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

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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.

In: GENES-BASEL, Vol. 13, No. 2, 169, 19.01.2022.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

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-BASEL, vol. 13, no. 2, 169. https://doi.org/10.3390/genes13020169

APA

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-BASEL, 13(2), [169]. https://doi.org/10.3390/genes13020169

Vancouver

Keil L, Berisha F, Knappe D, Kubisch C, Shoukier M, Kirchhof P et al. LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death. GENES-BASEL. 2022 Jan 19;13(2). 169. https://doi.org/10.3390/genes13020169

Bibtex

@article{75d49f73c9294e819c32ab8f04f171d9,
title = "LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death",
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 = "Adult, Aged, Cardiomyopathy, Dilated, Death, Sudden, Cardiac/etiology, Female, Heart Failure, Humans, Lamin Type A/genetics, Male, Mutation",
author = "Laura Keil and Filip Berisha and Dorit Knappe and Christian Kubisch and Moneef Shoukier and Paulus Kirchhof and Larissa Fabritz and Yorck Hellenbroich and Rixa Woitschach and Christina Magnussen",
year = "2022",
month = jan,
day = "19",
doi = "10.3390/genes13020169",
language = "English",
volume = "13",
journal = "GENES-BASEL",
issn = "2073-4425",
publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",
number = "2",

}

RIS

TY - JOUR

T1 - LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death

AU - Keil, Laura

AU - Berisha, Filip

AU - Knappe, Dorit

AU - Kubisch, Christian

AU - Shoukier, Moneef

AU - Kirchhof, Paulus

AU - Fabritz, Larissa

AU - Hellenbroich, Yorck

AU - Woitschach, Rixa

AU - Magnussen, Christina

PY - 2022/1/19

Y1 - 2022/1/19

N2 - 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.

AB - 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.

KW - Adult

KW - Aged

KW - Cardiomyopathy, Dilated

KW - Death, Sudden, Cardiac/etiology

KW - Female

KW - Heart Failure

KW - Humans

KW - Lamin Type A/genetics

KW - Male

KW - Mutation

U2 - 10.3390/genes13020169

DO - 10.3390/genes13020169

M3 - SCORING: Journal article

C2 - 35205214

VL - 13

JO - GENES-BASEL

JF - GENES-BASEL

SN - 2073-4425

IS - 2

M1 - 169

ER -