Genetic testing identified TNNI3 gene mutations, including one novel and two known missense mutations, in three out of four pediatric patients with highly suspected restrictive cardiomyopathy.
Case Report (n=4)
No
Does genetic testing identify etiologically linked mutations in pediatric patients with suspected restrictive cardiomyopathy?
Genetic testing identified TNNI3 mutations in 3 out of 4 pediatric patients with suspected restrictive cardiomyopathy, supporting its utility in clinical diagnosis.
BACKGROUND: Restrictive cardiomyopathy (RCM) presents a high risk for sudden cardiac death in pediatric patients. Constrictive pericarditis (CP) exhibits a similar clinical presentation to RCM and requires differential diagnosis. While mutations of genes that encode sarcomeric and cytoskeletal proteins may lead to RCM, infection, rather than gene mutation, is the main cause of CP. Genetic testing may be helpful in the clinical diagnosis of RCM. METHODS: In this case series study, we screened for TNNI3, TNNT2, and DES gene mutations that are known to be etiologically linked to RCM in four pediatric patients with suspected RCM. RESULTS: We identified one novel heterozygous mutation, c.517C>T (substitution, position 517 C → T) (amino acid conversion, p.Leu173Phe), and two already known heterozygous mutations, c.508C>T (substitution, position 508, C → T) (amino acid conversion, p.Arg170Trp) and c.575G>A (substitution, position 575, G → A) (amino acid conversion, p.Arg192His), in the TNNI3 gene in three of the four patients. CONCLUSION: Our findings support the notion that genetic testing may be helpful in the clinical diagnosis of RCM.
Zheng et al. (Wed,) conducted a case report in Restrictive cardiomyopathy (n=4). Genetic testing for TNNI3, TNNT2, and DES mutations was evaluated on Presence of TNNI3, TNNT2, or DES gene mutations. Genetic testing identified TNNI3 gene mutations, including one novel and two known missense mutations, in three out of four pediatric patients with highly suspected restrictive cardiomyopathy.