Inheritance of persistent foramen ovale and atrial septal defects and the relation to familial migraine with aura

• Published in: Heart (British Cardiac Society) Vol. 90; no. 11; pp. 1315 - 1320
• Main Authors: Wilmshurst, P T, Pearson, M J, Nightingale, S, Walsh, K P, Morrison, W L
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and British Cardiovascular Society 01-11-2004; BMJ; BMJ Publishing Group LTD; Copyright 2004 by Heart
• Subjects: Adult; Aged; ASD; atrial septal defect; Biological and medical sciences; Bubbles; Cardiology. Vascular system; Congenital Heart Disease; Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava; cyanotic congenital heart disease; Defects; Diseases in Twins - genetics; Echocardiography; Embolisms; Female; Headaches; Heart; Heart Septal Defects, Atrial - diagnostic imaging; Heart Septal Defects, Atrial - genetics; Hospitals; Humans; Illnesses; Inheritances; Male; Medical sciences; Middle Aged; Migraine; migraine aura; Migraine with Aura - genetics; Neurology; Patients; Pedigree; persistent foramen ovale; PFO; Pneumology; Respiratory system : syndromes and miscellaneous diseases; Stroke; Thromboembolism; Vascular diseases and vascular malformations of the nervous system; Nervous system diseases; Respiratory disease; Persistent fetal circulation; Family study; Migraine; Cardiovascular disease; Intracardiac defect; Foramen ovale; Congenital disease; Pulmonary hypertension; Cerebral disorder; Vascular disease; Newborn diseases; Pain; Respiratory failure; Malformation; Heart disease; Central nervous system disease; Atrial septal defect; Ostium secundum; Cerebrovascular disease
• ISSN: 1355-6037; 1468-201X
• DOI: 10.1136/hrt.2003.025700

Objective: To determine whether smaller atrial shunts (large persistent foramen ovale (PFO) and small atrial septal defect (ASD)) are inherited and whether this has a role in the inheritance of migraine with aura. Methods: Contrast echocardiography was used to detect atrial shunts in 71 relatives of 20 probands with a significantly sized atrial shunt (large PFO or ASD). Four families with three generations, 14 families with two generations, and two sibships were studied. The contrast echocardiograms were performed blind to history of migraine. A consultant neurologist, who was blinded to cardiac findings, categorised migraine symptoms in subjects. Results: The occurrence of atrial shunts was consistent with autosomal dominant inheritance. Usually shunts were large PFOs, but in some cases they were ASDs. There was also evidence that inheritance of more complex congenital heart disease may be related to the inheritance of PFOs. When the proband had migraine with aura and an atrial shunt, 15 of the 21(71.4%) first degree relatives with a significant right to left shunt also had migraine with aura compared with three of 14 (21.4%) without a significant shunt (p < 0.02). Conclusions: There is dominant inheritance of atrial shunts. This is linked to inheritance of migraine with aura in some families.