Search results for "Myopathy"

A case of Takotsubo syndrome

2011

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.

2002

Myoadenylate deaminase deficiency is the most common metabolic disorder of skeletal muscle in the Caucasian population, affecting approximately 2% of all individuals. Although most deficient subjects are asymptomatic, some suffer from exercise-induced myalgia suggesting a causal relationship between a lack of enzyme activity and muscle function. In addition, carriers of this derangement in purine nucleotide catabolism may have an adaptive advantage related to clinical outcome in heart disease. The molecular basis of myoadenylate deaminase deficiency in Caucasians has been attributed to a single mutant allele characterized by double C to T transitions at nucleotides +34 and +143 in mRNA enco…

Apical thrombus in a patient with takotsubo cardiomyopathy

2008

We report a case of apical thrombus formation among a group of 15 patients with takotsubo cardiomyopathy who were referred for a suspected acute coronary syndrome over a 2.5-year period. To the best of our knowledge, no data are available regarding the treatment of this syndrome. According to current literature and our reported experience, the use of anticoagulant therapy administered until complete resolution of wall motion abnormalities appears to be appropriate to treat apical thrombus formation and any possible subsequent embolism. © 2008 Italian Federation of Cardiology.

July 2003: 62-year-old female with progressive muscular weakness

2004

The July 2003 Case of the Month (COM). A 62-year-old female patient experienced progressive muscular weakness over the last ten years, involving shoulder and pelvic girdle muscles, paraspinal and facial muscles. A biopsy was taken from the left deltoid muscle where hepatitis vaccination had taken place 4 weeks previously. The specimen revealed macrophagic myofasciitis due to the injection of aluminium-bound vaccines. The finding can be reproduced experimentally by injecting vaccines in rats. The pathomechanism is supposed to involve immune stimulation due to long term persistence of the adjuvant. Macrophagic myofasciitis has been suggested to occasionally cause myopathy but is supposed to b…

Case report: Bilateral femoral fracture in a young fertile age woman

2009

X-Linked myopathy with excessive autophagy: A new hereditary muscle disease

1988

We report on 3 brothers with a myopathy that also affected their maternal grandfather and great-uncle. Characteristic features are onset in early childhood, very slow progression, normal life expectancy, weakness of proximal limb muscles, especially in the legs, elevation of serum creatine kinase, and no cardiac or intellectual involvement. In biopsy material muscle fibers are almost never necrotic but show excessive autophagic activity and exocytosis of the phagocytosed material. We suggest that this family has an undescribed type of congenital myopathy, for which we propose the name X-linked myopathy with excessive autophagy.

Moving from Dermatomyositis Associated with Anti-Melanoma Differentiation-Associated Gene 5 Antibody to Anti-Melanoma Differentiation-Associated Gene…

2018

International audience

[Takotsubo cardiomyopathy: a consensus document].

2008

Takotsubo cardiomyopathy is a syndrome characterized by acute regional systolic dysfunction of the left ventricle, frequently related to psycho-physical acute stress, and usually reversible. This rare syndrome involves more often the female sex with the highest frequency of occurrence between the seventh and eighth decade of life. Etiology has not been clarified yet and several hypotheses have been postulated: multiple epicardial coronary artery damage, abnormal coronary microcirculation, catecholamine-mediated cardiac toxicity, and neurogenic stunning. Clinical presentation is not easy to distinguish from an acute coronary syndrome: chest pain at rest or dyspnea, new-onset electrocardiogra…

Atrioventricular junction ablation as a bridging treatment of tachycardiomyopathy and renal insufficiency in the course of atrial fibrillation with h…

2019

We present the case of a 67 year-old woman with tachycardiomyopathy induced by atrial fibrillation with high frequency ventricular response. The patient underwent resynchronisation pacemaker implantation and atrioventricular junction ablation as a bridging therapy prior to cryoballoon pulmonary vein ostia ablation.

P3488Mechanistic insight on the cardioprotective effect of levosimendan against doxorubicin induced cardiomyopathy: Pivotal role of PKA signaling

2019

Abstract Background Levosimendan (LEVO) an inodilator indicated for the treatment of heart failure exerts multifaceted cardioprotective effects. Case-studies indicate protection against doxorubicin (DXR)-induced cardiotoxicity, but this effect remains elusive. We have previously shown that LEVO exerts cardioprotection against DXR-induced cardiomyopathy in a rat in vivo model, in a PKA/PKG-dependent manner. Purpose We sought to elucidate the mechanism of LEVO's induced cardioprotection and clarify the contribution of PKG and PKA pathways converging onto phospholamban (PLN). Methods As previously observed, LEVO at a dose of 24μg/kg protects against DXR cardiotoxicity, with protein kinase B (A…