Key result
A novel LMNA mutation (p. Ala502Val) was identified as the cause of familial atrioventricular block and dilated cardiomyopathy in a 44-year-old Tunisian man.
Why the study?
LMNA mutations account for 10% of DCM and represent a malignant, likely under-recognised cause of cardiomyopathy, particularly in familial DCM with early conduction disease.
Case Report (n=1)
No
A novel LMNA mutation (p. Ala502Val) is identified as a rare cause of familial atrioventricular block, highlighting the importance of considering LMNA mutations in familial dilated cardiomyopathy with early conduction disease.
LMNA testing merits consideration in familial DCM with early conduction disease; leaves open need for prevalence studies and screening criteria.
Mutation in LMNA accounts for 10% of Dilated Cardiomyopathy (DCM). It is characterised by progressive conduction system disease, arrhythmia and systolic impairment, lamin A/C heart disease is the most malignant gene common in DCMs especially in man. It is likely to be an under-recognised cause of this cardiomyopathy. In certain clinical scenarios, particularly familial DCM with early conduction disease, the probability of finding an LMNA mutation may be quite high.
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Mariem et al. (2021) conducted a case report in Familial atrioventricular block and dilated cardiomyopathy (n=1). LMNA mutation (p. Ala502Val) was evaluated on Clinical and genetic characterization. A novel LMNA mutation (p. Ala502Val) was identified as the cause of familial atrioventricular block and dilated cardiomyopathy in a 44-year-old Tunisian man.
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