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Condition: Cardiomyopathy

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Total 870 results found since Jan 2013.

Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation
X-linked myotubular myopathy (XLMTM) is a rare neuromuscular condition caused by mutations in the MTM1 gene. Affected males typically present with neonatal hypotonia and weakness, associated with severe morbidities and early death.1,2 Female carriers are believed to be usually asymptomatic; nevertheless, recent reports3,4 have displayed a wide a spectrum of clinical involvement in females that suggesting that MTM1 mutations might be underestimated in this population. Diagnostic clues include generalized weakness, with a noteworthy asymmetric involvement, a variable decline in respiratory function and/or facial weakness and...
Source: Neuromuscular Disorders - August 13, 2018 Category: Neurology Authors: J. Garc ía-García, M.A. Fernández-García, P. Blanco-Arias, M.I. Díaz-Maroto-Cicuendez, F. Salmerón-Martínez, V.M. Hidalgo-Olivares, M. Olivé Source Type: research

Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
Clinical Scenarios The test is designed both for preconception carrier testing of couples wishing to start a family and for molecular diagnosis in children suspected of being affected by a recessive childhood disease. The published (research) version of the test included 448 childhood recessive illnesses with severe clinical manifestations1. A revised panel is undergoing clinical validation for use as a laboratory developed test (LDT) with an intention of being offered via a laboratory regulated by the Clinical Laboratory Improvement Amendments (CLIA). The clinical panel contains 595 childhood recessive diseases that are d...
Source: PLOS Currents Evidence on Genomic Tests - May 2, 2012 Category: Genetics & Stem Cells Authors: stephenkingsmore Source Type: research

Spectrum of congenital myopathies: A single centre experience
Conclusion: CMs are rare and the diagnosis can only be established on muscle biopsy. Defining the specific CMs helps the clinician in counseling the patient and family.
Source: Neurology India - July 16, 2013 Category: Neurology Authors: Megha S UppinAK MeenaChalla Sundaram Source Type: research

SPEG deficiency is associated with muscle weakness, triad defect, abnormal calcium handling and EC coupling
Centronuclear myopathies (CNM) are a subtype of congenital myopathies (CM) characterized by skeletal muscle weakness and an increase in the number of central myonuclei. We have identified three CNM probands, two with dilated cardiomyopathy, carrying SPEG mutations. SPEG protein localizes to the terminal cisternae of the sarcoplasmic reticulum (SR). We previously described that SPEG interacts with myotubularin, a protein also linked to a type of CNM called myotubular myopathy. Currently, the role of SPEG in muscle function is unclear.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: V. Huntoon, J. Widrick, C. Sanchez, C. Kutchukian, S. Cao, A. Beggs, V. Jacquemond, P. Agrawal Source Type: research

Amyloid Myopathy With and Without Systemic Amyloidosis (S54.006)
Conclusions:About 1/3 of amyloid myopathy patients have amyloid deposits exclusively in skeletal muscle. Molecular defects remain unknown in 45% of patients with isolated amyloid myopathy. Anoctaminopathy-5 accounts for 80% of genetically-diagnosed isolated amyloid myopathy. Clinical, laboratory and pathological features may help differentiate between amyloid myopathy with and without systemic amyloidosis.Disclosure: Dr. Liewluck has nothing to disclose. Dr. Milone has nothing to disclose.
Source: Neurology - April 17, 2017 Category: Neurology Authors: Liewluck, T., Milone, M. Tags: Motor Neuron Disease and Myopathies Source Type: research

Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation
Abstract: Myosin-heavy-chain 7 (MYH7)-myopathy manifests clinically with a distal, scapuloperoneal, limb-girdle (proximal), or axial distribution and may involve the respiratory muscles. Cardiac involvement is frequent, ranging from relaxation impairment to severe dilative cardiomyopathy. Progression and earlier onset of cardiac disease in successive generations with MYH7-myopathy is unreported. In a five-generation family MYH7-myopathy due to the novel c.5566G>A (p.E1856K) mutation manifested with late-onset, distal>proximal myopathy and variable degree of cardiac involvement. The index patient developed distal myopathy s...
Source: Neuromuscular Disorders - June 23, 2014 Category: Neurology Authors: Josef Finsterer, Oliver Brandau, Claudia Stöllberger, William Wallefeld, Nigel G. Laing, Franco Laccone Tags: Research papers Source Type: research

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

G.P.57: Novel MYH7-mutations in Norwegian patients with distal myopathy
Distal myopathies are a group of inherited diseases affecting mainly the distal limb muscles. As a group, these are outnumbered by the Limb Girdle muscular dystrophies, and less is known about the prevalence of relevant mutations in our population. We found novel mutations in the MYH7 gene in two Norwegian kindreds with a dominantly inherited, distal myopathy starting in childhood. MYH7-mutations have been previously associated with three different clinical manifestations: Laing distal myopathy, myosin storage myopathy and cardiomyopathy. In our families, one mutation is situated in exon 32, within the region generally ass...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: P.S. Sanaker, T. Leren, H. Miletic, L.A. Bindoff Source Type: research

On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy.
We report a case of a 50-year-old man who presented with severe heart failure as the initial manifestation of nemaline myopathy. Soon after he developed acute restrictive respiratory failure due to the diaphragmatic paralysis. The diagnosis of "nemaline myopathy" was obtained on muscle biopsy performed one year later. After starting appropriate cardiological treatment and non-invasive ventilation, his cardiac and pulmonary functions improved substantially, remaining stable for over the 10 years since diagnosis. In the last two years the patient had a progressive deterioration of respiratory function, enabling him to attend...
Source: Acta Myologica - November 25, 2014 Category: Neurology Tags: Acta Myol Source Type: research

Sudden cardiac arrest in a child with nemaline myopathy
Conclusions: Congenital typical nemaline myopathy is not necessarily a static or very slowly progressive disorder and acute cardiac deterioration can lead to early death.
Source: Italian Journal of Pediatrics - March 21, 2015 Category: Pediatrics Authors: Lucia MarsegliaGabriella D¿AngeloSara MantiVincenzo SalpietroTeresa ArrigoVittorio CavallariEloisa Gitto Source Type: research

Myopalladin recessive mutations cause congenital cap myopathy (S54.007)
Conclusions:Autosomal dominant mutations in MYPN gene have been reported in dilated, restrictive or hypertrophic cardiomyopathies (MIM#615248) without skeletal muscle involvement. Our findings demonstrate that recessive MYPN gene mutations cause cap myopathy. This suggests that MYPN is involved in two different diseases through different modes of inheritance.Study Supported by:This work was supported in part by the Assistance Publique-Hôpitaux de Paris (AP-HP), the Association Française contre les Myopathies (AFM), and the Association Institut de Myologie (AIM).Disclosure: Dr. Malfatti* has nothing to disclose...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Malfatti, E., Lornage, X., Cheraud, C., Schneider, R., Biancalana, V., Cuisset, J.-M., Garibaldi, M., Eymard, B., Fardeau, M., Boland, A., Deleuze, J.-F., Thompson, J., Bohm, J., Romero, N. B., Laporte, J. Tags: Motor Neuron Disease and Myopathies Source Type: research

MYH7 mutation associated with two phenotypes of myopathy
This study, for the first time, reports the MYH7 mutations associated with centronucleus myopathy.
Source: Neurological Sciences - November 24, 2017 Category: Neurology Source Type: research