History and exam
Key diagnostic factors
common
systolic ejection murmur
Best heard at the left upper sternal border. The murmur often radiates to the back.
Produced by excess volume of blood crossing the pulmonary valve (functional pulmonary valve stenosis).
Shortens in patients with Eisenmenger's physiology.
fixed splitting of the second heart sound
Second heart sound does not become single with expiration.
Fixed splitting disappears in patients with Eisenmenger's physiology.
Other diagnostic factors
uncommon
presence of risk factors
Key risk factors include female sex and maternal alcohol consumption.
mid-diastolic murmur
Best heard along the lower sternal border.
Due to excess volume of blood crossing the tricuspid valve. Can only be heard if there is a moderate or greater degree of left-to-right shunt.
Disappears in patients with Eisenmenger's physiology.
congestive cardiac failure
Rare presentation that usually does not occur until after the fifth decade of life. Symptoms include fatigue, decreased exercise tolerance, dyspnoea on exertion, orthopnoea, paroxysmal nocturnal dyspnoea, and oedema.
Rare in infants; the main presenting symptom is tachypnoea.
faltering growth
Infants with interatrial communications may present with faltering growth.
Congenital heart disease should always be excluded in infants and children with unexplained faltering growth.
symptoms of atrial arrhythmias
Symptoms include rapid palpitations, dizziness, or shortness of breath.
Can occur in adult patients with an undiagnosed interatrial communication. Incidence of atrial arrhythmias increases with age, especially between the fifth and seventh decades of life.[8]
cyanosis
Occurs in cases of shunt reversal (Eisenmenger's syndrome).
finger clubbing
Associated with a range of cyanotic congenital heart diseases, including Eisenmenger's syndrome.
Risk factors
strong
female sex
Ostium secundum atrial septal defects have a female-to-male predominance of 2:1.[14]
maternal alcohol consumption
Maternal alcohol consumption during pregnancy has been associated with an increased prevalence of congenital heart disease.[19] Endocardial cushion defects have been associated with antenatal alcohol exposure, but associations with interatrial communications in general are less well established.[19][22]
weak
positive family history
Most cases of interatrial communications are sporadic. However, rare cases of familial interatrial communications have been identified, caused by mutations in the transcription factors NKX2.5 and TBX5, and the structural protein MYH6.[16][17][18] Associations with genetic syndromes (e.g., trisomy 21, Holt-Oram syndrome, Noonan syndrome) are well documented.
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