Interrupted aortic arch – case report

Interrupted aortic arch is a rare ductal-dependent congenital heart malformation, accounting for 1.5% of all MCC, 2 in 100,000 cases of live newborns are diagnosed with IAA. We present the case of a 3-month-old infant who came to our clinic on the recommendation of the family doctor. On clinical examination, he presented an affected general state, peri oronasal cyanosis during moments of agitation, grade III/6 systolic murmur present throughout the precordial area, heart rate = 160 beats/min, respiratory rate = 45 breaths/min, SaO2 = 86 – 91% in atmospheric air, liver 4 cm below the costal rim. Echocardiography revealed a complete ductal-dependent congenital heart malformation, interrupted aortic arch, persistence of ductus arteriosus, wide muscular ventricular septal defect, hypoplasia of the ascending aorta. The angioCT examination confirmed the diagnoses from the echocardiography. During the genetic examination, the suspicion of DiGeorge syndrome was raised, which is why MLPA for microdeletions was required. The first therapeutic act performed was represented by maintaining the patency of the arterial channel. The patient was transferred to a clinic in Italy for the surgical intervention.