Isolated ductus arteriosus aneurysm in the fetus and infant: A multi-institutional experience

OBJECTIVE The purpose of this study was to describe the clinical characteri stics and outcome and to elucidate the pathogenesis of ductus arteriosus an eurysm (DAA). BACKGROUND Ductus arteriosus aneurysm is a rare lesion that can be associat ed with severe complications including thromboembolism, rupture and death. METHOD We reviewed the clinical records, diagnostic imaging studies and ava ilable histology of 24 cases of DAA, diagnosed postnatally (PD) in 15 and a ntenatally (AD) in 9 encountered in five institutions. RESULTS Of PD cases, 13 presented at <2 months, and all AD cases were detec ted incidentally after 33 weeks of gestation during a late trimester fetal ultrasound study. Of the 24, only 4 had DAA-related symptoms and 6 had asso ciated syndromes: Marfan, Smith-Lemli-Opitz, trisomies 21 and 13 and one po ssible Ehlers Danlos. Three had complications related to the DAA: thrombus extension into the pulmonary artery, spontaneous rupture, and asymptomatic cerebral infarction. Six underwent uncomplicated DAA resection for ductal p atency, DAA size or extension of thrombus. In the four examined, there was histologic evidence of reduced intimal cushions in two and abnormal elastin expression in two. Five of the 24 died, with only one death due to DAA. Of 19 survivors, all but one remain clinically asymptomatic at a median follo w-up of 35 months; however, two have developed other cardiac lesions that s uggest Marfan syndrome. A review of 200 consecutive third trimester fetal u ltrasounds suggests an incidence of DAA of 1.5%. CONCLUSIONS Ductus arteriosus aneurysm likely develops in the third trimest er perhaps due to abnormal intimal cushion formation or elastin expression. Although it can be associated with syndromes and severe complications, man y affected infants have a benign course. Given the potential for developmen t of other cardiac lesions associated with connective tissue disease, follo w-up is warranted. (C) 2000 by the American College of Cardiology.