LMOD2-related dilated cardiomyopathy presenting in late infancy.
Erica LayMahshid S AzamianSusan W DenfieldWilliam DreyerJoseph A SpinnerDebra KearneyLilei ZhangKim C WorleyWeimin BiSeema R LalaniPublished in: American journal of medical genetics. Part A (2022)
Leiomodin-2 (LMOD2) is an important regulator of the thin filament length, known to promote elongation of actin through polymerization at pointed ends. Mice with Lmod2 deficiency die around 3 weeks of age due to severe dilated cardiomyopathy (DCM), resulting from decreased heart contractility due to shorter thin filaments. To date, there have been three infants from two families reported with biallelic variants in LMOD2, presenting with perinatal onset DCM. Here, we describe a third family with a child harboring a previously described homozygous frameshift variant, c.1243_1244delCT (p.L415Vfs*108) with DCM, presenting later in infancy at 9 months of age. Family history was relevant for a sibling who died suddenly at 1 year of age after being diagnosed with cardiomegaly. LMOD2-related cardiomyopathy is a rare form of inherited cardiomyopathy resulting from thin filament length dysregulation and should be considered in genetic evaluation of newborns and infants with suspected autosomal recessive inheritance or sporadic early onset cardiomyopathy.
Keyphrases
- early onset
- late onset
- heart failure
- case report
- pregnant women
- intellectual disability
- copy number
- weight gain
- type diabetes
- pulmonary embolism
- mental health
- atrial fibrillation
- transcription factor
- mitochondrial dna
- gene expression
- insulin resistance
- autism spectrum disorder
- skeletal muscle
- amyotrophic lateral sclerosis
- duchenne muscular dystrophy