Sudden cardiac death in myotonic dystrophy type 2

Schöser, Benedikt; Ricker, K.; Schneider‐Gold, Christiane; Hengstenberg, Christian; Dürre, J.; Bültmann, B.; Kreß, Wolfram; Day, John W.; Ranum, Laura P.W.

doi:10.1212/01.wnl.0000147335.10783.e4

Cited by 102 publications

(55 citation statements)

References 10 publications

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“…However, it is not settled if this is true in all situations or if the phenotype can extend beyond the currently known variation. As the DM2 mutation may also cause cardiac conduction defects and sudden cardiac death as early as in middle age, 30 the timely identification of DM2 mutations in carriers is of major clinical importance. Mutation carriers may present to a wide range of clinical specialties: neurology, cardiology, internal medicine, ophthalmology, rheumatology, endocrinology and so on.…”

Section: Discussionmentioning

confidence: 99%

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

et al. 2011

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Myotonic dystrophy (DM) is the most common adult-onset muscular dystrophy with an estimated prevalence of 1/8000. There are two genetically distinct types, DM1 and DM2. DM2 is generally milder with more phenotypic variability than the classic DM1. Our previous data on co-segregation of heterozygous recessive CLCN1 mutations in DM2 patients indicated a higher than expected DM2 prevalence. The aim of this study was to determine the DM2 and DM1 frequency in the general population, and to explore whether the DM2 mutation functions as a modifier in other neuromuscular diseases (NMD) to account for unexplained phenotypic variability. We genotyped 5535 Finnish individuals: 4532 normal blood donors, 606 patients with various non-myotonic NMD, 221 tibial muscular dystrophy patients and their 176 healthy relatives for the DM2 and DM1 mutations. We also genotyped an Italian idiopathic non-myotonic proximal myopathy cohort (n¼93) for the DM2 mutation. In 5496 samples analyzed for DM2, we found three DM2 mutations and two premutations. In 5511 samples analyzed for DM1, we found two DM1 mutations and two premutations. In the Italian cohort, we identified one patient with a DM2 mutation. We conclude that the DM2 mutation frequency is significantly higher in the general population (1/1830; P-value¼0.0326) than previously estimated. The identification of DM2 mutations in NMD patients with clinical phenotypes not previously associated with DM2 is of particular interest and is in accord with the high overall prevalence. On the basis of our results, DM2 appears more frequent than DM1, with most DM2 patients currently undiagnosed with symptoms frequently occurring in the elderly population.

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Section: Discussionmentioning

confidence: 99%

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

et al. 2011

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“…[10][11][12] Also sudden cardiac death occurred in these patients. 13 Background-Myotonic dystrophy type 2 (DM2) is a genetic disorder characterized by skeletal muscle symptoms, metabolic changes, and cardiac involvement. Histopathologic alterations of the skeletal muscle include fibrosis and fatty infiltration.…”

Section: See Editorial By Shah and Semigran See Clinical Perspectivementioning

confidence: 99%

“…18,19 Similar morphological changes were described in DM2 in histological reports. 13 In this study, we aimed to use the CMR to investigate whether subclinical myocardial alterations in patients with DM2 were detectable in preserved LV function.…”

Section: See Editorial By Shah and Semigran See Clinical Perspectivementioning

confidence: 99%

Cardiac Involvement in Myotonic Dystrophy Type 2 Patients With Preserved Ejection Fraction

Schmacht

Traber

Grieben

et al. 2016

Circ: Cardiovascular Imaging

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H magnetic resonance spectroscopy were performed. Extracellular volume fraction was calculated. Conduction abnormalities were diagnosed based on Groh criteria. LGE located subepicardial basal inferolateral was detectable in 22% of the patients. Extracellular volume was increased in this region and in the adjacent medial inferolateral segment (P=0.03 compared with healthy controls). In 21% of patients with DM2, fat deposits were detectable (all women). The control group showed no abnormalities. Myocardial triglycerides were not different in LGE-positive and LGE-negative subjects (P=0.47). Six patients had indicators for conduction disease (60% of LGE-positive patients and 12.5% of LGE-negative patients). Conclusions-In DM2, subclinical myocardial injury was already detectable in preserved left ventricular ejection fraction.

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“…Three of the patients had no prior cardiac symptomatology, and one patient had a history of heart failure. 19 Cardiac histopathology showed dilated cardiomyopathy in all four patients and conduction system fibrosis in two patients with pathogenetic DM2-specific ribonuclear inclusions demonstrable in cardiomyocytes. 19 In DM2 patients without overt cardiac disease, magnetic resonance spectroscopy of the left ventricular myocardium has found evidence of the existence of subclinical cardiomyopathy.…”

Section: Discussionmentioning

confidence: 83%

“…19 Cardiac histopathology showed dilated cardiomyopathy in all four patients and conduction system fibrosis in two patients with pathogenetic DM2-specific ribonuclear inclusions demonstrable in cardiomyocytes. 19 In DM2 patients without overt cardiac disease, magnetic resonance spectroscopy of the left ventricular myocardium has found evidence of the existence of subclinical cardiomyopathy. 20 In our series, only one patient had clinically significant cardiomyopathy, which was attributed to chemotherapy and coronary artery disease.…”

Section: Discussionmentioning

confidence: 83%

Anesthésie et dystrophie myotonique de type 2: une série de cas

Weingarten

Höfer

Milone

et al. 2010

Can J Anesth/J Can Anesth

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Background Myotonic dystrophy type 2 (DM2) is a genetically distinct disorder that shares some phenotypical features of myotonic dystrophy type 1 (DM1). However, anesthetic management of patients with DM2 has not been described. The purpose of this study is to report the anesthetic management of a series of patients with DM2 and to describe their response to anesthesia. Methods We performed a computerized search of the Mayo Clinic medical records database looking for patients with DM2 who underwent general anesthesia. The medical records were reviewed for anesthetic technique, medications used, and postoperative complications. Results We identified 19 patients with DM2 who underwent 39 general anesthetics, 17 monitored anesthetic care cases, and two regional anesthetics. The patients exhibited normal responses to succinylcholine, nondepolarizing neuromuscular blockers, neostigmine, induction agents, and volatile anesthetics. Serious postoperative complications related to DM2 did not occur. Conclusion In our series, patients with DM2 tolerated commonly used anesthetics without obvious complications, and they exhibited normal responses to muscle relaxants. These observations suggest that these medications may be used safely in patients with DM2.

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Sudden cardiac death in myotonic dystrophy type 2

Cited by 102 publications

References 10 publications

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

Cardiac Involvement in Myotonic Dystrophy Type 2 Patients With Preserved Ejection Fraction

Anesthésie et dystrophie myotonique de type 2: une série de cas

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