Novel combination of (c.5707G>A; p. Glu1903Lys) and (c.610G>A; p.Gly204Arg) genetic variant expressing restrictive cardiomyopathy phenotype in an adolescent girl.

Pediatric restrictive cardiomyopathy (RCM) is the rarest in its group and accounts for only 2.5-5% of all the diagnosed cardiomyopathies in children. It is a relentless disease with poor prognosis, and heart transplantation is the only long-term treatment option. The aetiology of pediatric RCM varies and includes conditions such as endomyocardial fibrosis, storage disorder (Fabry's disease, MPS), drugs, radiation, post-cardiac transplantation and genetic. Genetic causes encompasses mutations in sarcomeric (troponin I and T, actin, myosin and titin) and nonsarcomeric protein-coding genes (Desmin, RSK2, lamin A/C and bcl-2-associated athanogene 3 ()). Inheritance of RCM could be autosomal dominant, autosomal recessive and X-linked. Here, we report a case of RCM in an adolescent girl, who was symptomatic with palpitations and breathlessness on exertion. The patient showed presence of rare variants in (c.5707G>A; p.Glu1903Lys) and genes (c.610G>A; p.Gly204Arg). These two variants were detected individually in asymptomatic father and mother, respectively. gene codes for gamma filamin. These filamin proteins play important role in maintaining the structural integrity of the sarcomere. is the main component of the chaperone-assisted selective autophagy (CASA) pathway. Mutant leads to the formation of protein aggregates which are cleared by an active protein quality control system including CASA pathway. For further verification, protein-protein interaction was performed using online software and tools. The results showed evident interaction between and with significant binding score (-826.6) between them.