Patient identified with interrupted aortic arch and 22q11.2 deletion syndrome in late pregnancy: a case report

Interrupted aortic arch (IAA) is an uncommon congenital heart malformation that can be fatal with no surgical intervention. Most patients have IAA discovered as newborns because of cardiac symptoms, and atypical adult patients are relatively rare. We report a case of atypical adult IAA in a woman in her 20s. Her first pregnancy and childbirth did not show any obvious abnormalities. Although this patient did not have any major clinical manifestations, she developed tachycardia during her second pregnancy and was diagnosed with IAA by echocardiography. The etiology of IAA was chromosome 22q11.2 deletion syndrome based on the results of whole-exome sequencing. After interdisciplinary diagnosis and treatment to reduce the pulmonary artery pressure and cardiac burden, the patient and her newborn had a favorable prognosis. This case highlights the importance of not overlooking cardiovascular concerns in patients who develop symptoms in pregnancy. Echocardiography can detect IAA, and genetic testing may assist in an etiological diagnosis, which improves the maternal and fetal prognosis.