{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Acuna-Ochoa JG"],"funding":["NHLBI NIH HHS","National Institutes of Health"],"pagination":["9517735"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11699985"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["2024"],"pubmed_abstract":["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 "],"journal":["Case reports in genetics"],"pubmed_title":["<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."],"pmcid":["PMC11699985"],"funding_grant_id":["R56 [HL47678]","R01 HL152201","R01 [HL152201]","R01 HL047678"],"pubmed_authors":["Barajas-Martinez H","Balderrabano-Saucedo NA","Ibarra-Garcia VL","Hu D","Cepeda-Nieto AC","Alvarado-Cervantes MY","Acuna-Ochoa JG","Pfeiffer R","Barr D","Gage MJ"],"additional_accession":[]},"is_claimable":false,"name":"<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.","description":"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 ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024","modification":"2026-06-01T23:13:21.213Z","creation":"2026-05-23T03:08:09.205Z"},"accession":"S-EPMC11699985","cross_references":{"pubmed":["39759977"],"doi":["10.1155/crig/9517735"]}}