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Published on: December 23, 2022
Relation between inheritance of cyanotic congenital heart disease and persistent foramen ovale
Peter Wilmshurst1, Jane Panikkar, Matthew Pearson
1Royal Shrewsbury Hospital, Shrewsbury, UK. peter.wilmshurst@sath.nhs.uk
Insights
Familial atrial shunts, often linked to migraines, may also be inherited with cyanotic congenital heart disease (CCHD). This suggests a shared genetic cause for these conditions.
Area of Science:
- Cardiology
- Genetics
- Neurology
Background:
- Cyanotic congenital heart disease (CCHD) typically occurs sporadically, but familial cases without clear inheritance patterns exist.
- Previous research suggested a link between dominant inheritance of atrial shunts and migraine with aura in some families.
Observation:
- A family with three CCHD members was studied for atrial shunts and migraine.
- Contrast echocardiography identified atrial right-to-left shunts in relatives.
- Neurologists diagnosed migraine symptoms in affected family members.
Findings:
- The study observed that atrial right-to-left shunts linked three members with CCHD within the investigated family.
- Evidence suggests dominant inheritance of atrial shunts is associated with CCHD in certain families.
- A potential gene may primarily cause atrial shunts, but occasionally lead to more complex heart conditions.
Implications:
- This research indicates a potential genetic link between atrial shunts, migraine, and CCHD.
- Understanding this inheritance pattern could improve diagnosis and genetic counseling for affected families.
- Further investigation into the responsible gene(s) is warranted.
Abstract:
Cyanotic congenital heart disease (CCHD) usually occurs sporadically, but occasionally it is familial without evidence of Mendelian inheritance. The investigators previously reported an association between dominant inheritance of clinically significant atrial shunts (large persistent foramina ovale and small atrial septal defects) and migraine with aura in some families. In 1 family, 4 patients with CCHD were linked by relatives with atrial shunts. The presence of atrial shunts and migraine symptoms was investigated in another family in which 3 members had CCHD. Contrast echocardiography was used to detect whether atrial right-to-left shunts were present in family members. A consultant neurologist, who was blinded to cardiac findings, diagnosed and categorized migraine symptoms. In this family, relatives with atrial right-to-left shunts linked 3 members who had CCHD. There appears to be dominant inheritance of atrial shunts, which is linked to inheritance of CCHD in some families. In conclusion, it is possible that the gene responsible most often causes an atrial shunt but sometimes causes more complex heart disease.
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