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Am J Cardiol. 2009 Jul 1;104(1):148-9. doi: 10.1016/j.amjcard.2009.03.004. Epub 2009 May 4.

Relation between inheritance of cyanotic congenital heart disease and persistent foramen ovale.

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Royal Shrewsbury Hospital, Shrewsbury, UK.


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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