Pulmonary Vein Stenosis as a Cause of Pulmonary Hypertension in Trisomy 21
Presented By:
Adam Lobbestael, Sana Khan, Ahmed Deniwar, Joseph Vettukattil
Michigan State University College of Human Medicine and Helen DeVos Children's Hospital
lobbest5@msu.eduOverview:
Background: One third of patients with trisomy 21 have congenital heart defects and pulmonary hypertension (PH) is often associated. Etiologies vary and the PH is often labeled as idiopathic. One potential cause is pulmonary vein (PV) stenosis. This has been documented as very rare with incidence well below 1%. Echocardiography can suggest PV stenosis but cannot rule it out. Cardiac catheterization or CT angiography are necessary to do so. These are performed in far fewer patients, which may allow PV stenosis to go undetected. Accordingly, the incidence of PV stenosis causing PH in trisomy 21 patients may currently be underreported.
Methods: A retrospective chart review was conducted on all trisomy 21 patients presented to the Betz congenital heart center between 2012 and 2022. For patients identified as having persistent PH, charts were reviewed to ascertain if PV stenosis had been diagnosed. Data on diagnostic testing (echocardiography, cardiac catheterization, and CT angiography) was also collected. Using available data, the incidence of PV stenosis in trisomy 21 patients with PH presenting to our program was calculated.
Results: 81 patients were identified with trisomy 21 and PH. Among them, 8 (9.9%) were confirmed to have PV stenosis. Of the 81 patients with trisomy 21 and PH, 31 (38.3%) had cardiac catheterizations performed and 22 (27.2%) had CT angiography performed. Of the 73 patients without PV stenosis, 37 (50.7%) had no cardiac catheterization or CT angiography.
Conclusion: PV stenosis as a cause of PH in trisomy 21 patients is considerably more prevalent than currently acknowledged. Without cardiac catheterization or CT angiography, PV stenosis may go undetected. As the majority of our patients did not undergo cardiac catheterization or CT angiography, the incidence of PV stenosis may be underestimated. Considering the high incidence of PV stenosis in this group and its prognosis, we recommend that all patients with trisomy 21 and PH should undergo cardiac catheterization to exclude PV stenosis for appropriate prognostication, intervention, and management.
Methods: A retrospective chart review was conducted on all trisomy 21 patients presented to the Betz congenital heart center between 2012 and 2022. For patients identified as having persistent PH, charts were reviewed to ascertain if PV stenosis had been diagnosed. Data on diagnostic testing (echocardiography, cardiac catheterization, and CT angiography) was also collected. Using available data, the incidence of PV stenosis in trisomy 21 patients with PH presenting to our program was calculated.
Results: 81 patients were identified with trisomy 21 and PH. Among them, 8 (9.9%) were confirmed to have PV stenosis. Of the 81 patients with trisomy 21 and PH, 31 (38.3%) had cardiac catheterizations performed and 22 (27.2%) had CT angiography performed. Of the 73 patients without PV stenosis, 37 (50.7%) had no cardiac catheterization or CT angiography.
Conclusion: PV stenosis as a cause of PH in trisomy 21 patients is considerably more prevalent than currently acknowledged. Without cardiac catheterization or CT angiography, PV stenosis may go undetected. As the majority of our patients did not undergo cardiac catheterization or CT angiography, the incidence of PV stenosis may be underestimated. Considering the high incidence of PV stenosis in this group and its prognosis, we recommend that all patients with trisomy 21 and PH should undergo cardiac catheterization to exclude PV stenosis for appropriate prognostication, intervention, and management.
