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Volume 13
Issue 2
10.3390/genes13020169
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Case Report

LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death

by
Laura Keil
1,*,
Filip Berisha
1,2,
Dorit Knappe
1,
Christian Kubisch
3,
Moneef Shoukier
4,
Paulus Kirchhof
1,2,
Larissa Fabritz
1,2,
Yorck Hellenbroich
5,
Rixa Woitschach
3 and
Christina Magnussen
1,2
1
Department of Cardiology, University Heart and Vascular Center Hamburg, 20251 Hamburg, Germany
2
German Center for Cardiovascular Research (DZHK), Partner Site Hamburg/Kiel/Luebeck, 20251 Hamburg, Germany
3
Institute of Human Genetics, University Hospital Hamburg Eppendorf, 20246 Hamburg, Germany
4
Prenatal Medicine Munich, Department of Molecular Genetics, 80639 Munich, Germany
5
Institute of Human Genetics, University of Luebeck, 23538 Luebeck, Germany
*
Author to whom correspondence should be addressed.
Genes 2022, 13(2), 169; https://doi.org/10.3390/genes13020169
Submission received: 20 December 2021 / Revised: 10 January 2022 / Accepted: 15 January 2022 / Published: 19 January 2022
(This article belongs to the Special Issue Cardiac Genetics and Epigenetics)
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Abstract

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.
Keywords: LMNA; dilated cardiomyopathy; heart failure LMNA; dilated cardiomyopathy; heart failure

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MDPI and ACS Style

Keil, L.; Berisha, F.; Knappe, D.; Kubisch, C.; Shoukier, M.; Kirchhof, P.; Fabritz, L.; Hellenbroich, Y.; Woitschach, R.; Magnussen, C. LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death. Genes 2022, 13, 169. https://doi.org/10.3390/genes13020169

AMA Style

Keil L, Berisha F, Knappe D, Kubisch C, Shoukier M, Kirchhof P, Fabritz L, Hellenbroich Y, Woitschach R, Magnussen C. LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death. Genes. 2022; 13(2):169. https://doi.org/10.3390/genes13020169

Chicago/Turabian Style

Keil, Laura, Filip Berisha, Dorit Knappe, Christian Kubisch, Moneef Shoukier, Paulus Kirchhof, Larissa Fabritz, Yorck Hellenbroich, Rixa Woitschach, and Christina Magnussen. 2022. "LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death" Genes 13, no. 2: 169. https://doi.org/10.3390/genes13020169

APA Style

Keil, L., Berisha, F., Knappe, D., Kubisch, C., Shoukier, M., Kirchhof, P., Fabritz, L., Hellenbroich, Y., Woitschach, R., & Magnussen, C. (2022). LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death. Genes, 13(2), 169. https://doi.org/10.3390/genes13020169

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