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Hematologic disorders and congenital cardiovascular malformations: converging lines of research
Insights
Congenital cardiovascular malformations (CCVM) may be linked to heritable blood disorders (HBD). This study explores the biological plausibility of this association, suggesting common origins and mechanisms.
Area of Science:
- Cardiovascular Science
- Hematology
- Developmental Biology
Background:
- Heritable coagulopathies were observed in parents of congenital cardiovascular malformation (CCVM) cases, suggesting a potential link.
- Existing literature suggests biological plausibility for an association between CCVM and blood disorders.
Purpose of the Study:
- To investigate the potential etiologic association between heritable blood disorders (HBD) and congenital cardiovascular malformations (CCVM).
- To review embryologic and clinical data supporting the biological plausibility of this association.
Main Methods:
- Literature search for embryologic and clinical data.
- Analysis of population-based study findings on CCVM and coagulopathies.
Main Results:
- The heart and blood share common angiogenic origins.
- Endothelial cells in the primitive heart synthesize coagulation factors, potentially affecting cardiac morphogenesis.
- Bleeding diatheses and hemostatic disorders are reported in CCVM patients and their families.
Conclusions:
- A hypothesis of an etiologic relationship between HBD and CCVM warrants further investigation.
- Future research should explore embryonic blood in genetic blood disorders and hematologic alterations in CCVM patients and families.
Abstract:
In a population-based study on congenital cardiovascular malformations (CCVM), the occurrence of heritable coagulopathies among case parents and not among controls raised the possibility of an etiologic association of CCVM with blood disorders. The literature was searched for evidence that such an association could be biologically plausible. Reported embryologic and clinical data provided confirmatory findings. The heart and blood arise from common angiogenic cells; endothelial cells, the first components of the primitive heart, synthesize coagulation factors; resultant osmotic alterations of embryonic fluids could alter early cardiac morphogenesis. Bleeding diatheses are common in cyanotic and acyanotic patients with CCVM and hemostatic disorders have been reported in some families. CCVM and blood disorders are joint components of several malformation syndromes. The hypothesis of an etiologic relationship between HBD and CCVM needs to be tested in multiple research areas. Future experimental studies should be based on current theories of cardiac morphogenesis to include investigations of embryonic blood in genetic blood disorders. Clinical studies should clarify hematologic alterations in CCVM probands and their families.