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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