos, dois em seres humanos e um em camundongos este efeito é novamente demonstrado. Além disso com o uso de inibidores da fosfodiesterase habitualmente utilizados em disfunção erétil, como o tadalafil ou sildenafil, a resposta vasoativa se recupera ao menos parcialmente. O resumo em inglês destes trabalhos pode ser lido aqui: a) (Experimental Biology, 2013) Phosphodiesterase 5 inhibition rescues functional sympatholysis in Duchenne Muscular Dystrophy We recently reported that functional sympatholysis (i.e., muscle contraction-induced attenuation of reflex vasoconstriction) is impaired in Becker Muscular dystrophy and rescued by phosphodiesterase (PDE)5 inhibition with tadalafil. However, tadalafil failed to rescue sympatholysis in one BMD patient with a rapidly progressive disease resembling Duchenne Muscular Dystrophy. Thus, we tested the ability of two different phosphodiesterase inhibitors, tadalafil and sildenafil, to rescue sympatholysis in DMD. In 6 boys with DMD (ages 7-13) and 8 healthy controls, we measured reflex vasoconstriction (decreased forearm muscle oxygenation [ΔHb02, near infrared spectroscopy] evoked by lower body negative pressure) at rest and during rhythmic handgrip exercise. First, we confirm that sympatholysis is impaired in DMD, because handgrip greatly attenuated vasoconstriction in controls (ΔHb02:-22±6 vs. -9±5 %, p<.05; rest vs. HG) but caused no attenuation in DMD (-17±2 vs. -15±3%). Then, in a randomized single dose (0.5 mg/kg) cross-over trial of tadalafil vs. sildenafil, we show that sympatholysis is rescued in DMD by either PDE5 inhibitor (tadalafil: -21±3 vs. -11±4; sildenafil, -22±4 vs. -12±3%; ΔHb02 rest vs. HG). PDE5 inhibition therefore constitutes a putative therapeutic treatment option for patients with either Becker or Duchenne Muscular Dystrophy. Support: Parent Project Muscular Dystrophy b) (Experimental Biology, 2013) Tadalafil-sensitive impairment in muscle blood flow during exercise in Duchenne Muscular Dystrophy Out-of-frame mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD)—a devastating X-linked muscle wasting disease for which there is no treatment other than corticosteroids. In DMD, loss of the cytoskeletal protein dystrophin impairs sarcoelmmal targeting of nNOS, which is the main source of skeletal muscle-derived nitric oxide (NO). We previously showed that loss of nNOS impairs the normal exercise-induced attenuation of reflex vasoconstriction in dystrophic skeletal muscle, thus implicating a putative vascular component to the pathogenesis of DMD. Here we present data on a second phenotype, that muscle blood flow (BF, measured by Doppler ultrasound of the brachial artery) fails to increase normally during mild rhythmic handgrip exercise in 6 boys with DMD (7-13 years of age) compared with 8 age-matched male controls (Ctrls): ΔBF:+13±5% vs. +81±10%, respectively (p<.05). Moreover, we show that the phosphodiesterase 5 inhibitor Tadalafil, restores active hyperemia in boys with DMD in a dose-dependent manner: 0.5 mg/kg, +56±13%; 1.0 mg/kg, +72+18% These data significantly advance the vascular hypothesis of DMD and implicate PDE5 inhibition as a putative therapeutic treatment option. Support: Parent Project Muscular Dystrophy, Heart and Stroke Foundation of Canada (MN) c) (Experimental Biology, 2013) Chronic tadalafil treatment ameliorates functional muscle ischemia and exercise-induced muscle injury in dystrophin- deficient mdx mice. Liang Li, Nancy Zepeda, Ronald G Victor, Gail D Thomas. The The dystrophin-deficient muscles of patients with Duchenne or Becker muscular dystrophy and mdx mice are susceptible to ischemia during exercise due to loss of sarcolemmal neuronal nitric oxide synthase (nNOS). We showed that functional muscle ischemia is alleviated in patients and mice by acute treatment with the phosphodiesterase 5A (PDE5A) inhibitor tadalafil to boost NO-cGMP signaling in the diseased muscles. We now asked if this anti-ischemic effect is sustained during chronic PDE5A inhibition. We fed mdx mice control or medicated diets (tadalafil, 4 mg/kg) for 3 months and then evaluated norepinephrine (NE)-induced hindlimb vasoconstriction. NE evoked similar decreases in femoral vascular conductance (FVC) in resting and contracting hindlimbs of untreated mdx mice, indicating functional muscle ischemia (ΔFVC contraction/rest, 1.07 ± 0.13; n=10). NE-induced ischemia was attenuated in tadalafil-treated mice (ΔFVC contraction/rest, 0.61 ± 0.06; n=9; P<0.05 vs untreated) and was similar to C57BL10 controls (ΔFVC contraction/rest, 0.50 ± 0.08; n=10). Serum creatine kinase activity was elevated 6-fold post-exercise in untreated mice, but only 2.5-fold in treated mice (P<0.05). These findings indicate that chronic PDE5A inhibition counteracts functional muscle ischemia in mdx mice, which may reduce injury of the vulnerable dystrophin-deficient muscles during exercise. Supported by MDA, 158944.
|
Empresa patrocinadora do estudo: Eli Lilly Co. (http://www.lilly.com/)
Conceito: Portadores de distrofia muscular de Duchenne (e distrofia muscular de Becker) apresentam insuficiência no fluxo sanguíneo dos músculos, o que, imagina-se, contribui para uma maior fraqueza e fadiga muscular. Esta insuficiência advém do fato de que tanto na DMD, quanto na DMB, há uma deficiência de nNOS (Óxido Nítrico Sintetase Neuronal), que controla o diâmetro dos vasos que irrigam os músculos.
O Tadalafil (nome genérico da droga Cialis) já vem sendo usado com segurança, há anos, para tratar a disfunção erétil, justamente por ser capaz de dilatar os vasos sanguíneos, melhorando o fluxo sanguíneo e a irrigação dos tecidos.
Objetivo: O objetivo principal do estudo é determinar se a droga consegue reduzir a velocidade de declínio da capacidade de deambular de meninos com DMD. A avaliação principal será efetuada por meio do teste da caminhada de seis minutos (6MWD). O estudo também avaliará a segurança da droga, e possíveis efeitos colaterais que possam existir.
Os participantes do estudo serão submetidos ao tratamento recebendo Tadafil (ou recebendo placebo) durante as primeiras 48 semanas do estudo, e poderão prosseguir por 48 semanas adicionais, durante as quais todos receberão Tadalafil.
Início do estudo: Setembro/2013
Estimativa para o fim do estudo: Novembro/2016
Estimativa para alcançar objetivo primário: Novembro/2015
Dosagem Tadalafil: 0,3 mg/kg (uma vez ao dia) e 0,6 mg/kg (uma vez ao dia);
Placebo: Tomado uma vez ao dia;
O número estimado de participantes é de 306 meninos com DMD.
Critérios de participação:
- Idades variando entre 7 e 14 anos, com diagnósticos clínicos típicos (aparecimento dos primeiros sinais da doença antes dos 6 anos de idade, elevados níveis de CPK, crescente dificuldade para caminhar), acrescidos de, ou confirmação da DMD via teste genético; ou biópsia muscular mostrando uma quase inexistência de distrofina;
- Os participantes deverão estar recebendo terapia por corticosteroides por no mínimo seis meses, sem que tenha havido mudança significativa na dosagem diária ou mudança no regime de dosagem, por no mínimo 3 meses imediatamente anteriores à seleção para o estudo; e uma expectativa razoável de que nem a dosagem diária, nem o regime de dosagem, mudarão significativamente durante o estudo;
- Os participantes deverão conseguir completar o teste da caminhada de 6 minutos com resultados dentro de uma variação máxima de 20% entre cada um, num mínimo de duas avaliações pré-randomizadas;
- Fração de ejeção do ventrículo esquerdo maior ou igual a 50 (medida por ecocardiograma);
- Devem fornecer autorização dos pais/guardiões legais;
Critérios de exclusão:
- Cardiomiopatia sintomátima, ou insuficiência cardíaca;
- Mudança no tratamento profilático da insuficiência cardíaca nos 3 meses anteriores ao estudo;
- Arritmia cardíaca;
- Ter participado em estudo com base em terapia genética, oligonucleotídeos antisense, ou terapia tipo códon de parada prematura;
- Incapacidade de tomar medicamentos por via oral;
- Uso de qualquer tratamento farmacológico nos 3 meses anteriores ao tratamento (exceto corticosteroides), que possa afetar a força muscular (ex: hormônio de crescimento, esteroides anabolizantes, etc);
- Tratamentos novos, ou mudança de tratamento, com ervas ou suplementos dietéticos, tomados na expectativa de se obter efeitos positivos na força muscular, ou sua função, um mês antes de receber a primeira dose do estudo;
- Ter passado por cirurgia até três meses antes do início do estudo que possa afetar a força ou função muscular, ou ter cirurgia planejada para qualquer momento durante o estudo;
- Evidência de qualquer lesão nos membros inferiores que possa afetar a performance no teste da caminhada de seis minutos;
- Graves problemas comportamentais, incluindo autismo grave ou distúrbio do déficit de atenção, que possam interferir no teste da caminhada de seis minutos;
- Contraindicações ao Tadalafil;
- Histórico de insuficiência renal ou evidências clínicas de cirrose;
- Alergia conhecida a quaisquer dos excipientes das cápsulas de Tadalafil, notadamente a lactose;
- Utilizar correntemente, ou nos seis últimos meses, tratamento com drogas inibidoras da Fosfodiesterase Tipo 5.
Centros onde ocorrerão os estudos:
http://www.clinicaltrials.gov/ct2/show/study/NCT01865084?show_locs=Y#locnn
USA – com a melhora do atendimento das manifestações respiratórias da distrofia muscular de Duchenne as manifestações cardíacas passaram a ser a maior causa de morte na doença. A cardiomiopatia em Duchenne é diferente de outras observadas em pacientes pediátricos. Neste artigo os especialistas foram reunidos para discutir as diretrizes utilizadas para diagnóstico, tratamento e prevenção da doença.
Holanda – Este estudo foi realizado com 80 adultos (acima de 20 anos) com distrofia muscular de Duchenne. Os sintomas de fadiga (40,5%), dor (73,4%), ansiedade (24%) e depressão (19%) foram frequentemente encontrados. Muitos indivíduos muitas vezes tinha várias condições. Os autores concluem que estes sintomas são muito frequentes e são tratáveis e podem melhorar a qualidade de vida. O resumo em inglês pode ser lido abaixo:
(Archives of Physical Medicine and Rehabilitation,2015) Prevalence of fatigue, pain, anxiety and depression in adults with Duchenne Muscular Dystrophy, and their associations with quality of life
Robert F. Pangalila, Geertrudis AM. van den Bos, Bart Bartels, Michael Bergen, Henk J. Stam, Marij E. Roebroeck – The Netherlands
Design: cross-sectional study
Setting: Home of participants
Participants: 80 adults with Duchenne Muscular Dystrophy
Interventions: Not applicable
Main outcome variables: Fatigue was assessed with the Fatigue Severity Scale; pain with one item of the SF-36 and by interview; and anxiety and depression, using the Hospital Anxiety and Depression Scale. Health-related quality of life was assessed using the World Health Organization Quality of Life Scale Brief Version (WHOQOL-BREF). Associations between these conditions and quality of life were assessed by means of univariate and multivariate logistic regression analyses.
Results: Symptoms of fatigue (40.5%), pain (73.4%), anxiety (24%), and depression (19%) were frequently found. Individuals often had multiple conditions. Fatigue was related to overall quality of life, and to the quality of life domains of physical health and environment; anxiety was related to the psychological domain.
Conclusion: Fatigue, pain, anxiety, and depression, potentially treatable symptoms, occur frequently in adults with Duchenne Muscular Dystrophy and significantly influence health-related quality of life.
Itália – os autores pesquisaram uma maneira de tratar a distrofia com anti-inflamatórios que tivessem menor quantidade de efeitos colaterais que os corticóides. A interleucina 6 está aumentada em pessoas e camundongos com distrofia muscular de Duchenne. Neste experimento em camundongos utilizaram um bloqueador do receptor da interleucina 6. Os animais tratados apresentaram melhora da força muscular e melhora das alterações patológicas demonstrando um efeito positivo e promissor para tratamento desta forma de distrofia muscular.
O resumo em inglês pode ser lido abaixo:
(EBioMedicine, 2015) Functional and morphological improvement of dystrophic muscle by interleukin 6 receptor blockade
Laura Pelosi, Maria Grazia Berardinelli, Loredana De Pasquale, Carmine Nicoletti, Adele D’Amico, Francesco Carvello, Gian Marco Moneta, Angela Catizone, Enrico Bertini, Fabrizio De Benedetti, Antonio Musarò – Italy
The anti-inflammatory agents glucocorticoids (GC) are the only available treatment for Duchenne muscular dystrophy (DMD). However, long-term GC treatment causes muscle atrophy and wasting. Thus, targeting specific mediator of inflammatory response may be more specific, more efficacious, and with fewer side effects. The pro-inflammatory cytokine interleukin (IL) 6 is overproduced in patients with DMD and in the muscle of mdx, the animal model for human DMD. We tested the ability of inhibition of IL6 activity, using an interleukin-6 receptor (Il6r) neutralizing antibody, to ameliorate the dystrophic phenotype. Blockade of endogenous Il6r conferred on dystrophic muscles resistance to degeneration and alleviated both morphological and functional consequences of the primary genetic defect. Pharmacological inhibition of IL6 activity leaded to changes in the dystrophic muscle environment, favoring anti-inflammatory responses and improvement in muscle repair. This resulted in a functional homeostatic maintenance of dystrophic muscle.
These data provide an alternative pharmacological strategy for treatment of DMD and circumvents the major problems associated with conventional therapy.
USA – A epicatequina foi descoberta para ser uma homóloga estrutural de uma família recém-descoberta de PGC1-alfa ativando hormônios esteróides que promovem biogênese mitocondrial e induzir a regeneração do músculo esquelético. Foi realizado um estudo piloto aberto de epicatequina(50mg duas vezes ao dia por 8 semanas) em adultos ambulatoriais com Distrofia de Becker. A epicatequina induziu biogênese mitocondrial e regeneração muscular. É o único composto oral que pode concomitantemente aumentar a folistatina e diminuir a miostatina. Aumento dos níveis de distrofina e utrofina também foram observados. Houve aumento da força muscular. A epicanterina pode ser uma nova estratégia terapêutica para distrofinopatias.
O resumo em inglês pode ser lido abaixo:
(MDA Conference, 2015) Epicatechin enhances mitochondrial biogenesis, increases dystrophin and utrophin, increases follistatin while decreasing myostatin, and improves skeletal muscle exercise response in adults with Becker muscular dystrophy (BMD).
Craig M. McDonald, MD1†*, Erik K. Henricson, MPH1†, Bjorn Oskarsson, MD1, Candace Aguilar, BS1, Alina Nicorici, BS1, Nanette Joyce, DO1, Divya Reddy, MD1, Amy Wagner, MS1, Evan deBie, BS1, Erica Goude, BS1, R. Ted Abresch, MS1, Francisco Villareal, MD2, Guy Perkins, MD2, Yetrib Hathout, PhD3, Sundeep Dugar, PhD4, George Schreiner, MD, PhD4. 1University of California, Davis, Sacramento CA; 2University of California, San Diego, San Diego CA; 3Children’s National Medical Center, Washington, DC; 4Cardero Therapeutics, Los Altos Hills, CA.
Objective: To assess the effect of epicatechin on mitochondrial density and muscle function in Becker muscular dystrophy (BMD).
Background: Epicatechin has been discovered to be a structural homologue of a newly discovered family of PGC1-alpha activating steroid hormones that promote mitochondrial biogenesis and induce skeletal muscle regeneration. Epicatechin has been shown to stimulate mitochondrial biogenesis and improve muscle structure and function in the mdx and delta sarcoglycan null models of muscular dystrophy. We conducted an open-label pilot study of epicatechin in ambulatory adults with BMD.
Design: Seven participants received epicatechin 50 mg b.i.d. for 8 weeks. Pre- and post-assessments included: biceps biopsy Western blot and EM, peripheral blood biomarkers, metabolic gas exchange / graded exercise testing, quadriceps tissue saturation index (TSI) by near-infrared spectroscopy, and quantitative muscle strength.
Results: Muscle western blot showed significantly increased dystrophin, utrophin and dysferlin levels. In addition we observed increased muscle follistatin (p=0.002) and decreased myostatin (p=0.008). Increased markers of muscle regeneration included myogenin, Myf5, MyoD, myosin and SkM actin alpha 1 (all p<0.033). Increased proteins associated with mitochondrial growth included PGC1-alpha (p=0.01), AMPK (p=0.004) and mitofilin (p=0.007). Plasma Western blot showed increased follistatin (p=0.0006), decreased myostatin (p=0.04) and increased follistatin:myostatin ratio (p=0.0004). Muscle EM showed increased mitochondrial volume and cristae abundance (p=0.02). Exercise testing demonstrated decreased VO2/kg (p<0.0001), lactate (p<0.0001) and heart rate (p<0.00001) at defined workloads. TSI improved in resting (p<0.008) and post-exercise states (p<0.001). Performance on 6MWT, cycle test maximal watts and strength increased in a subset of patients.
Conclusion: Epicatechin induces mitochondrial biogenesis and muscle regeneration in BMD. It is the only oral compound ever demonstrated to both increase plasma follistatin and decrease plasma myostatin, whose ratio may comprise a future pharmacodynamic biomarker. Increased levels of dystrophin and utrophin suggest that concurrent stimulation of bioenergetics and muscle regeneration may be a novel therapeutic strategy for dystrophinopathies.
USA – nesta pesquisa os autores estudaram a inibição dos receptores dos mineralocorticóides que foram associados com espironolactona e lisinopril resultando em um dramático aumento da força muscular e respiratória com menor alterações patológicas dos músculos.
O resumo em inglês pode ser lido abaixo:
(Experimental Biology, 2015) Elucidating the Role of Mineralocorticoid Receptors in Skeletal Muscle as a Potential Therapeutic Target for Duchenne Muscular Dystrophy
Jessica Chadwick, James Hauck, Jeovanna Low, Jill Rafael-Fortne – USA
Our lab identified a potential new treatment for Duchenne Muscular Dystrophy using the mineralocorticoid receptor (MR) antagonist spironolactone and ACE inhibitor lisinopril. Drug studies using dystrophic Het (utrn+/-;mdx) mice showed a dramatic improvement in both respiratory and limb muscle force and a reduction of ongoing muscle damage, in addition to preventing cardiomyopathy. We show MR is present in both skeletal muscle tissue and myogenic cultures , supporting a direct affect by MR antagonists on skeletal muscle. Global analysis of gene expression between treated and untreated dystrophic mice identified potential molecular targets to unravel the drugs’ mode of action. Preliminary microarray data comparing quadriceps muscle from lisinopril and spironolactone treated het mice to untreated controls revealed changes in the expression of several gene targets with known roles in striated muscle, which have been confirmed using immunofluorescence and western blot analysis. Myogenic cultures treated with MR agonists and antagonists are being used to test whether these potential downstream targets are affected in a cell autologous manner in skeletal muscle and represent bona fide MR gene targets. NIH 1 R01 NS082868; T32 NS077984
USA – nesta pesquisa os autores estudaram pacientes com cardiomiopatia na distrofia muscular de Duchenne. Os níveis de ST2 no soro dos pacientes com Duchenne é maior que nas pessoas que não tem a doença. Mas os níveis são significantemente maiores nos pacientes com Duchenne que apresentam cardiomiopatia.
O resumo em inglês pode ser lido abaixo:
(ACC, 2015) Elevated ST2 Serum Levels a Biomarker for Cardiomyopathy in Duchenne Muscular Dystrophy
Julia Anderson, Haeri Seol, Yetrib Hathout, Christopher Spurney, Children’s National Medical Center, Washington, DC, USA
Background: Duchenne muscular dystrophy (DMD) is a rare, fatal X-linked disorder characterized by the lack of dystrophin, a key sarcolemma muscle protein. Nearly 50% of DMD patients now die from cardiac related causes. The purpose of our research was to identify cardiac serum biomarkers associated with DMD cardiomyopathy.
Methods: Serum was collected from 30 participants enrolled in the Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History study (clinicaltrials.gov: NCT00468832) from 5 clinical sites. Cardiomyopathy was defined as a reported shortening faction (SF) < 28% and/or ejection faction (EF) < 55%. Serum was analyzed via enzyme-linked immunosorbent assays (R&D Systems; Cloud-Clone Corp.) in duplicate using an xMark spectrometer (Bio-Rad Laboratories). ANOVAs (α < 0.05) were used to determine significance.
Results: There were no significant differences in ages between participants with DMD and cardiomyopathy; those with DMD and normal cardiac function; and normal controls. The DMD cardiomyopathy group had an EF=45±10% (mean±SD) / SF=25±2% and the DMD non-cardiomyopathy group had an EF=58±5% and SF=32±3% (p<0.01). Interleukin 1 receptor-like 1 (ST2) serum protein levels were significantly elevated in the DMD cardiomyopathy group [n=12; 35798±16918 pg/mL; p<0.01] compared to controls (n=4; 9940±6565 pg/mL). The DMD non-cardiomyopathy group also showed a significant 3 fold increase (n=12; 28837±17305 pg/mL; p<0.05) compared to controls. Matrix metallopeptidase 9 (MMP9) levels were significantly increased in both DMD groups compared to controls (p<0.02). No significant differences were seen in BNP, GAL3, CRP, LEP, TNC or TSP4 levels.
Conclusions: In conclusion, increased ST2 levels were found in serum of DMD patients compared to healthy volunteers and significantly elevated in DMD patients with cardiomyopathy. Future studies correlating cardiomyopathy with ST2 levels may allow for earlier detection and administration of cardioprotective therapies in DMD patients
Reino Unido – a cardiomiopatia da distrofia muscular de Duchenne aumenta a mortalidade peri-operatória e a melhro maneira de avaliar o paciente não foi ainda estabelecida. Trinta e cinco pacientes com Duchenne submetidos a cirurgia foram avaliados com o ecocardiograma e ressonância nuclear magnética. Os resultados demonstraram que a ressonância nuclear magnética acrescenta maiores informações sobre a função cardíaca do que o ecocardiograma que pode substimar ou superestimar a função cardíaca, além de freuqentemente apresentar dificuldades técnicas de visualização (janela ruim).
O resumo em inglês pode ser lido abaixo:
(European Journal of Paediatric Neurology,2015) The value of cardiac MRI versus Echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy
A. Brunklaus, E. Parish, F. Muntoni, S. Scuplak, S.K. Tucker, M. Fenton, M.L. Hughes, A.Y. Manzur – UK
Duchenne Muscular Dystrophy (DMD) related cardiomyopathy is associated with significant perioperative mortality. Cardiac MRI (CMR) has not previously been systematically evaluated as pre-operative assessment tool for heart function in DMD. Our aim was to establish whether CMR versus echocardiography contributes to pre-operative DMD assessment. Case records were retrospectively reviewed of 35 consecutive DMD boys who underwent evaluation for surgical procedures between 2010-2013. Echocardiography revealed a median left ventricular (LV) shortening fraction (SF) of 29% (range: 7-44). 37% of boys (13/35) had abnormal SF <25%, 66% (23/35) showed hypokinesia and 26% (9/35) had LV dilatation. CMR revealed a median left ventricular ejection fraction (LVEF) of 52% (range: 27-67%). 57% of boys (20/35) had abnormal LVEF <55%, 71% (25/35) had hypokinesia, and 82% late gadolinium enhancement. Extensive versus minimal late gadolinium enhancement was associated with reduced left ventricular ejection fraction (48% vs 58%; p=0.003) suggesting more severe cardiomyopathy. Although echocardiography shortening fraction correlated with CMR ejection fraction (rs=0.67; p<0.001), three-quarter of echocardiography studies had suboptimal scanning windows and in 26% measurements significantly over- or underestimated left-ventricular function compared to CMR.
Our findings clearly demonstrate the added value of CMR versus echocardiography in assessing DMD-cardiomyopathy. Particularly when echocardiographic scanning windows are suboptimal, CMR should be considered to allow accurate pre-operative cardiac assessment.
Últimas Notícias
11 de fevereiro de 2020