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Isolated ductus arteriosus aneurysm in the fetus and infant: a multi-institutional experience
U Dyamenahalli1, J F Smallhorn, T Geva
1Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada.
Insights
Ductus arteriosus aneurysm (DAA) is a rare condition often detected in the third trimester. While DAA can cause serious complications, many infants have a favorable outcome with appropriate follow-up.
Area of Science:
- Cardiology
- Pediatric Cardiology
- Fetal Medicine
Background:
- Ductus arteriosus aneurysm (DAA) is a rare cardiovascular malformation.
- DAA can lead to severe complications such as thromboembolism, rupture, and mortality.
- Early identification and understanding of DAA are crucial for patient management.
Purpose of the Study:
- To describe the clinical characteristics and outcomes of ductus arteriosus aneurysm (DAA).
- To investigate the pathogenesis of DAA.
- To determine the incidence of DAA in late-term pregnancies.
Main Methods:
- Retrospective review of clinical records, imaging, and histology from 24 DAA cases (15 postnatal, 9 antenatal).
- Analysis of associated syndromes, complications, and interventions.
- Review of 200 third-trimester fetal ultrasounds to estimate DAA incidence.
Main Results:
- DAA was diagnosed antenatally in 9 cases after 33 weeks gestation and postnatally in 15 cases, mostly within 2 months.
- Only 4 patients had DAA-related symptoms; 6 had associated syndromes (e.g., Marfan, trisomies).
- Complications included thrombus extension, rupture, and cerebral infarction; 5 of 24 patients died, only 1 from DAA. Estimated incidence is 1.5%.
Conclusions:
- Ductus arteriosus aneurysm likely arises in the third trimester due to abnormal intimal cushion or elastin formation.
- Despite potential for severe complications and association with syndromes, many infants with DAA experience a benign clinical course.
- Long-term cardiac follow-up is recommended due to potential development of other cardiac lesions, particularly in connective tissue disorders.
Objectives:
The purpose of this study was to describe the clinical characteristics and outcome and to elucidate the pathogenesis of ductus arteriosus aneurysm (DAA).
Background:
Ductus arteriosus aneurysm is a rare lesion that can be associated with severe complications including thromboembolism, rupture and death.
Method:
We reviewed the clinical records, diagnostic imaging studies and available histology of 24 cases of DAA, diagnosed postnatally (PD) in 15 and antenatally (AD) in 9 encountered in five institutions.
Results:
Of PD cases, 13 presented at <2 months, and all AD cases were detected 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 associated syndromes: Marfan, Smith-Lemli-Opitz, trisomies 21 and 13 and one possible 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 patency, 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 follow-up of 35 months; however, two have developed other cardiac lesions that suggest Marfan syndrome. A review of 200 consecutive third trimester fetal ultrasounds suggests an incidence of DAA of 1.5%.
Conclusions:
Ductus arteriosus aneurysm likely develops in the third trimester perhaps due to abnormal intimal cushion formation or elastin expression. Although it can be associated with syndromes and severe complications, many affected infants have a benign course. Given the potential for development of other cardiac lesions associated with connective tissue disease, follow-up is warranted.