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      Management of cardiac involvement in muscular dystrophies: paediatric versus adult forms

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          Abstract

          Muscular dystrophies are a group of genetic disorders characterized by muscle degeneration and consequent substitution by fat and fibrous tissue. Cardiac involvement is an almost constant feature in a great part of these diseases, as both primary myocardial involvement and secondary involvement due to respiratory insufficiency, pulmonary hypertension or reduced mobility. Primary myocardial involvement usually begins more precociously compared to the secondary involvement. In fact the first signs of cardiomyopathy can be observed in the first decade of life in muscular dystrophies with childhood onset and later in adult form of muscular dystrophies as myotonic dystrophy type 1.

          At least an annual cardiac follow-up is recommended in these patients including clinical and instrumental examination (ECG, 24h Holter monitoring, ECHO), to detect cardiac involvement. A more frequent monitoring may be required according to the type of cardiomyopathy and the patient's needs.

          In this short review practical guide-lines are shown for physicians routinely involved in the management of these patients.

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          Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation.

          We reviewed the notes of 197 patients with Duchenne muscular dystrophy whose treatment was managed at the Newcastle muscle centre from 1967 to 2002, to determine whether survival has improved over the decades and whether the impact of nocturnal ventilation altered the pattern of survival. Patients were grouped according to the decade of death and whether or not they were ventilated. Kaplan Meier survival analyses showed significant decade on decade improvement in survival. Mean age of death in the 1960s was 14.4 years, whereas for those ventilated since 1990 it was 25.3 years. Cardiomyopathy significantly shortened life expectancy from 19 years to a mean age of 16.9 years. Better coordinated care probably improved the chances of survival to 25 years from 0% in the 1960s to 4% in the 1970s and 12% in the 1980s, but the impact of nocturnal ventilation has further improved this chance to 53% for those ventilated since 1990.
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            Population-based incidence and prevalence of facioscapulohumeral dystrophy.

            To determine the incidence and prevalence of facioscapulohumeral muscular dystrophy (FSHD) in the Netherlands. Using 3-source capture-recapture methodology, we estimated the total yearly number of newly found symptomatic individuals with FSHD, including those not registered in any of the 3 sources. To this end, symptomatic individuals with FSHD were available from 3 large population-based registries in the Netherlands if diagnosed within a 10-year period (January 1, 2001 to December 31, 2010). Multiplication of the incidence and disease duration delivered the prevalence estimate. On average, 52 people are newly diagnosed with FSHD every year. This results in an incidence rate of 0.3/100,000 person-years in the Netherlands. The prevalence rate was 12/100,000, equivalent to 2,000 affected individuals. We present population-based incidence and prevalence estimates regarding symptomatic individuals with FSHD, including an estimation of the number of symptomatic individuals not present in any of the 3 used registries. This study shows that the total number of symptomatic persons with FSHD in the population may well be underestimated and a considerable number of affected individuals remain undiagnosed. This suggests that FSHD is one of the most prevalent neuromuscular disorders. © 2014 American Academy of Neurology.
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              Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients

              Duchenne Muscular Dystrophy (DMD) is the most common muscle disease in children. Historically, DMD results in loss of ambulation between ages 7 and 13 years and death in the teens or 20s. In order to determine whether survival has improved over the decades and whether the impact of nocturnal ventilation combined with a better management of cardiac involvement has been able to modify the pattern of survival, we reviewed the notes of 835 DMD patients followed at the Naples Centre of Cardiomyology and Medical Genetics from 1961 to 2006. Patients were divided, by decade of birth, into 3 groups: 1) DMD born between 1961 and 1970; 2) DMD born between 1971 and 1980; 3) DMD born between 1981 and 1990; each group was in turn subdivided into 15 two-year classes, from 14 to 40 years of age. Age and causes of death, type of cardiac treatment and use of a mechanical ventilator were carefully analyzed. The percentage of survivors in the different decades was statistically compared by chi-square test and Kaplan-Meier survival curves analyses. A significant decade on decade improvement in survival rate was observed at both the age of 20, where it passed from 23.3% of patients in group 1 to 54% of patients in group 2 and to 59,8% in patients in group 3 (p < 0.001) and at the age of 25 where the survival rate passed from 13.5% of patients in group 1 to 31.6% of patients in group 2 and to 49.2% in patients in group 3 (p < 0.001). The causes of death were both cardiac and respiratory, with a prevalence of the respiratory ones till 1980s. The overall mean age for cardiac deaths was 19.6 years (range 13.4-27.5), with an increasing age in the last 15 years. The overall mean age for respiratory deaths was 17.7 years (range 11.6-27.5) in patients without a ventilator support while increased to 27.9 years (range 23-38.6) in patients who could benefit of mechanical ventilation. This report documents that DMD should be now considered an adulthood disease as well, and as a consequence more public health interventions are needed to support these patients and their families as they pass from childhood into adult age.
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                Author and article information

                Journal
                Acta Myol
                Acta Myol
                Pacini
                Acta Myologica
                Pacini Editore SRL
                1128-2460
                December 2016
                : 35
                : 3
                : 128-134
                Affiliations
                [1 ] Cardiomyology and Medical Genetics, Department of Experimental Medicine;
                [2 ] Arrhythmologic Unit, Department of Cardiology. University of Campania "Luigi Vanvitelli", Naples, Italy
                Author notes
                Address for correspondence: Luisa Politano, Cardiomiologia e Genetica Medica, Primo Policlinico, piazza Miraglia, 80138 Napoli. E-mail: luisa.politano@ 123456unicampania.it
                Article
                Pacini
                5416740
                aae29afc-3a6b-4ada-ab19-4b6856296129
                The journal and the individual contributions contained in it are protected by the copyright of Gaetano Conte Academy, Naples, Italy

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License, which permits for noncommercial use, distribution, and reproduction in any digital medium, provided the original work is properly cited and is not altered in any way. For details, please refer to http://creativecommons.org/licenses/by-nc-nd/3.0/

                History
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                Short Reviews

                Plant science & Botany
                muscular dystrophies,cardiomyopathy,dmd,bmd,steinert disease,edmd
                Plant science & Botany
                muscular dystrophies, cardiomyopathy, dmd, bmd, steinert disease, edmd

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