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Exteriorisation of the heart in two siblings
Mervat A Assaqqat1, Majid I Al-Fayyadh, Ziad R Bulbul
1Department of Cardiovascular Diseases, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Cardiology in the Young
|April 15, 2003
Insights
This study details two siblings with isolated ectopic hearts, a rare congenital condition. This is the first documented instance of familial ectopic hearts, offering new insights into its genetic basis.
Area of Science:
- Cardiology
- Genetics
- Developmental Biology
Background:
- Ectopic heart, or ectopia cordis, is a rare congenital anomaly where the heart is abnormally located outside the chest cavity.
- While isolated cases are documented, familial occurrences are exceedingly rare, prompting investigation into potential genetic factors.
Observation:
- Two siblings presented with isolated ectopic hearts without any other congenital anomalies.
- Detailed clinical and familial history was obtained for both affected individuals.
Findings:
- This case represents the first reported familial occurrence of isolated ectopic hearts.
- The absence of other congenital defects in the siblings suggests a specific genetic etiology for the ectopic heart condition.
Implications:
- This finding may indicate a genetic predisposition or heritable component to isolated ectopia cordis.
- Further research into the genetic underpinnings of this familial case could elucidate the developmental pathways involved in heart positioning.
Abstract:
We report two siblings with isolated ectopic hearts. Neither child had associated congenital diseases. To the best of our knowledge, this is the first reported familial occurrence of ectopic hearts.