Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series
| Autor: | Paola D'Ambrosio, Alberto Palladino, Roberta Petillo, Luisa Politano, Andrea Antonio Papa |
|---|---|
| Přispěvatelé: | Papa, Andrea Antonio, D'Ambrosio, Paola, Petillo, Roberta, Palladino, Alberto, Politano, Luisa |
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
musculoskeletal diseases Duchenne muscular dystrophy medicine.medical_specialty Cardiomyopathy medicine.medical_treatment Review 030204 cardiovascular system & hematology X-linked dilated cardiomyopathy 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Stage (cooking) Muscular dystrophy Heart transplantation biology business.industry Medicine (all) Dilated cardiomyopathy General Medicine medicine.disease Duchenne/Becker carrier's cardiomyopathy 030104 developmental biology Becker muscular dystrophy Heart failure Cardiology biology.protein Dystrophin business |
| Popis: | Cardiomyopathy associated with dystrophinopathies [Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-dCM) and cardiomyopathy of Duchenne/Becker (DMD/BMD) carriers] is an increasing recognized manifestation of these neuromuscular disorders and notably contributes to their morbidity and mortality. Dystrophinopathic cardiomyopathy (DCM) is the result of the dystrophin protein deficiency at the myocardium level, parallel to the deficiency occurring at the skeletal muscle level. It begins as a “presymptomatic” stage in the first decade of life and evolves in a stepwise manner toward pictures of overt cardiomyopathy (hypertrophic stage, arrhythmogenic stage and dilated cardiomyopathy). The final stage caused by the extensive loss of cardiomyocytes results in an irreversible cardiac failure, characterized by frequent episodes of acute congestive heart failure (CHF), despite a correct pharmacological treatment. The picture of a severe dilated cardiomyopathy with intractable heart failure is typical of BMD, XL-dCM and cardiomyopathy of DMD/BMD carriers, while it is less frequently observed in patients with DMD. Heart transplantation (HT) is the only curative therapy for patients with dystrophinopathic end-stage heart failure who remain symptomatic despite an optimal medical therapy. However, no definitive figures exist in literature concerning the number of patients with DCM transplanted, and their outcome. This overview is to summarize the clinical outcomes so far published on the topic, to report the personal series of dystrophinopathic patients receiving heart transplantation and finally to provide evidence that heart transplantation is a safe and effective treatment for selected patients with end-stage DCM. |
| Databáze: | OpenAIRE |
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