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Charron P, Arbustini E, Bonne G. What Should the Cardiologist know about Lamin Disease?. Arrhythm Electrophysiol Rev. 2012;1(1):22-28doi: 10.15420/aer.2012.1.22.
Charron, P., Arbustini, E., & Bonne, G. (2012). What Should the Cardiologist know about Lamin Disease?. Arrhythmia & electrophysiology review, 1(1), 22-28. https://doi.org/10.15420/aer.2012.1.22
Charron, Philippe, et al. "What Should the Cardiologist know about Lamin Disease?." Arrhythmia & electrophysiology review vol. 1,1 (2012): 22-28. doi: https://doi.org/10.15420/aer.2012.1.22
Charron P, Arbustini E, Bonne G. What Should the Cardiologist know about Lamin Disease?. Arrhythm Electrophysiol Rev. 2012 Sep;1(1):22-28. doi: 10.15420/aer.2012.1.22. PMID: 26835025; PMCID: PMC4711561.
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Arrhythm Electrophysiol Rev. 2012 Sep;1(1):22-28. doi: 10.15420/aer.2012.1.22.

What Should the Cardiologist know about Lamin Disease?.

Arrhythmia & electrophysiology review

Philippe Charron, Eloisa Arbustini, Gisèle Bonne

Affiliations

  1. AP-HP, Hôpital Pitié-Salpêtrière, Centre de référence maladies cardiaques héréditaires, Paris, France; 2. UPMC Université Paris VI, INSERM UMR-S956.
  2. Paris, France.
  3. Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  4. INSERM U974; UPMC Université Paris 6; CNRS UMR 7215; Institut de Myologie, Paris, France.
  5. AP-HP, Groupe Hospitalier Pitié-Salpêtrière, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Paris, France.

PMID: 26835025 PMCID: PMC4711561 DOI: 10.15420/aer.2012.1.22

Abstract

Lamins are intermediate filament proteins able to polymerise and form an organised meshwork underlying the inner nuclear membrane in most differentiated somatic cells. Mutations in the LMNA gene, which encodes the two major lamin A and C isoforms, cause a diverse range of diseases, called laminopathies, including dilated cardiomyopathy, associated with a poor prognosis and high rate of sudden death due to conduction defect and early ventricular arrhythmia. Identification of mutations in LMNA gene in clinical practice is rapidly increasing, as well as comprehensive cardiac and genetic family screening. As a consequence, cardiologists are more and more frequently faced to difficult questions regarding optimal management of patients and relatives, especially timing for prophylactic cardioverter defibrillator. This review focuses on recent data useful for the clinician, as well as therapeutic perspectives both in human and animal models.

Keywords: LMNA; Lamin; arrhythmia; defibrillator; dilated cardiomyopathy; gene; sudden death

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