Key result
Suspected LDB3 variant linked to concurrent HCM and myofibrillar myopathy type 4 in one patient.
Case Report (n=1)
This is the first reported case of an LDB3 gene polymorphism likely causing both myofibrillar myopathy 4 and hypertrophic cardiomyopathy in the same patient.
May support LDB3 inclusion in panels for overlapping HCM-myopathy phenotypes; leaves open validation in larger cohorts.
Polymorphisms in LDB3 gene can cause various forms of cardiomyopathy and myofibrillar myopathy 4 (MM4). Patient described in this study presented with a hypertrophic cardiomyopathy (HCM) and distal myopathy suggestive of myofibrillar myopathy 4. Genetic analysis using the TruSight Cardio Sequencing Kit (Illumina) revealed suspected LDB3 variant (c.1435G>A, p.(Gly479Arg)). This is the first case in which polymorphism in LDB3 gene is likely responsible for MM4 and HCM in the same patient.
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Svaguša et al. (2024) conducted a case report in Hypertrophic cardiomyopathy and myofibrillar myopathy type 4 (n=1). LDB3 variant (c.1435G>A, p.(Gly479Arg)) was evaluated on Diagnosis of hypertrophic cardiomyopathy and myofibrillar myopathy type 4. A suspected LDB3 variant (c.1435G>A, p.(Gly479Arg)) was identified as the likely cause of both hypertrophic cardiomyopathy and myofibrillar myopathy type 4 in a single patient.
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