Management of cardiac involvement in neuromuscular disorders

2006 ◽  
Vol 48 (10) ◽  
pp. 863
Author(s):  
Josef Finsterer ◽  
Claudia Stöllberger
Keyword(s):  
Cardiac Involvement ◽  
Neuromuscular Disorders

scholarly journals P.053 A clinical mystery finally revealed

2021 ◽  
Vol 48 (s3) ◽  
pp. S34-S34
Author(s):  
Z Aljohani ◽  
S Venance
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Cardiac Involvement ◽  
Neuromuscular Disorders ◽  
The Other ◽  
Postural Muscle ◽  
Trunk Musculature ◽  
Definition Of ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Background: We report 2 brothers sharing FHL1 identified mutation. They presented in childhood with overlapping clinical features characterized by early onset stiffness and increased muscle definition with cardiac involvement. After 30 years of neurological followup, the diagnosis is finally revealed. Methods: At early ages, both had increased definition of upper trunk musculature. The older brother had hypophonic voice with raspy character, which is to our knowledge, not reported with this mutation before. He required a pacemaker for arrhythmias, while the younger developed congestive heart failure. Results: Their initial investigations failed to unveil a diagnosis, including a negative next generation sequencing (NGS) panel for AR LGMD. An expanded NGS sent on the older brother revealed he is hemizygous for 1770 bp deletion within FHL 1 gene, this deletion includes exon 7to 8, and confirmed on the other. Conclusions: First reported in 2008, FHL1 mutations result in phenotypically distinct neuromuscular disorders: X-linked myopathy with Postural Muscle Atrophy and generalized hypertrophy, X-linked dominant scapuloperoneal Myopathy, and Reducing Body Myopathy. Subsequently other phenotypes have been reported including Emery-Dreifuss muscular dystrophy and hypertrophic cardiomyopathy. Our patients present with a phenotype that had been reported with FHL1 mutation, highlighting the possible recognition of this presentation in aiding a diagnostic approach.

scholarly journals Neuromuscular diseases and Covid-19: Advices from scientific societies and early observations in Italy

2020 ◽  
Vol 30 (2) ◽  
pp. 286-290 ◽  
Author(s):  
Corrado Angelini ◽  
Gabriele Siciliano
Keyword(s):  
Pompe Disease ◽  
Continuous Monitoring ◽  
Cardiac Involvement ◽  
Neuromuscular Disorders ◽  
Neuromuscular Diseases ◽  
Muscular Weakness ◽  
Medical Providers ◽  
Scientific Societies ◽  
Airway Clearance ◽  
To Receive

The risk of a severe course of COVID-19 is increased in patients suffering with Neuromuscular disorders (NMD) due to the following comorbidities: muscular weakness of the chest and diaphragm, use of ventilator supports and/or presence of tracheostoma, weak airway clearance, cardiac involvement, rhabdomyolysis, comoribities, steroid and immunosuppressant treatments. NMD display varying levels of disability in people with the same diagnosis, thus it is difficult to give COVID-19 related general recommendations. Present advicess were designed for patients, caregivers, general neurologists and non-specialist medical providers. They address frequently asked questions and basic service requirements and are supported by a series of in-depth references. In this truly unprecedented situation, the clinical management of neuromuscular patients during the COVID-19 epidemics - taking into account the related difficulties (patients who have suspended ERT, difficulty in contacting the doctors, etc.) - we propose to use a telemedicine device, i.e. the AIGkit application (AIGkit app), promoted and developed in 2018 by Fabrizio Seidita on behalf of the Italian Glycogenosis Association (AIG). The app was born to allow patients with Pompe disease to receive as far as possible continuous monitoring of their health. The support of all colleagues of the Italian Association for Myology (AIM) should extend its use to all NMD patients and beyond.

scholarly journals Neuromuscular diseases with hypertrophic cardiomyopathy

2018 ◽  
Vol 2018 (3) ◽  
Author(s):  
Sergi Cesar
Keyword(s):  
Structural Changes ◽  
Cardiac Involvement ◽  
Autosomal Dominant ◽  
Pediatric Population ◽  
Genetic Disorders ◽  
Adult Population ◽  
Neuromuscular Disorders ◽  
Neuromuscular Diseases ◽  
Rare Manifestation ◽  
Sarcomeric Genes

[first paragraph of article]Neuromuscular disorders are frequently associated with cardiac abnormalities, even in pediatric population. Cardiac involvement includes both structural changes and conduction disease. In general, HCM is a rare manifestation of neuromuscular diseases. Autosomal dominant inheritance with mutations in sarcomeric genes are described in about 60% of young adults and adult population with HCM. Other genetic disorders, such as inherited metabolic and neuromuscular diseases and other chromosome abnormalities are responsible of 5–10% of HCM in adults. We review the most frequent neuromuscular diseases related with HCM.

Expression of myogenic regulatory factors (MRFs) in human neuromuscular disorders

1997 ◽  
Vol 23 (6) ◽  
pp. 475-482 ◽  
Author(s):  
M. Olive ◽  
J. A. Martinez-Matos ◽  
P. Pirretas ◽  
M. Povedano ◽  
C. Navarro ◽  
...  
Keyword(s):  
Neuromuscular Disorders ◽  
Myogenic Regulatory Factors ◽  
Regulatory Factors

Cardiac troponin I in patients with acute upper and lower limb ischemia

VASA ◽  
2008 ◽  
Vol 37 (4) ◽  
pp. 327-332 ◽  
Author(s):  
Koutouzis ◽  
Sfyroeras ◽  
Moulakakis ◽  
Kontaras ◽  
Nikolaou ◽  
...  
Keyword(s):  
Upper Limb ◽  
Lower Limb ◽  
Cardiac Troponin ◽  
Cardiac Involvement ◽  
Troponin I ◽  
Limb Ischemia ◽  
Elevated Troponin ◽  
Troponin Elevation ◽  
Lower Limb Ischemia ◽  
Ischemia Group

Background: The aim of this study was to investigate the presence, etiology and clinical significance of elevated troponin I in patients with acute upper or lower limb ischemia. The high sensitivity and specificity of cardiac troponin for the diagnosis of myocardial cell damage suggested a significant role for troponin in the patients investigated for this condition. The initial enthusiasm for the diagnostic potential of troponin was limited by the discovery that elevated cardiac troponin levels are also observed in conditions other than acute myocardial infarction, even conditions without obvious cardiac involvement. Patients and Methods: 71 consecutive patients participated in this study. 31 (44%) of them were men and mean age was 75.4 ± 10.3 years (range 44–92 years). 60 (85%) patients had acute lower limb ischemia and the remaining (11; 15%) had acute upper limb ischemia. Serial creatine kinase (CK), isoenzyme MB (CK-MB) and troponin I measurements were performed in all patients. Results: 33 (46%) patients had elevated peak troponin I (> 0.2 ng/ml) levels, all from the lower limb ischemia group (33/60 vs. 0/11 from the acute upper limb ischemia group; p = 0.04). Patients with lower limb ischemia had higher peak troponin I values than patients with upper limb ischemia (0.97 ± 2.3 [range 0.01–12.1] ng/ml vs. 0.04 ± 0.04 [0.01–0.14] ng/ml respectively; p = 0.003), higher peak CK values (2504 ± 7409 [range 42–45 940] U/ml vs. 340 ± 775 [range 34–2403] U/ml, p = 0.002, respectively, in the two groups) and peak CK-MB values (59.4 ± 84.5 [range 12–480] U/ml vs. 21.2 ± 9.1 [range 12–39] U/ml, respectively, in the two groups; p = 0.04). Peak cardiac troponin I levels were correlated with peak CK and CK-MB values. Conclusions: Patients with lower limb ischemia often have elevated troponin I without a primary cardiac source; this was not observed in patients presenting with acute upper limb ischemia. It is very important for these critically ill patients to focus on the main problem of acute limb ischemia and to attempt to treat the patient rather than the troponin elevation per se. Cardiac troponin elevation should not prevent physicians from providing immediate treatment for limb ischaemia to these patients, espescially when signs, symptoms and electrocardiographic findings preclude acute cardiac involvement.

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