scholarly journals Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine

2018 ◽  
Vol 7 (9) ◽  
pp. 291 ◽  
Author(s):  
Domenico D’Amario ◽  
Aoife Gowran ◽  
Francesco Canonico ◽  
Elisa Castiglioni ◽  
Davide Rovina ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Cardiac Disease ◽  
Clinical Aspects ◽  
Advanced Imaging ◽  
Limited Effect ◽  
Medical Teams ◽  
Dystrophic Cardiomyopathy ◽  
Duchenne's Muscular Dystrophy ◽  
Symptomatic Carrier ◽  
Disease Specific

Duchenne’s muscular dystrophy is an X-linked neuromuscular disease that manifests as muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of carrier females are often diagnosed with cardiomyopathy at an advanced stage. Existing therapy is not disease-specific and has limited effect, thus many patients and symptomatic carrier females prematurely die due to heart failure. Early detection is one of the major challenges that muscular dystrophy patients, carrier females, family members and, research and medical teams face in the complex course of dystrophic cardiomyopathy management. Despite the widespread adoption of advanced imaging modalities such as cardiac magnetic resonance, there is much scope for refining the diagnosis and treatment of dystrophic cardiomyopathy. This comprehensive review will focus on the pertinent clinical aspects of cardiac disease in muscular dystrophy while also providing a detailed consideration of the known and developing concepts in the pathophysiology of muscular dystrophy and forthcoming therapeutic options.

scholarly journals Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy

Cells ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 349
Author(s):  
Sholeh Bazrafshan ◽  
Hani Kushlaf ◽  
Mashhood Kakroo ◽  
John Quinlan ◽  
Richard C. Becker ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Electronic Medical Records ◽  
Cardiac Disease ◽  
Medical Records ◽  
Care Center ◽  
Neuromuscular Disorders ◽  
Next Generation Sequencing Data ◽  
Comparative Genomic ◽  
Genetic Modifiers ◽  
Cardiac Phenotype

Novel genetic variants exist in patients with hereditary neuromuscular disorders (NMD), including muscular dystrophy. These patients also develop cardiac manifestations. However, the association between these gene variants and cardiac abnormalities is understudied. To determine genetic modifiers and features of cardiac disease in NMD patients, we have reviewed electronic medical records of 651 patients referred to the Muscular Dystrophy Association Care Center at the University of Cincinnati and characterized the clinical phenotype of 14 patients correlating with their next-generation sequencing data. The data were retrieved from the electronic medical records of the 14 patients included in the current study and comprised neurologic and cardiac phenotype and genetic reports which included comparative genomic hybridization array and NGS. Novel associations were uncovered in the following eight patients diagnosed with Limb-girdle Muscular Dystrophy, Bethlem Myopathy, Necrotizing Myopathy, Charcot-Marie-Tooth Disease, Peripheral Polyneuropathy, and Valosin-containing Protein-related Myopathy. Mutations in COL6A1, COL6A3, SGCA, SYNE1, FKTN, PLEKHG5, ANO5, and SMCHD1 genes were the most common, and the associated cardiac features included bundle branch blocks, ventricular chamber dilation, septal thickening, and increased outflow track gradients. Our observations suggest that features of cardiac disease and modifying gene mutations in patients with NMD require further investigation to better characterize genotype–phenotype relationships.

Myocardial Performance Index and Atrial Ejection Force in Patients with Duchenne's Muscular Dystrophy

2011 ◽  
Vol 28 (10) ◽  
pp. 1088-1094 ◽  
Author(s):  
Reza Shabanian ◽  
Mina Aboozari ◽  
Abdolrazagh Kiani ◽  
Soroush Seifirad ◽  
Gholamreza Zamani ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Performance Index ◽  
Myocardial Performance Index ◽  
Myocardial Performance ◽  
Ejection Force ◽  
Duchenne's Muscular Dystrophy

scholarly journals Disease-specific and glucocorticoid-responsive serum biomarkers for Duchenne Muscular Dystrophy

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Yetrib Hathout ◽  
Chen Liang ◽  
Michael Ogundele ◽  
Ganggang Xu ◽  
Shefa M. Tawalbeh ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Serum Biomarkers ◽  
Disease Specific

scholarly journals Barriers in Implementing the Dying Patient Law: The Israeli Experience - A Qualitative Study

2020 ◽  
Author(s):  
Avi Zigdon ◽  
Rachel Nissanholtz-Gannot
Keyword(s):  
End Of Life ◽  
Family Doctor ◽  
Clinical Aspects ◽  
Human Aspects ◽  
Life Issues ◽  
End Of Life Issues ◽  
Medical Teams ◽  
Depth Interviews ◽  
Training Physicians

Abstract Background Coping with end-of-life issues is a major challenge for governments and health systems. Despite progress in legislation, many barriers exist to its full implementation. This study is aimed at identifying these end-of-life barriers in relation to Israel.Methods Qualitative in-depth interviews using professionals and decision makers in the health-care and related systems (n=37) were carried out, along with two focus groups based on brainstorming techniques consisting of nurses (n=10) and social workers (n=10). Data was managed and analyzed using Naralyzer software.Results Qualitative analysis showed identification of six primary barriers: 1) law, procedures, and forms; 2) clinical aspects; 3) human aspects; 4) knowledge and skills of medical teams; 5) communication; and 6) resource allocation. These were further divided into 44 sub area barriers.Conclusions This study highlights the role of the family doctor in end-of-life by training physicians in decision-making workshops and increasing their knowledge in the field of palliative medicine. Effectively channeling resources, knowledge, and support for medical teams, by accounting for the structure and response of the units for home treatment will improve patient's access to information on and support for end-of-life laws, as well as reduce legislative barriers in other countries that face the same issues.

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