To report a novel GDF1 frameshift mutation associated with hypoplastic coronary artery disease (HCAD) and myocardial bridging, highlighting its potential implications.
Key Findings:
The patient had a right coronary artery diameter of <1.5 mm, indicating hypoplasia, which is significant for diagnosis.
A novel GDF1 frameshift mutation (c.84_91del; p.Val31ArgfsTer15) was identified, marking a new discovery in the field.
The variant was classified as likely pathogenic based on ACMG guidelines, underscoring its clinical relevance.
Interpretation:
This case suggests a potential link between GDF1 loss-of-function mutations and congenital coronary anomalies, expanding the understanding of HCAD etiology and highlighting the need for further research.
Limitations:
The study is based on a single case report, limiting generalizability.
No genetic testing was performed on family members to assess inheritance.
Lack of long-term follow-up data on the patient's condition.
Conclusion:
This report highlights the association between a GDF1 mutation and HCAD, providing new insights into the genetic basis of congenital coronary anomalies and emphasizing the need for further investigation.
