Cardiac involvement in congenital myotonic dystrophy.

Forsberg, Håkan; Eriksson, Anders; Andersson, Staffan

doi:10.1136/hrt.63.2.119

Cited by 38 publications

(27 citation statements)

References 19 publications

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“…Eighteen men with adult onset DM1 were recruited from the Dystrophia Myotonica Center in Boden, northern Sweden, where the prevalence of the disease is exceptionally high (24). All patients included had clinically overt myotonia and muscular dystrophy.…”

Section: Subjectsmentioning

confidence: 99%

Abnormal release of incretins and cortisol after oral glucose in subjects with insulin-resistant myotonic dystrophy

Johansson

Olsson²,

Cederquist³

et al. 2002

European Journal of Endocrinology

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Objective: Although the incretins, gastric inhibitory polypeptide (GIP) and glucagon-like peptide-1 (GLP-1), as well as glucagon and cortisol, are known to influence islet function, the role of these hormones in conditions of insulin resistance and development of type 2 diabetes is unknown. An interesting model for the study of hormonal perturbations accompanying marked insulin resistance without concomitant diabetes is myotonic dystrophy (DM1). Design: The work was carried out in an out-patient setting. Methods: An oral glucose tolerance test was performed in 18 males with DM1 and 18 controls to examine the release of incretins and counter-regulatory hormones. Genetic analyses were also performed in patients. Results: We found that the increment in GLP-1 after oral glucose was significantly greater in patients, while there was no significant difference in GIP or glucagon responses between patients and controls, although long CTG repeat expansions were associated with a more pronounced GIP response. Interestingly, the GLP-1 response to oral glucose correlated with the insulin response in patients but not in controls whereas, in controls, the insulin response closely correlated with the GIP response. Furthermore, cortisol and ACTH levels increased paradoxically in patients after glucose; this was more pronounced in patients with long CTG repeat expansions. Conclusions: This study showed that the GLP-1 and ACTH/cortisol responses to oral glucose are abnormal in insulin-resistant DM1 patients and that CTG triplet repeats are linked to GIP release. These abnormalities may contribute both to the severe insulin resistance and hyperinsulinemia in DM1 and to the preservation of adequate islet function, enabling glucose tolerance to be normal in spite of this marked insulin resistance in DM1.

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Section: Subjectsmentioning

confidence: 99%

Abnormal release of incretins and cortisol after oral glucose in subjects with insulin-resistant myotonic dystrophy

Johansson

Olsson²,

Cederquist³

et al. 2002

European Journal of Endocrinology

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“…23 Inclusion in the study was based on medical grounds. All patients included had clinically overt myotonia and muscular dystrophy.…”

Section: Subjectsmentioning

confidence: 99%

Testosterone and diurnal rhythmicity of leptin, TNF-α and TNF-II receptor in insulin-resistant myotonic dystrophy patients

et al. 2002

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OBJECTIVE:To investigate the leptin and TNF systems in relation to testosterone in insulin resistant myotonic dystrophy (DM1) subjects. DESIGN AND SUBJECTS: Fasting morning samples and diurnal sampling during 24 h. Forty-two DM1 subjects (20 women and 22 men; age 41.5 (28.5 -58.7) y, body mass index (BMI) 23.3 (18.6 -29.2) kg=m 2 ; median and 10th and 90th percentile, respectively). Fifty healthy volunteers (23 women and 27 men; age 42 (27.0 -56.9) y, BMI 24.0 (20.7 -29.7) kg=m 2 ). Nine men with DM1 and nine healthy men participated in diurnal sampling. MEASUREMENTS: Body composition was measured by bioelectric impedance analysis. Circulating levels of leptin, TNF-a, TNFR-II, insulin, testosterone and lipids were measured. The number of CTG triplet repeats was analysed. RESULTS: Basal as well as median 24 h levels of leptin and TNFR-II were significantly increased in DM1 patients, independent of body fat mass. This was associated with higher insulin and lower testosterone levels in DM1 patients. The genetic defect was related to leptin and TNFR-II levels in DM1 patients. CONCLUSION: Hyperleptinemia in DM1 is clearly linked to the concomitant hypogonadism. The genetic defect may directly or indirectly contribute to increased leptin levels. Increased exposure of cytokines may contribute to insulin resistance and other hormonal disturbances in DM1.

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“…In a study of seven asymptomatic adolescences with CDM all had some ECG or echocardiographic abnormality with atrioventricular and intraventicular conduction defects in the majority [90]. Some echocardiography differences include mitral valve prolapse and fractional shortening reduction in later childhood [90,91]. In case series one can conclude that fatal arrhythmias are a common cause of mortality [41,55].…”

Section: Long Term Outcomementioning

confidence: 99%

“…Cardiac arrhythmia and hypertrophic cardiomyopathy have been described [88,89]. In a study of seven asymptomatic adolescences with CDM all had some ECG or echocardiographic abnormality with atrioventricular and intraventicular conduction defects in the majority [90]. Some echocardiography differences include mitral valve prolapse and fractional shortening reduction in later childhood [90,91].…”

Section: Long Term Outcomementioning

confidence: 99%

Congenital Myotonic Dystrophy

Campbell¹

2012

J Neurol Neurophysiol

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Cardiac involvement in congenital myotonic dystrophy.

Abstract: This study shows that the heart is often affected in young patients with congenital myotonic dystrophy. The specialised conduction system is often affected and so too is the myocardium, causing impaired systolic function.

Cited by 38 publications

References 19 publications

Abnormal release of incretins and cortisol after oral glucose in subjects with insulin-resistant myotonic dystrophy

Abnormal release of incretins and cortisol after oral glucose in subjects with insulin-resistant myotonic dystrophy

Testosterone and diurnal rhythmicity of leptin, TNF-α and TNF-II receptor in insulin-resistant myotonic dystrophy patients

Congenital Myotonic Dystrophy

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