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The novel pathogenic variant in the LMNA gene in a four-generation family with sudden deaths and cardiomyopathy: utility of molecular autopsy

Agnieszka Zienciuk-Krajka1, Magdalena Chmara234, Monika Lica-Gorzynska5, Karolina Dorniak6, Joanna Kwiatkowska7, Jacek Kowalski8, Damian Kaufmann1, Ludmiła Daniłowicz-Szymanowicz1, Grzegorz Raczak1
DOI: 10.33963/KP.a2021.0148
·
Pubmed: 34729735
Affiliations
  1. Department of Cardiology and Electrotherapy, Medical University of Gdansk, Gdańsk, Poland
  2. Department of Biology and Genetics, Medical University of Gdansk, Gdańsk, Poland
  3. Laboratory of Clinical Genetics, University Clinical Centre, Gdansk, Poland
  4. Translational Medicine Center, Medical University of Gdansk, Gdańsk, Poland
  5. Cardiology Unit, J.K. Łukowicz Specialist Hospital, Chojnice, Poland
  6. Department of Noninvasive Cardiac Diagnostics, Medical University of Gdansk, Gdańsk, Poland
  7. Department of Pediatric Cardiology and Congenital Heart Defect, Medical University of Gdansk, Gdańsk, Poland
  8. Department of Pathomorphology, Medical University of Gdansk, Gdańsk, Poland

open access

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Short communication
Published online: 2021-10-30

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About this article
Title

The novel pathogenic variant in the LMNA gene in a four-generation family with sudden deaths and cardiomyopathy: utility of molecular autopsy

Journal

Kardiologia Polska (Polish Heart Journal)

Issue

Online first

Article type

Short communication

Published online

2021-10-30

DOI

10.33963/KP.a2021.0148

Pubmed

34729735

Authors

Agnieszka Zienciuk-Krajka
Magdalena Chmara
Monika Lica-Gorzynska
Karolina Dorniak
Joanna Kwiatkowska
Jacek Kowalski
Damian Kaufmann
Ludmiła Daniłowicz-Szymanowicz
Grzegorz Raczak

References (13)
  1. Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999; 341(23): 1715–1724.
  2. Pinto YM, Elliott PM, Arbustini E, et al. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases. Eur Heart J. 2016; 37(23): 1850–1858.
  3. van Rijsingen IAW, Arbustini E, Elliott PM, et al. Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol. 2012; 59(5): 493–500.
  4. Nishiuchi S, Makiyama T, Aiba T, et al. Gene-based risk stratification for cardiac disorders in mutation carriers. Circ Cardiovasc Genet. 2017; 10(6): e001603.
  5. Wahbi K, Ben Yaou R, Gandjbakhch E, et al. Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies. Circulation. 2019; 140(4): 293–302.
  6. Priori S, Blomström-Lundqvist C, Mazzanti A, et al. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J. 2015; 36(41): 2793–2867.
  7. Ackerman MJ. Genetic purgatory and the cardiac channelopathies: exposing the variants of uncertain/unknown significance issue. Heart Rhythm. 2015; 12(11): 2325–2331.
  8. Carmosino M, Torretta S, Procino G, et al. Role of nuclear Lamin A/C in cardiomyocyte functions. Biol Cell. 2014; 106(10): 346–358.
  9. Wolf CM, Wang L, Alcalai R, et al. Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease. J Mol Cell Cardiol. 2008; 44(2): 293–303.
  10. Richards S, Aziz N, Bale S, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405–424.
  11. Młynarska A, Młynarski R, Uchmanowicz I, et al. Crosscultural adaptation and reliability testing of the Implantable Cardioverter-Defibrillator Concerns questionnaire to optimize the care of Polish patients with implantable cardioverter-defibrillators. Kardiol Pol. 2020; 78(9): 906–912.
  12. Sterliński M, Oręziak A, Przybylski A, et al. Experts of the Heart Rhythm Section of the Polish Cardiac Society: opinion on the use of wearable cardioverter-defibrillators in Poland. Kardiol Pol. 2019; 77(2): 238–243.
  13. Zienciuk-Krajka A, Daniłowicz-Szymanowicz L, Dorniak K, et al. Left ventricular noncompaction cardiomyopathy: diagnostic and therapeutic dilemmas. Kardiol Pol. 2020; 78(10): 1053–1054.

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