biostudies-literatureAcuna-Ochoa JGNHLBI NIH HHSNational Institutes of Health9517735https://www.ebi.ac.uk/biostudies/studies/S-EPMC11699985biostudies-literatureUnknown2024Structural or electrophysiologic cardiac anomalies may compromise cardiac function, leading to sudden cardiac death (SCD). Genetic screening of families with severe cardiomyopathies underlines the role of genetic variations in cardiac-specific genes. The present study details the clinical and genetic characterization of a malignant dilated cardiomyopathy (DCM) case in a 1-year-old Mexican child who presented a severe left ventricular dilation and dysfunction that led to SCD. A total of 132 genes (48 structure- and 84 electrical-related genes) were examined by next generation sequencing to identify potential causative mutations in comparison to control population. <i>In silico</i> analysis identified only two deleterious heterozygous mutations within an evolutionarily well-conserved region Case reports in genetics<i>A De Novo</i> Mutation in <i>ACTC1</i> and a <i>TTN</i> Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case.PMC11699985R56 [HL47678]R01 HL152201R01 [HL152201]R01 HL047678Barajas-Martinez HBalderrabano-Saucedo NAIbarra-Garcia VLHu DCepeda-Nieto ACAlvarado-Cervantes MYAcuna-Ochoa JGPfeiffer RBarr DGage MJfalse<i>A De Novo</i> Mutation in <i>ACTC1</i> and a <i>TTN</i> Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case.Structural or electrophysiologic cardiac anomalies may compromise cardiac function, leading to sudden cardiac death (SCD). Genetic screening of families with severe cardiomyopathies underlines the role of genetic variations in cardiac-specific genes. The present study details the clinical and genetic characterization of a malignant dilated cardiomyopathy (DCM) case in a 1-year-old Mexican child who presented a severe left ventricular dilation and dysfunction that led to SCD. A total of 132 genes (48 structure- and 84 electrical-related genes) were examined by next generation sequencing to identify potential causative mutations in comparison to control population. <i>In silico</i> analysis identified only two deleterious heterozygous mutations within an evolutionarily well-conserved region 2024-01-01T00:00:00Z20242026-06-01T23:13:21.213Z2026-05-23T03:08:09.205ZS-EPMC116999853975997710.1155/crig/9517735