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5. Predictors of mortality and cardiovascular outcomes in Emery-Dreifuss muscular dystrophy in a long-term follow-up

Author

Marchel, Michał, primary, Madej-Pilarczyk, Agnieszka, additional, Steckiewicz, Roman, additional, Stolarz, Przemysław, additional, Peller, Michał, additional, Tymińska, Agata, additional, Ostrowska, Ewa, additional, Ozierański, Krzysztof, additional, Balsam, Paweł, additional, Grabowski, Marcin, additional, and Opolski, Grzegorz, additional

Published
2021
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13. A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy – a case report and review of the genotype–phenotype correlation

Author

Koppolu, Agnieszka A., primary, Madej-Pilarczyk, Agnieszka, additional, Rydzanicz, Małgorzata, additional, Kosińska, Joanna, additional, Gasperowicz, Piotr, additional, Dorszewska, Jolanta, additional, Kozubski, Wojciech, additional, Steinborn, Barbara, additional, Kochański, Andrzej M., additional, and Płoski, Rafał, additional

Published
2017
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16. Clinical aspects of Emery-Dreifuss muscular dystrophy.

Author

Madej-Pilarczyk, Agnieszka

Subjects
*MUSCULAR dystrophy, *DENDRITIC spines, *MUSCLE weakness
Abstract

Emery-Dreifuss muscular dystrophy (EDMD), clinically characterized by scapulo-humero-peroneal muscle atrophy and weakness, multi-joint contractures with spine rigidity and cardiomyopathy with conduction defects, is associated with structural/functional defect of genes that encode the proteins of nuclear envelope, including lamin A and several lamin-interacting proteins. This paper presents clinical aspects of EDMD in context to causative genes, genotype-phenotype correlation and its emplacement within phenotypic spectrum of skeletal muscle diseases associated with envelopathies. [ABSTRACT FROM AUTHOR]

Published
2019
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19. Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up

Author

Steckiewicz, Roman, primary, Stolarz, Przemysław, additional, Świętoń, Elżbieta, additional, Madej-Pilarczyk, Agnieszka, additional, Grabowski, Marcin, additional, Marchel, Michał, additional, Pieniak, Marian, additional, Filipiak, Krzysztof J., additional, Hausmanowa-Petrusewicz, Irena, additional, and Opolski, Grzegorz, additional

Published
2016
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22. Advances in basic and clinical research in laminopathies

Author

Politano, Luisa, Carboni, Nicola, Madej-Pilarczyk, Agnieszka, Michal Marchel, Nigro, Gerardo, Fidziaoska, Anna, Opolski, Grzegorz, Hausmanowa-Petrusewicz, Irena, Politano, Luisa, Carboni, N, Madej Pilarczyk, A, Marchel, M, Nigro, Gerardo, Fidziaóska, A, Opolski, G, and Hausmanowa Petrusewicz, I.

Subjects
Lamin A/C, congenital, hereditary, and neonatal diseases and abnormalities, Biomedical Research, integumentary system, Lipodystrophy, laminopathies, LMNA A/C gene, Lamins, Genetic Techniques, Emery-Dreifuss muscular dystrophy, embryonic structures, Humans, Genetic Predisposition to Disease, Workshop Report
Abstract

Lamins (LMNA) are the main proteins of the nuclear lamina considered to be the ancestors of all intermediate filament proteins. They form complex protein assemblies with integral proteins of the inner nuclear membrane, transcriptional regulators, histones and chromatin modifiers. During recent years, interest in lamins has greatly increased due to the identification of many distinct heritable human disorders associated with lamin mutations. These disorders, collectively termed laminopathies, range from muscular dystrophies to premature aging. They may affect muscle, fat, bone, nerve and skin tissues. The workshop was addressed to understand lamin organization and its roles in nuclear processes, mutations in lamins affecting cell and tissues functions, the biology of the nucleus and laminopathic disease mechanisms, all aspects important for designing future therapies.

Published
2013

27. Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells

Author

Jędrzejowska, Maria, primary, Madej-Pilarczyk, Agnieszka, additional, Fidziańska, Anna, additional, Mierzewska, Hanna, additional, Pronicka, Ewa, additional, Obersztyn, Ewa, additional, Gos, Monika, additional, Pronicki, Maciej, additional, Kmieć, Tomasz, additional, Migdał, Marek, additional, Mierzewska-Schmidt, Magdalena, additional, Walczak-Wojtkowska, Iwona, additional, Konopka, Elżbieta, additional, and Hausmanowa-Petrusewicz, Irena, additional

Published
2014
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31. A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome

Author

Al-Haggar, Mohammad, primary, Madej-Pilarczyk, Agnieszka, additional, Kozlowski, Lukasz, additional, Bujnicki, Janusz M, additional, Yahia, Sohier, additional, Abdel-Hadi, Dina, additional, Shams, Amany, additional, Ahmad, Nermin, additional, Hamed, Sahar, additional, and Puzianowska-Kuznicka, Monika, additional

Published
2012
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32. Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNAmutation p.Ser334del

Author

Madej-Pilarczyk, Agnieszka, Niezgoda, Adam, Janus, Magdalena, Wojnicz, Romuald, Marchel, Michał, Fidziańska, Anna, Grajek, Stefan, and Hausmanowa-Petrusewicz, Irena

Abstract

Laminopathies, a group of heterogeneous disorders associated with lamin A/C gene (LMNA) mutations, encompass a wide spectrum of clinical phenotypes, which may present as separate disease or as overlapping syndromes. We describe a 35-year-old female in whom a novel sporadic heterozygous mutation c.1001_1003delGCC (p.Ser334del) of the LMNAgene was found. The patient presented with overlapping syndrome of heart failure secondary to dilated cardiomyopathy, limb-girdle dystrophy and partial lipodystrophy. Endomyocardial biopsy revealed strong up-regulation of HLA classes I and II antigens on microvessels and induction of the class I antigens on cardiomyocytes. On muscle biopsy, a wide range of fiber sizes and small clusters of inflammatory infiltrations were found. In the rapid progression of heart failure with arrhythmias or conduction defect, accompanied with muscle atrophy and lipodystrophy, the genetic disease should be taken into consideration. In addition, undefined inflammatory response and fibrosis in the heart or skeletal muscle might further justify screening of the lamin A/C gene.

Published
2017
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38. X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.

Author

Viggiano, Emanuela, Madej-Pilarczyk, Agnieszka, Carboni, Nicola, Picillo, Esther, Ergoli, Manuela, del Gaudio, Stefania, Marchel, Michal, Nigro, Gerardo, Palladino, Alberto, and Politano, Luisa

Subjects
*MUSCULAR dystrophy, *FACIOSCAPULOHUMERAL muscular dystrophy, *ANDROGEN receptors, *ANALYSIS of variance, *ATRIAL arrhythmias, *HEART conduction system, *PHENOTYPES
Abstract

X-linked Emery–Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of conduction tissue anomalies. The aim of this study was to evaluate the relation between heart involvement in symptomatic EDMD1 carriers and the X-chromosome inactivation (XCI) pattern. The XCI pattern was determined on the lymphocytes of 30 symptomatic and asymptomatic EDMD1 female carriers—25 familial and 5 sporadic cases—seeking genetic advice using the androgen receptor (AR) methylation-based assay. Carriers were subdivided according to whether they were above or below 50 years of age. A variance analysis was performed to compare the XCI pattern between symptomatic and asymptomatic carriers. The results show that 20% of EDMD1 carriers had cardiac symptoms, and that 50% of these were ≥50 years of age. The XCI pattern was similar in both symptomatic and asymptomatic carriers. Conclusions: Arrhythmias in EDMD1 carriers poorly correlate on lymphocytes to a skewed XCI, probably due to (a) the different embryological origin of cardiac conduction tissue compared to lymphocytes or (b) the preferential loss of atrial cells replaced by fibrous tissue. [ABSTRACT FROM AUTHOR]

Published
2019
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40. Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study

Author

Agnieszka Madej-Pilarczyk, Vincenzo Russo, Agata Tymińska, Roman Steckiewicz, Ewa Ostrowska, Julia Wysińska, Marcin Grabowski, Michał Marchel, Grzegorz Opolski, Marchel, Michał, Madej-Pilarczyk, Agnieszka, Tymińska, Agata, Steckiewicz, Roman, Ostrowska, Ewa, Wysińska, Julia, Russo, Vincenzo, Grabowski, Marcin, and Opolski, Grzegorz

Subjects
LMNA, medicine.medical_specialty, Emerin, lcsh:Medicine, Laminopathy, 030204 cardiovascular system & hematology, Ventricular tachycardia, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Emery–Dreifuss muscular dystrophy, medicine, EMD, cardiovascular diseases, Muscular dystrophy, lamin A/C, Atrial standstill, emerin, business.industry, lcsh:R, Atrial fibrillation, General Medicine, medicine.disease, Cardiology, cardiovascular system, business, 030217 neurology & neurosurgery
Abstract

Introduction: Cardiac involvement in patients with muscular dystrophy associated with Lamin A/C mutations (LMNA) is characterized by atrioventricular conduction abnormalities and life-threatening cardiac arrhythmias. Little is known about cardiac involvement in patients with emerin mutation (EMD). The aim of our study was to describe and compare the prevalence and time distribution of cardiac arrhythmias at extended follow-up. Patients and methods: 45 consecutive patients affected by muscular dystrophy associated to laminopathy or emerinopathy were examined. All patients underwent clinical evaluation, 12-lead surface electrocardiogram (ECG), 24 h electrocardiographic monitoring, and cardiac implanted device interrogation. Results: At the end of 11 (5.0–16.6) years of follow-up, 89% of the patients showed cardiac arrhythmias. The most prevalent was atrial standstill (AS) (31%), followed by atrial fibrillation/flutter (AF/Afl) (29%) and ventricular tachycardia (22%). EMD patients presented more frequently AF/AFl compared to LMNA (50% vs. 20%, p = 0.06). Half of the EMD patients presented with AS, whilst there was no occurrence of such in the LMNA (p = 0.001). Ventricular arrhythmias were found in 60% of patients with laminopathy compared to 3% in patients with emerinopathy (p &lt, 0.001). The age of AVB occurrence was higher in the LMNA group (32.8 +/− 10.6 vs. 25.1 +/− 9.1, p = 0.03). Conclusions: Atrial arrhythmias are common findings in patients with muscular dystrophy associated with EMD/LMNA mutations, however, they occurred earlier in EMD patients. Ventricular arrhythmias were very common (60%) in LMNA and occurred definitely earlier compared to the EMD group.

Published
2021

41. Cardiac involvement in laminopathies – short invited review

Author

Alberto Palladino, Grzegorz Opolski, Gerardo Nigro, Nicola Carboni, Agnieszka Madej-Pilarczyk, Luisa Politano, Michał Marchel, Irena Hausmanowa-Petrusewicz, Nigro, Gerardo, Carboni, Nicola, Marchel, Michal, Palladino, Alberto, Madej Pilarczyk, Agnieszka, Opolski, Grzegorz, Hausmanowa Petrusewicz, Irena, and Politano, Luisa

Subjects
LMNA mutation, medicine.medical_specialty, Laminopathie, business.industry, Family medicine, lcsh:R, medicine, lcsh:Medicine, Medical genetics, General Medicine, Cardiolaminopathie, business
Abstract

Mutations in lamins, which are ubiquitous nuclear intermediate filaments, lead to a variety of disorders, described as laminopathies or nuclear envelopathies, that include both X-linked and autosomal dominant forms of Emery-Dreifuss muscular dystrophy (EDMD), dilated cardiomyopathy with conduction system defects (DCM-CD), limb girdle muscular dystrophy 1B (LGMD1B) with atrioventricular conduction disturbances, Dunnigan-type familial partial lipodystrophy (FPLD), mandibuloacral dysplasia (MAD), and autosomal recessive forms of axonal Charcot-Marie-Tooth (ARCMT2, CMT2B) and progeria syndromes. Cardiac involvement in laminopathies can be isolated or more frequently associated with muscle involvement. The vast majority of patients develop dysrhythmias after the age of 30 years, and many undergo pace maker (P.M.) or cardioverter defibrillator implantation; heart failure is relatively frequent after the age of 50 but it occurs less commonly than dysrhythmias. Both tachy-arrhythmias and brady-arrhythmias may occur also in LMNA mutated patients presenting a congenital or early onset of the disease. Sudden cardiac death (SCD) is the modality of exitus most frequently observed even in implanted patients, indicating that subjects carrying LMNA gene mutations are at high risk of sudden death and that P.M. implantation is unable to protect them against this dramatic event. The identification of parameters able to stratify the patients at risk is of considerable utility in clinical practice.

Published
2015

43. [Nucleopathies in children].

Author

Madej-Pilarczyk A

Subjects
Adolescent, Child, Child, Preschool, Female, Humans, Infant, Male, Mutation, Neuromuscular Diseases diagnosis, Neuromuscular Diseases genetics, Progeria diagnosis, Progeria genetics, Aging, Premature diagnosis, Aging, Premature genetics, Lamin Type A genetics, Lipodystrophy diagnosis, Lipodystrophy genetics, Metabolism, Inborn Errors diagnosis, Metabolism, Inborn Errors genetics
Abstract

Nucleopathies belong to a group of rare diseases, associated with nuclear protein abnormalities. The best characterized are laminopathies, depending on lamin A/C gene mutations and affecting tissues of mesenchymal origin. Among the so-called tissue-specific nucleopathies striated muscles and/or cardiac are the most frequently affected, among multisystemic nucleopathies, premature aging syndromes are particularly significant. Nucleopathies from both groups may be ranked in terms of age of first symptoms and the disease severity. Those which occur earlier, sometimes even in prenatal period, have the most serious, almost always lethal course. The article presents clinical description of nucleopathies in children, their causative mutations and pathophysiology.

Published
2010

44. Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest.

Author

Hausmanowa-Petrusewicz I, Madej-Pilarczyk A, Marchel M, and Opolski G

Subjects
DNA genetics, Female, Follow-Up Studies, Heart Diseases complications, Heterozygote, Humans, Male, Muscular Dystrophy, Emery-Dreifuss complications, Phenotype, Heart Diseases genetics, Lamin Type A genetics, Membrane Proteins genetics, Muscular Dystrophy, Emery-Dreifuss genetics, Nuclear Proteins genetics
Abstract

Background and Purpose: The authors present the results of a 4-year follow-up of patients with Emery-Dreifuss dystrophy (EDMD) included in a project on laminopathies. The focus of the discussion is on the clinical and genetic characteristics, and the classification of the two forms of Emery-Dreifuss dystrophy [i.e. associated with either emerinopathy (EDMD1) or laminopathy (EDMD2)]., Material and Methods: The study includes 37 patients from 12 families with EDMD, 28 having emerinopathy and 9 with laminopathy. On the basis of findings from clinical examination and laboratory tests (24-hour ECG monitoring, echocardiography, histological and immunohistochemical studies of muscle), the authors describe phenotypes of the two forms of Emery-Dreifuss dystrophy, the natural course of the disease, and a possible severe cardiovascular involvement which may lead to severe cardiac complications and sudden death. The patients with EDMD were treated mainly by cardiologists. Besides symptomatic management, implantation of a cardiac pacemaker or cardioverter-defibrillator is often required., Conclusions: The intrafamilial and interfamilial variability of laminopathies is discussed in relation to interactions between nuclear proteins. Since the EDMD carrier state in females is associated with cardiac symptoms (without skeletal muscle involvement), systematic cardiological supervision is indicated. Likewise, there are certain patients presenting a typical EDMD phenotype in which no mutations in the EMD or LMNA genes can be confirmed. This may indicate that an Emery-Dreifuss-like dystrophy could also be associated with mutations in other genes.

Published
2009

45. [Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA].

Author

Jedrzejowska M, Madej-Pilarczyk A, Zimowski J, and Hausmanowa-Petrusewicz I

Subjects
Adult, Gene Deletion, Genetic Predisposition to Disease, Humans, Infant, Male, Phenotype, Polymerase Chain Reaction, Polymorphism, Genetic, SMN Complex Proteins, Survival of Motor Neuron 1 Protein, Cyclic AMP Response Element-Binding Protein genetics, Fathers, Muscular Atrophy, Spinal genetics, Nerve Tissue Proteins genetics, Nuclear Family, RNA-Binding Proteins genetics
Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disorder caused by mutations of the SMN1 gene. Because of the autosomal recessive type of transmission, the genetic risk of the disease in the following generations is small and is estimated to be about 1%. Here we present a case report of a father and son suffering from SMA. The father is affected with a mild form of SMA, with onset at about 13 years of age. The son suffers from SMA type 2, with onset at about 13 months of age. In both father and son, genetic analysis showed biallelic deletion of exons 7 and 8 in the SMN1 gene. The boy's mother is a carrier of the deletion at the SMA locus. Quantitative analysis revealed one copy of the SMN1 gene.

Published
2006

46. [Hutchinson-Gilford progeria in the light of contemporary genetics].

Author

Madej-Pilarczyk A

Subjects
Aging genetics, Alleles, Alternative Splicing genetics, Animals, Germ-Line Mutation, Humans, Mice, Progeria diagnosis, Lamin Type A genetics, Mutation genetics, Progeria genetics
Abstract

Hutchinson-Gilford progeria causing premature aging of children is a genetic disease and according to most authors has an autosomal dominant inheritance. It has been regarded as a model of the process of aging. In 2003 mutations in the LMNA gene, localized f in chromosome 1, responsible for the disease, were identified. The most frequent mutation is located in exon 11, C1824T and does not change glycin in position 608 of protein chain, but activates cryptic splice site. This results in shortened lamin A synthesis which is named progerin. Point mutations in other exons of LMNA, found in progeria patients, are responsible for atypical phenotypes.

Published
2006

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