Whole Exome Sequencing Dataset of Patients with Congenital Mitral and Tricuspid Valve Malformations

Description This repository contains whole exome sequencing (WES) data from patients diagnosed with congenital malformations of the mitral and tricuspid valves, including , mitral atresia, tricuspid atresia, atrioventricular canal defects, mitral hypoplasia, mitral insufficiency, and double mitral lesion. All patients were evaluated at the Instituto Mexicano del Seguro Social and provided written informed consent for genetic analysis and research use of their data. Sequencing was performed using Illumina whole exome sequencing platforms. The repository includes processed variant files in VCF format, along with curated clinical phenotypic information and associated cardiovascular anomalies. Clinical diagnoses were established using standard cardiologic diagnostic methods, including echocardiography, angiotomography, cardiac magnetic resonance angiography, cardiac catheterization, and surgical findings when applicable. Because these data are derived from clinical patients and are institutional property of the Instituto Mexicano del Seguro Social (IMSS), access is restricted and must be requested directly from the corresponding authors. Data sharing will be granted upon reasonable request and subject to institutional approval. This dataset supports research on the genetic burden, variant discovery, genotype–phenotype correlations, and precision medicine approaches in congenital valvular heart disease. Access Conditions All patients signed informed consent for participation and genetic analysis. Data access is restricted and must be approved by the corresponding authors. The information is the property of the Instituto Mexicano del Seguro Social (IMSS). No personally identifiable patient information is included in this repository. Data Included Variant Call Format files (VCF files) Clinical phenotype database Cardiac diagnosis and associated anomalies Diagnostic imaging and procedural confirmation Clinical Diagnoses Included Ebstein Malformation Mitral Atresia Tricuspid Atresia Atrioventricular Canal Defect Double Mitral Lesion Mitral Hypoplasia Mitral Insufficiency License Restricted access – available upon request and institutional approval. Notes This repository contains secondary research data intended for scientific collaboration and reproducibility. Due to ethical and institutional restrictions, public download is not available without prior authorization.