Are there websites that provide comprehensive gene libraries with all genes associated with childhood‑onset hypertension and cardiomyopathy?

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Last updated: November 6, 2026 • View editorial policy

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Comprehensive Gene Libraries for Childhood-Onset Hypertension and Cardiomyopathy

Yes, several specialized databases exist that provide comprehensive gene lists for cardiomyopathy, though resources specifically for childhood-onset hypertension genes are more limited. For cardiomyopathy genes with strong evidence, refer to the ClinGen-curated lists and use CardioGenBase or HeartBioPortal2.0 for broader cardiovascular gene exploration.

Recommended Online Resources

For Cardiomyopathy Genes

ClinGen (Clinical Genome Resource) provides the most rigorously curated gene-disease associations for cardiomyopathy, with expert-validated evidence levels 1. This is your gold standard reference.

CardioGenBase (available as a literature-based database) contains approximately 1,500 cardiovascular disease genes from ~24,000 research articles, covering major cardiovascular diseases including hypertensive heart disease and various cardiomyopathies 2. It provides:

  • Gene-disease associations with literature evidence
  • Ontology and pathways
  • SNP information
  • Protein-protein interaction networks
  • Gene expression data across tissues

HeartBioPortal2.0 (https://www.heartbioportal.com/) is the world's largest CVD genetics precision medicine platform, offering 3:

  • Harmonized CVD-relevant genetic variants
  • Data across ethnically diverse populations
  • Cardiovascular/renal/metabolic quantitative traits
  • Integration of data from major consortiums (CARDIoGRAMplusC4D, TOPMed, UK Biobank, etc.)

Cardio Database provides a phenotype-driven approach to identify genetic mechanisms underlying cardiovascular diseases including hypertension 4.

Evidence-Based Gene Lists for Cardiomyopathy

Hypertrophic Cardiomyopathy (HCM)

Definitive evidence genes (8 genes) 1, 5:

  • MYBPC3, MYH7, TNNT2, TNNI3, TPM1, ACTC1, MYL2, MYL3

Moderate evidence genes (3 genes) 1:

  • CSRP3, TNNC1, JPH2

Definitive syndromic genes (12 genes) where isolated left ventricular hypertrophy can occur 1:

  • PLN, CACNA1C, DES, FHL1, FLNC, GLA, LAMP2, PRKAG2, PTPN11, RAF1, RIT1, TTR

Dilated Cardiomyopathy (DCM)

Core genes 1, 5:

  • TTN, LMNA, MYH7, TNNT2, BAG3, RBM20, TNNC1, TNNI3, TPM1, SCN5A, PLN
  • Note: All HCM and ARVC genes should be included in DCM panels due to phenotypic overlap

Other Cardiomyopathy Types

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) 1, 5:

  • DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN, RYR2, SCN5A, TMEM43, TTN

Restrictive Cardiomyopathy 1, 5:

  • TTR; consider full HCM or DCM panel

Left Ventricular Non-Compaction (LVNC) 1, 5:

  • Use the gene panel for the associated cardiomyopathy phenotype, including TAZ for Barth syndrome

Special Considerations for Pediatric Cases

Critical Differences in Children

Infants and children with cardiomyopathy require more specialized evaluation because of higher rates of syndromic conditions and inborn errors of metabolism 5.

In patients diagnosed before 6 months of age, 55% carry variants in genes associated with syndromic cardiomyopathy, even when initially presenting with isolated cardiac phenotypes 6.

Additional genes to consider in pediatric HCM 5:

  • GAA (Pompe disease)
  • Mitochondrial disease genes
  • RASopathy genes (Noonan syndrome, etc.)

Genetic testing yield in pediatric populations 5, 6:

  • Higher in patients diagnosed before 1 year of age (72.7% vs. 56.7% for later diagnosis)
  • HCM: 30-60% overall diagnostic yield
  • DCM: 10-40% overall diagnostic yield

Limitations for Childhood-Onset Hypertension

Important caveat: While the databases above include hypertensive heart disease genes, specific comprehensive gene lists for primary childhood-onset hypertension are not well-established in the provided guidelines 7. The evidence focuses predominantly on cardiomyopathy genes. For monogenic hypertension in children, you would need to search for genes associated with:

  • Mineralocorticoid excess syndromes
  • Glucocorticoid-remediable aldosteronism
  • Liddle syndrome
  • Gordon syndrome
  • Other rare monogenic causes

These are not comprehensively covered in the cardiomyopathy-focused resources above.

Practical Approach

  1. Start with ClinGen for the most rigorously validated gene-disease associations
  2. Use CardioGenBase 2 for literature-based gene discovery and comprehensive cardiovascular gene information
  3. Access HeartBioPortal2.0 3 for population-level genetic data and ethnic diversity considerations
  4. For pediatric cases, ensure testing includes syndromic and metabolic genes beyond core sarcomeric genes 5, 6
  5. Consult a clinical geneticist for infants and young children with cardiomyopathy, as recommended by ACMG guidelines 5

References

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This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.