November, 2005

Is your child's heart being managed properly?
The Hammersmith Hospital has issued these guidelines to PPUK for children with DMD and female carriers more...

March, 2005

(IN PRESS: J.Am.Cardiol 2005;45:855-7) Effect of Perindopril on the Onset and Progression of Left Ventricular Dysfunction in Duchenne Muscular Dystrophy

Denis Duboc, ,Christophe Meune, Guy Lerebours,  Jean-Yves Devaux, Guy Vaksmann,Henri-Marc Bécane, Paris, France

OBJECTIVES The aim of this research was to examine the effects of perindopril on cardiac function in patients with Duchenne muscular dystrophy (DMD).

BACKGROUND Duchenne muscular dystrophy, an inherited X-linked disease, is characterized by progressive muscle weakness and myocardial involvement.

RESULTS Phase I was completed by 56 (27 in group 1 and 29 in group 2) and phase II by 51 patients (24 in group 1 and 27 in group 2). There was no difference in baseline characteristics between the treatment groups. At the end of phase I, mean LVEF was 60.7 +7.6% in group 1 versus 64.4 + 9.8% in group 2, and was < 45% in a single patient in each group (p = NS). At 60 months, LVEF was 58.6 + 8.1% in group 1 versus 56.0 + 15.5% in group 2 (p = NS). A single patient had an LVEF < 45% in group 1 versus eight patients in group 2 (p = 0.02).

CONCLUSIONS Early treatment with perindopril delayed the onset and progression of prominent left ventricle dysfunction in children with DMD.

2004, August  Respiratory Care of the Patient with Duchenne Muscular Dystrophy - ATS Consensus Statement

2004, March:   Info to the childs teacher, healt-care people:

Specific cognitive deficits are common in children with Duchenne muscular dystrophy.

Wicksell RK, Kihlgren M, Melin L, Eeg-Olofsson O.

Department of Psychology, Uppsala University, Sweden. Rikard.Wicksell@ks.se

A neuropsychological assessment was conducted to study cognition, with emphasis on memory, information processing/learning ability, and executive functions in boys with Duchenne muscular dystrophy (DMD). A group of 20 boys with DMD, aged 7 to 14 years (mean age 9 years 5 months, SD 2 years 2 months), was contrasted with 17 normally developing age-matched comparison individuals, using specific neuropsychological tests (Block Span, Digit Span, Story Recall, Rey Auditory Verbal Learning Test, Rey Complex Figure Test, Spatial Learning Test, Verbal Fluency, Trail Making Test, Tower of London, Memory for Faces, and Raven's Coloured Progressive Matrices). The DMD group performed significantly worse on all aspects of memory, learning, and executive functions. There was no significant difference in general intellectual ability between the two groups. Analyses of group differences indicate that problems in short-term memory are the most apparent, suggesting specific cognitive deficits. The differences between the groups were similar for both verbal-auditory and visuospatial tests, thus contradicting the idea that cognitive deficits are related to type of stimulus presented. It is concluded from this study that short-term memory deficits might play a critical role in the cognitive impairment and intellectual development seen in those with DMD.

Sixteen participants from Austria, France, Germany, Italy, the Netherlands and the UK met to discuss the cardiac implications of the diagnosis of muscular dystrophy and myotonic dystrophy. The group included both myologists and cardiologists from nine different European centers. The aims of the workshop were to agree and report minimum recommendations for the investigation and treatment of cardiac involvement in muscular and myotonic dystrophies,and define areas where further research is needed.

 DMD

1) Patients should have a cardiac investigation (echo and electrocardiogram (ECG)) at diagnosis.

2) DMD patients should have cardiac investigations before any surgery, every 2 years to age 10 and annually after age 10.

3) Respiratory failure is also common in DMD and assessment and treatment of respiratory function should be performed in parallel with the cardiological investigations

4) Patients should be treated with angiotensin-converting enzyme (ACE) inhibitors initially in the presence of progressive abnormalities. Subsequently the addition of beta blockers should be considered.

5) There is no evidence that the currently used steroid treatment regimes have a detrimental effect on cardiac involvement or are a contraindication for the concurrent use of ACE inhibitors.

6) The multiple other complications of DMD including scoliosis and respiratory failure mean that these patients are rarely fit for cardiac transplantation.

7) There is an urgent need for multi-centre clinical trials to determine whether treatment of patients with cardiomyopathy, prior to the onset of symptoms, improves prognosis and quality of life. There is also unpublished evidence to suggest that treatment even before any impairment of ventricular function is detectable on echocardiogram may delay the onset and progression of cardiomyopathy. Concerns about the possible impact of ACE-inhibition on left ventricular development in very young children, means that treatment in the very young should only be undertaken in the context of a formal clinical trial, at the present time.

8) There is a case for continued evaluation of more sophisticated tools (echo tissue Doppler imaging, cardiac magnetic resonance imaging (MRI), etc.) for earlier detection of abnormalities, but these are not required for routine management.

 BMD

Cardiac involvement in BMD is common and is frequently out of proportion to the skeletal muscle involvement.

1) BMD patients should have cardiac evaluation (ECG and echo) at diagnosis.

2) BMD patients should be screened for the development of cardiomyopathy at least every 5 years.

3) They should be seen more regularly and treated with ACE inhibitors and, if indicated, beta blockers when progressive abnormality is found.

4) Cardiac transplantation may be a viable treatment in this group of patients.

 Female carriers of DMD and BMD

There is unequivocal evidence that approximately 10% of female carriers of dystrophin mutations, either DMD or BMD develop overt cardiac failure even in the absence of any skeletal muscle involvement.

1)All carriers of DMD or BMD should have echo and ECG at diagnosis or after the age of 16 years and at least every 5 years thereafter, or more frequently in patients with abnormalities on investigation.

2) Carriers manifesting severe skeletal muscle symptoms or cardiac symptoms require more frequent investigation.

3) Once significant abnormalities are detected patients may benefit from treatment with ACE inhibitors and additional medication as indicated.

4) Ultimately cardiac transplantation may be appropriate