108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13–15 September 2002, Naarden, The Netherlands

Bonne, Gisèle; Yaou, Rabah Ben; Béroud, Christophe; Boriani, Giuseppe; Brown, Susan C.; Visser, Marjolein; Duboc, Denis; Ellis, Juliet A.; Hausmanowa-Pétrusewicz, I; Lattanzi, Giovanna; Merlini, Luciano; Morris, Glenn E.; Muntoni, Francesco; Opolski, Grzegorz; Pinto, Yigal M.; Sangiuolo, Federica; Toniolo, Daniela; Trembath, Richard C.; Berlo, Jop H. van; Kooi, Anneke J. van der; Wehnert, Manfred

doi:10.1016/s0960-8966(03)00063-4

Cited by 83 publications

(64 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The most common clinical manifestations are dizziness, syncope, palpitations, or even ischemic stroke due to cardioembolism (in the case of atrial fibrillation or atrial standstill) but also ventricular tachyarrhythmias and sudden death and/or worsening heart failure may occur, the latter usually at a later stage in the course of the disease [4,21–24]. We will describe the clinical characteristics of these symptoms, focusing on the need for a disease-oriented decision-making.…”

Section: Cardiac Manifestations Of Laminopathies and Clinical Decisiomentioning

confidence: 99%

“…Usually, the expression of a pattern of dilated cardiomyopathy follows that of the arrhythmic manifestations, or the two manifestations can be associated at the time of the first diagnosis [6]. Dilated cardiomyopathy related to laminopathies can present an aggressive and rapid evolution to very severe and potentially life-threatening conditions, with a worse natural history in comparison with other forms of non-ischemic dilated cardiomyopathy [6,21]. In these cases of progressive and worsening heart failure, other options in addition to pharmacological treatment can be considered.…”

Section: Dilated Cardiomyopathymentioning

confidence: 99%

See 1 more Smart Citation

Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes

Boriani

Biagini

Ziacchi

et al. 2018

Nucleus

Self Cite

View full text Add to dashboard Cite

Lamin A/C gene mutations can be associated with cardiac diseases, usually referred to as ‘cardiolaminopathies’ characterized by arrhythmic disorders and/or left ventricular or biventricular dysfunction up to an overt picture of heart failure. The phenotypic cardiac manifestations of laminopathies are frequently mixed in complex clinical patterns and specifically may include bradyarrhythmias (sinus node disease or atrioventricular blocks), atrial arrhythmias (atrial fibrillation, atrial flutter, atrial standstill), ventricular tachyarrhythmias and heart failure of variable degrees of severity. Family history, physical examination, laboratory findings (specifically serum creatine phosphokinase values) and ECG findings are often important ‘red flags’ in diagnosing a ‘cardiolaminopathy’. Sudden arrhythmic death, thromboembolic events or stroke and severe heart failure requiring heart transplantation are the most dramatic complications of the evolution of cardiolaminopathies and appropriate risk stratification is clinically needed combined with clinical follow-up. Treatment with cardiac electrical implantable devices is indicated in case of bradyarrhythmias (implant of a device with pacemaker functions), risk of life-threatening ventricular tachyarrhythmias (implant of an ICD) or in case of heart failure with wide QRS interval (implant of a device for cardiac resynchronization). New technologies introduced in the last 5 years can help physicians to reduce device-related complications, thanks to the extension of device longevity and availability of leadless pacemakers or defibrillators, to be implanted in appropriately selected patients. An improved knowledge of the complex pathophysiological pathways involved in cardiolaminopathies and in the determinants of their progression to more severe forms will help to improve clinical management and to better target pharmacological and non-pharmacological treatments.

show abstract

Section: Cardiac Manifestations Of Laminopathies and Clinical Decisiomentioning

confidence: 99%

Section: Dilated Cardiomyopathymentioning

confidence: 99%

Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes

Boriani

Biagini

Ziacchi

et al. 2018

Nucleus

Self Cite

View full text Add to dashboard Cite

show abstract

“…in 6784 and 921; p.L84PfsX7 in 2877 and AT). A total of 386 patients carrying genomic EMD mutations are listed in the Universal Mutation Database on EMD mutations (UMD-EMD; http://www.umd.be/EMD/), 3 which was last updated in December 2010. This lists 125 different mutations in 112 probands.…”

Section: Clinical and Genetic Information On 23 Referrals Positive Fomentioning

confidence: 99%

“…Both inter-and intra-familial variability in clinical symptomatology and age of onset occurs. 3 Distinguishing EDMD from other overlapping phenotypes, such as Becker muscular dystrophy, limb-girdle muscular dystrophy, facioscapulohumeral muscular dystrophy (FSHD), spinal muscular dystrophy and rigid spine syndrome, 4 can be difficult without genetic testing. 5 Five genes have been associated with the EDMD phenotype (EMD, LMNA, FHL1, SYNE1 and SYNE2), but collectively they only account for 46% of EDMD patients, 6 suggesting the existence of other genes involved in the development of this disorder.…”

Section: Introductionmentioning

confidence: 99%

“…The autosomal form of the disease is generally more severe than X-EDMD, with an average age of onset of 32 months and the cardiomyopathy developing in the early teens, but overall exhibiting a wider range of clinical severity. 3,17 Only one gene has been linked to typical A-EDMD (MIM #181 350): the LMNA gene (1q21.3; Bonne et al 18 ). Alternative splicing of LMNA produces the intermediate filament proteins, nuclear lamin A and C, which form the nuclear lamina on the inside of the inner nuclear membrane.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot

Brown¹,

Scharner

Felice

et al. 2011

J Hum Genet

View full text Add to dashboard Cite

Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disorder exhibiting a cardiomyopathy with cardiac conduction defects. X-linked EDMD arises from mutations in the EMD gene, which encodes for a nuclear membrane protein termed emerin. In this study, we describe novel and recurrent EMD mutations identified in 18 probands and three carriers from a cohort of 255 North American patients referred for EDMD genetic mutation analysis. Eight of these mutations are novel including six frameshift mutations (p.D9GfsX24, p.F39SfsX17, p.R45KfsX16, p.F190YfsX19, p.R203PfsX34 and p.R204PfsX7) and two non-sense mutations (p.S143X, p.W200X). Our data augment the number of EMD mutations by 13.8%, equating to an increase of 5.2% in the total known EMD mutations and to an increase of 6.0% in the number of different mutations. Analysis of the exon distribution of mutations within the EMD gene, suggests a nonrandom distribution, with exon 2 as a hot spot. This phenomenon may be due to its high GC content, which at 60% is the most GC-rich exon in the EMD gene.

show abstract

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Quijano‐Roy

Mbieleu

Bönnemann

et al. 2008

Annals of Neurology

Self Cite

258

235

View full text Add to dashboard Cite

show abstract

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13–15 September 2002, Naarden, The Netherlands

Cited by 83 publications

References 13 publications

Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes

Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes

Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Contact Info

Product

Resources

About