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Total 58 results found since Jan 2013.

Prevalence and clinical outcomes of dystrophin ‐associated dilated cardiomyopathy without severe skeletal myopathy
ConclusionsDMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy.
Source: European Journal of Heart Failure - June 9, 2021 Category: Cardiology Authors: Maria A. Restrepo ‐Cordoba, Karim Wahbi, Anca R. Florian, Juan Jiménez‐Jáimez, Luisa Politano, Michael Arad, Vicente Climent‐Paya, Ana Garcia‐Alvarez, Rasmus B. Hansen, José M. Larrañaga‐Moreira, Milos Kubanek, Luis R. Lopes, And Tags: Research Article Source Type: research

Amyloid myopathy: expanding the clinical spectrum of transthyretin amyloidosis —case report and literature review
AbstractWe identified two patients with transthyretin (ATTR) amyloid myopathy (one ATTR variant amyloidosis, ATTRv; one wild-type ATTR amyloidosis, ATTRwt). Myopathy was the initial manifestation in ATTRwt, whereas it followed neuropathy and cardiomyopathy in ATTRv. The ATTRwt patient showed muscular tracer uptake on99mTc-DPD planar scintigraphy at the time of initial diagnosis, consistent with ATTR amyloid myopathy. The ATTRv patient underwent heart transplantation because of progressive heart failure. Within the next two years, progressive myopathic symptoms and extracardiac tracer uptake on99mTc-DPD planar scintigraphy ...
Source: Journal of Nuclear Cardiology - May 17, 2022 Category: Nuclear Medicine Source Type: research

Repeated Radiofrequency Ablation of Atrial Tachycardia in Restrictive Cardiomyopathy Secondary to Myofibrillar Myopathy
This article is protected by copyright. All rights reserved.
Source: Journal of Cardiovascular Electrophysiology - April 24, 2014 Category: Cardiology Authors: CLAUDIA STÖLLBERGER, EDMUND GATTERER, JOSEF FINSTERER, KARL HEINZ KUCK, ROLAND RICHARD TILZ Tags: Original Article Source Type: research

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1
We describe ten patients from eight families with childhood or juvenile onset of myopathy, eight of whom also had rapidly progressive cardiomyopathy requiring heart transplant in four. The patients were homozygous or compound heterozygous for missense or truncating mutations in the ubiquitin ligase RBCK1 and had extensive polyglucosan accumulation in skeletal muscle and in the heart in cases of cardiomyopathy. We conclude that RBCK1 deficiency is a frequent cause of polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy. ANN NEUROL 2013. © 2013 American Neurological Association
Source: Annals of Neurology - June 24, 2013 Category: Neurology Authors: Johanna Nilsson, Benedikt Schoser, Pascal Laforet, Ognian Kalev, Christopher Lindberg, Norma B. Romero, Marcela Dávila López, Hasan O. Akman, Karim Wahbi, Stephan Iglseder, Christian Eggers, Andrew G. Engel, Salvatore DiMauro, Anders Oldfors Tags: Brief Communication Source Type: research

Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort
AbstractSporadic late-onset nemaline myopathy (SLONM) is a rare acquired myopathy characterized by rapid-onset proximal weakness in late adulthood, and the presence of nemaline bodies on muscle biopsy. In recent years, several therapeutic interventions, including immunomodulating agents and autologous stem cell transplantation, have shown variable degrees of efficacy in different patients, but no consensus has been reached to allow an effective tailoring of treatments in this severe disease. We performed a retrospective evaluation of clinical, pathological, laboratory, muscle MRI, and follow-up data of SLONM patients diagn...
Source: Journal of Neurology - January 22, 2018 Category: Neurology Source Type: research

Nemaline myopathy and heart failure: Role of ivabradine; a case report
Conclusions: HF is a rare feature of NM, but it can negatively influence prognosis. Conventional HF therapy and/or heart transplant are the only reasonable strategy in these patients. Ivabradine is a useful, effective and safe drug for therapy in NM patients with HF and should be considered when resting HR remains high despite beta-blockers' full titration or beta-blockers' underdosing due to intolerance or side effects.
Source: BMC Cardiovascular Disorders - January 19, 2015 Category: Cardiology Authors: Filippo SarulloGiuseppe VitaleAntonino Di FrancoSilvia SarulloYlenia SalernoLaura VassalloEmanuela BavieraStefania MaraziaGiorgio MandalàGaetano Lanza Source Type: research

Skeletal Muscle Myopathy in Heart Failure: the Role of Ejection Fraction
AbstractPurpose of ReviewThis review summarizes: (1) the structural and functional features coupled with pathophysiological factors responsible of skeletal muscle myopathy (SMM) in both heart failure with reduced (HFrEF) and preserved (HFpEF) ejection fraction and (2) the role of exercise as treatment of SMM in these HF-related phenotypes.Recent FindingsThe recent literature showed two main phenotypes of heart failure (HF): (1) HFrEF primarily due to a systolic dysfunction of the left ventricle and (2) HFpEF, mainly related to a diastolic dysfunction. Exercise intolerance is one of most disabling symptoms of HF and it is s...
Source: Current Cardiology Reports - September 26, 2018 Category: Cardiology Source Type: research

A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation
In this report, we describe two Brazilian siblings, aged 13 and 6 years, with a novel homozygous mutation (c.8872 C>T:p.Arg2958Ter) in the SPEG gene leading to a congenital myopathy. In the older sibling, the muscle biopsy showed fiber size disproportion.
Source: Neuromuscular Disorders - September 21, 2021 Category: Neurology Authors: Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme Ferraz Messina de P ádua Andrade, Maria de Fátima Derlene, Zilda Maria Alves Meira, Beatriz Vilela Morais Azevedo, Wilson Campos Jr, Sabrina Stephanie Lana Diniz, Marina Belisario Carvalhais, Julia Tags: Case report Source Type: research

Acetazolamide for Hypoventilation in a Congenital Myopathy Patient with Advanced Heart Failure after a Heart Transplant; a Case Report
A 61-year-old man was admitted to our hospital for further treatment of worsening congestive heart failure with a mechanical ventilation. He had undergone a heart transplant due to dilated cardiomyopathy complicated with congenital myopathy at the age of 43. He had been suffering from cardiac allograft vasculopathy and had a history of right ventricular infarction complicated with acute inferior myocardial infarction when he was 59. Since then, refractory right-sided heart failure occurred and additional diuretics were required.
Source: Journal of Cardiac Failure - September 20, 2017 Category: Cardiology Authors: Chiharuko Iio, Koichi Tamita, Tomohiko Shimizu, Mika Maeda, Jun Yamamuro Source Type: research

Severe Myopathy Following Heart Transplantation in a Patient with Danon Disease
A patient with Danon disease develops a severe myopathy with rhabdomyolysis following heart transplantation (HT).
Source: The Journal of Heart and Lung Transplantation - March 20, 2021 Category: Transplant Surgery Authors: J. Guzman Bofarull, L. Castrillo, J. Milisenda, A. Garc ía Álvarez, M. Castel, E. Sandoval, T. López Sobrino, M. Farrero, F. Pérez-Villa Tags: (1236) Source Type: research

G.P.150: Clinical heterogeneity in adult forms of FHL1 related myopathies. The “Institut de Myologie” experience
FHL1 gene mutations are responsible for reducing body myopathy (RBM), a rare condition characterized by progressive muscle weakness and the presence of intracytoplasmic aggregates. Age at onset ranges from early onset in infancy, through childhood and in some cases adult age. FHL1 mutations may also lead to allelic disorders including Emery-Dreifuss like muscular dystrophy (EDMD), hypertrophic cardiomyopathy (HCM), X-linked myopathy with postural muscle atrophy and generalized hypertrophy (X-MPMA) and X-linked scapuloperoneal myopathy (X-SM). To report clinical, muscle imaging, histological and genetic features found of ad...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: R.A.B. Ben Yaou, T.A.N. Stojkovic, P.A.S. Laforet, A.L.I. De Becdelievre, H.E.N. Becane, K.A.R. Wahbi, C.A.R. Navarro, M.I.C. Fardeau, N.O.R. Romero, P.A.S. Richard, D.E.N. Duboc, G.I.S. Bonne, B.R.U. Eymard Source Type: research

P.15.9 An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum
This report describe a family with Danon disease, a rare X-linked dominant condition, but an important differential diagnosis for patient with cardiomyopathy, myopathy and learning difficulty, having a strong family history of cardiomyopathy. While skeletal muscles biopsy showed vacuolar myopathy, these abnormal vacuolar changes also extended to the cardiac muscles. Diagnostic confirmation is important when counseling the long term prognosis for this family. While symptomatic treatment is available for the heart failure, with a progressive course of cardiomyopathy the ultimate cure is heart transplantation.
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: S.H.S. Chan, A. Kan, H.F. Tse Source Type: research