KLHL24 Gene Mutations in Hypertrophic Cardiomyopathy: A Case Report

5.7 GB of data from a case report describing two siblings with hypertrophic cardiomyopathy caused by novel compound heterozygous mutations in the KLHL24 gene. The dataset includes clinical evaluations, genetic testing results, and associated files in formats like PDF, XLSX, and PNG. It was authored by Yingnan Liao and last updated on April 23, 2026.

Use Cases

• Study genotype-phenotype correlations in hypertrophic cardiomyopathy based on the described KLHL24 mutations.
• Analyze clinical progression of cardiomyopathy based on serial evaluations showing left ventricular hypertrophy and diastolic dysfunction.
• Investigate subclinical myocardial injury markers based on elevated B-type natriuretic peptide and high-sensitivity troponin T levels.
• Examine familial inheritance patterns of recessive genetic disorders based on the non-consanguineous family case.

Strengths

• Dataset size is 5.7 GB, indicating a substantial collection of supporting files.
• Includes data from serial clinical evaluations of two patients, providing a longitudinal perspective.
• Released under the permissive CC-BY-4.0 license, facilitating reuse.

Limitations

• Row count and specific column definitions are unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data may reflect the specific clinical and genetic bias inherent to a single case report from figshare.

Provenance

Source

figshare

Collection Method

Clinical case report and genetic testing.

Freshness

Last updated 2026-04-23 05:20:16; freshness should be verified.