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first_pagesettingsOrder Article Reprints Open AccessCase Report A Family with a Single LMNA Mutation Illustrates Diversity in Cardiac Phenotypes Associated with Laminopathic Progeroid Syndromes by Anna-Gaëlle Giguet-Valard 1,*,Astrid Monfort 2,3,Hugues Lucron 2,Helena Mosbah 4,5ORCID,Franck Boccara 6,7,Camille Vatier 4,5,Corinne Vigouroux 4,5,8,Pascale Richard 9,Karim Wahbi 10,11,Remi Bellance 1,Elisabeth Sarrazin 1 andJocelyn Inamo 2,3,*ORCID 1 Reference Center for Rare Neurological and Neuromuscular Diseases (CERCA), University Hospital of Martinique, 97200 Fort de France, Martinique, France 2 Department of Cardiology, University Hospital of Martinique, 97200 Fort de France, Martinique, France 3 Research Group n°7525—Cardiovascular Vulnerability in the Caribbean Environment, 97200 Fort de France, Martinique, France 4 Inserm UMR_S938, Saint-Antoine Research Center, Institute of Cardiometabolism and Nutrition, Sorbonne University, 75012 Paris, France 5 National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, 75012 Paris, France 6 GRC n°22, C2MV-Complications Cardiovasculaires et Métaboliques chez les Patients Vivant avec le Virus de L’immunodéficience Humaine, INSERM UMR_S 938, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Hôpital Saint-Antoine Service de Cardiologie, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75012 Paris, France 7 National Institute of Health and Medical Research, Department of Cardiology, AP-HP Saint-Antoine Hospital, 75012 Paris, France 8 Department of Molecular Biology and Genetics—AP-HP Saint-Antoine Hospital, 75571 Paris, France 9 Functional Unit of Molecular and Cellular, Cardiogenetics and Myogenetics, Department of Metabolic Biochemistry, AP-HP Pitié Salpêtrière-Charles Foix University Hospital, 75013 Paris, France 10 Cardiology Department, FILNEMUS, APHP, Cochin Hospital, Paris-Descartes, Sorbonne Paris Cité University, 75006 Paris, France 11 INSERM UMRS970, Paris Cardiovascular Research Centre (PARCC), 75015 Paris, France remove Hide full affiliation list * Authors to whom correspondence should be addressed. Cardiogenetics 2023, 13(4), 135-144; https://doi.org/10.3390/cardiogenetics13040013 Submission received: 16 June 2023 / Revised: 17 July 2023 / Accepted: 20 September 2023 / Published: 26 September 2023 (This article belongs to the Section Rare Disease-Genetic Syndromes) Downloadkeyboard_arrow_down Browse Figures Review Reports Versions Notes Abstract The likely pathogenic variant c.407A>T p.Asp136Val of the LMNA gene has been recently described in a young woman presenting with atypical progeroid syndrome, associated with severe aortic valve stenosis. We further describe the cardiovascular involvement associated with the syndrome in her family. We identified seven members with a general presentation suggestive of progeroid syndrome. All of them presented heart conduction abnormalities: degenerative cardiac diseases such as coronary artery disease (two subjects) and aortic stenosis (three subjects) occurred in the 3rd–5th decade, and a young patient developed a severe dilated cardiomyopathy, leading to death at 15 years of age. The likely pathogenic variant was found in all the patients who consented to carry out the genetic test. This diverse family cardiologic phenotype emphasizes the complex molecular background at play in lamin-involved cardiac diseases, and the need for early and thorough cardiac evaluations in patients with laminopathic progeroid syndromes. [ABSTRACT FROM AUTHOR]