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LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death
We report a family with heterozygous deletion of exons 3–6 of the LMNA gene. The main presentation of affected family members was characterized by ventricular and supraventricular arrhythmias, atrioventricular (AV) block and sudden cardiac death (SCD) but also by severe dilative cardiomyopathy (DCM)...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871815/ https://www.ncbi.nlm.nih.gov/pubmed/35205214 http://dx.doi.org/10.3390/genes13020169 |
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author | Keil, Laura Berisha, Filip Knappe, Dorit Kubisch, Christian Shoukier, Moneef Kirchhof, Paulus Fabritz, Larissa Hellenbroich, Yorck Woitschach, Rixa Magnussen, Christina |
author_facet | Keil, Laura Berisha, Filip Knappe, Dorit Kubisch, Christian Shoukier, Moneef Kirchhof, Paulus Fabritz, Larissa Hellenbroich, Yorck Woitschach, Rixa Magnussen, Christina |
author_sort | Keil, Laura |
collection | PubMed |
description | We report a family with heterozygous deletion of exons 3–6 of the LMNA gene. The main presentation of affected family members was characterized by ventricular and supraventricular arrhythmias, atrioventricular (AV) block and sudden cardiac death (SCD) but also by severe dilative cardiomyopathy (DCM). We report on two siblings, a 36-year-old female and her 40-year-old brother, who suffer from heart failure with mildly reduced ejection fraction, AV conduction delays and premature ventricular complexes. Their 65-year-old mother underwent heart transplantation at the age of 55 due to advanced heart failure. Originally, the LMNA mutation was detected in one of the uncles. This index patient and three of his brothers died of SCD as well as their father and aunt. The two siblings were treated with implanted defibrillators in our specialized tertiary heart failure center. This case report places this specific genetic variant in the context of LMNA-associated familial DCM. |
format | Online Article Text |
id | pubmed-8871815 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-88718152022-02-25 LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death Keil, Laura Berisha, Filip Knappe, Dorit Kubisch, Christian Shoukier, Moneef Kirchhof, Paulus Fabritz, Larissa Hellenbroich, Yorck Woitschach, Rixa Magnussen, Christina Genes (Basel) Case Report We report a family with heterozygous deletion of exons 3–6 of the LMNA gene. The main presentation of affected family members was characterized by ventricular and supraventricular arrhythmias, atrioventricular (AV) block and sudden cardiac death (SCD) but also by severe dilative cardiomyopathy (DCM). We report on two siblings, a 36-year-old female and her 40-year-old brother, who suffer from heart failure with mildly reduced ejection fraction, AV conduction delays and premature ventricular complexes. Their 65-year-old mother underwent heart transplantation at the age of 55 due to advanced heart failure. Originally, the LMNA mutation was detected in one of the uncles. This index patient and three of his brothers died of SCD as well as their father and aunt. The two siblings were treated with implanted defibrillators in our specialized tertiary heart failure center. This case report places this specific genetic variant in the context of LMNA-associated familial DCM. MDPI 2022-01-19 /pmc/articles/PMC8871815/ /pubmed/35205214 http://dx.doi.org/10.3390/genes13020169 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Keil, Laura Berisha, Filip Knappe, Dorit Kubisch, Christian Shoukier, Moneef Kirchhof, Paulus Fabritz, Larissa Hellenbroich, Yorck Woitschach, Rixa Magnussen, Christina LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death |
title | LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death |
title_full | LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death |
title_fullStr | LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death |
title_full_unstemmed | LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death |
title_short | LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death |
title_sort | lmna mutation in a family with a strong history of sudden cardiac death |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871815/ https://www.ncbi.nlm.nih.gov/pubmed/35205214 http://dx.doi.org/10.3390/genes13020169 |
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