No abstract

There is limited reported experience of catheterization therapy for peripheral pulmonary stenosis (PPS) at a surgical site in the early postoperative period. We reviewed the clinical course of patients undergoing interventional catheterization for PPS at a surgical site < 7 weeks after surgery. Successful dilation (SD) was defined as > 50% increase in predilation diameter. From 1984 to 2000, 17 patients had 19 proximal pulmonary arteries dilated 1 to 46 (median 8) days postoperatively. Median age and weight were 3.1 year and 12.7 kg. Three arteries were initially occluded. Seventeen arteries had initial BD with postintervention imaging available in 15; 8 arteries had SD. The arterial diameter increased from 3.9 +/- 2.6 to 5.5 +/- 2.8 mm (P < 0.001). Nine of these arteries had stents placed with diameter increasing to 8.7 +/- 3.7 mm (P < 0.001 compared with post-BD diameter). Stents increased the diameter in all arteries and made four of four failed BD successful. In the two most recent procedures, stents were placed without prior BD with diameter increasing from 1.3 to 9 mm and 8.2 to 14 mm. A stent was placed in 1 of 7 arteries prior to 1993 and in 10 of 12 arteries thereafter (P < 0.004). Three patients prior to 1995 had catheterization-related deaths secondary to vessel rupture after BD. BD produces SD in approximately one-half of the procedures but is associated with mortality. Stent placement increases vessel diameter substantially more than BD alone. Stents reduce the acute complication rate and avoid early reoperation in this patient group.

Dilation or aneurysm of the ascending aorta can progress to acute aortic dissection (Thoracic Aortic Aneurysms and Aortic Dissections, TAAD). Mutations in genes encoding TGF-β related proteins (TGFBR1, TGFBR2, FBN1, and SMAD3) cause syndromic and inherited TAAD. SMAD4 mutations are associated with juvenile polyposis (JPS) and a combined JPS-hereditary hemorrhagic telangiectasia (HHT) known as JPS-HHT. A family with JPS-HHT was reported to have aortic root dilation and mitral valve abnormalities. We report on two patients with JPS-HHT with SMAD4 mutations associated with thoracic aortic disease. The first patient, an 11-year-old boy without Marfan syndrome features, had JPS and an apparently de novo SMAD4 mutation (c.1340_1367dup28). Echocardiography showed mild dilation of the aortic annulus and aortic root, and mild dilation of the sinotubular junction and ascending aorta. Computed tomography confirmed aortic dilation and showed small pulmonary arteriovenous malformations (PAVM). The second patient, a 34-year-old woman with colonic polyposis, HHT, and Marfan syndrome, had a SMAD4 mutation (c.1245_1248delCAGA). Echocardiography showed mild aortic root dilation. She also had PAVM and hepatic focal nodular hyperplasia. Her family history was significant for polyposis, HHT, thoracic aortic aneurysm, and dissection and skeletal features of Marfan syndrome in her father. These two cases confirm the association of thoracic aortic disease with JPS-HHT resulting from SMAD4 mutations. We propose that the thoracic aorta should be screened in patients with SMAD4 mutations to prevent untimely death from dissection. This report also confirms that SMAD4 mutations predispose to TAAD.