Vol 79, No 12 (2021)
Short communication
Published online: 2021-10-30

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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
Pubmed: 34729735
Kardiol Pol 2021;79(12):1368-1371.

Abstract

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References

  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.