Key result
A heterozygous deletion of exons 3-6 of the LMNA gene in a family was associated with a severe phenotype including early-onset arrhythmias, atrioventricular block, dilated cardiomyopathy, and a strong history of sudden cardiac death.
Case Report (n=3)
This case report highlights the severe clinical phenotype, including sudden cardiac death and dilative cardiomyopathy, associated with a specific heterozygous deletion of exons 3-6 in the LMNA gene.
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.
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Keil et al. (2022) conducted a case report in LMNA-associated familial dilated cardiomyopathy (n=3). Heterozygous deletion of exons 3-6 of the LMNA gene was evaluated. A heterozygous deletion of exons 3-6 of the LMNA gene in a family was associated with a severe phenotype including early-onset arrhythmias, atrioventricular block, dilated cardiomyopathy, and a strong history of sudden cardiac death.
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