Peripheral Pulmonary Artery Stenosis Research Articles

Severe pulmonary hypertension with supraventricular arrhythmia due to adult peripheral pulmonary artery stenosis

Severe pulmonary hypertension with supraventricular arrhythmia due to adult peripheral pulmonary artery stenosis

Congenital Rubella Syndrome Presenting in Adulthood With Fatigue

A 28-year-old nonobese woman, with a history of hypertension, presented with fatigue and generalized weakness of 4-year duration. The physical examination was remarkable for bilateral pseudophakia, hypertension, and a basal systolic murmur radiating to the right axilla and back. All peripheral pulses were symmetrical, and there were no bruit, either over the renal artery or elsewhere. Funduscopy was unremarkable. Basic laboratory tests, including sodium, potassium, and renal function tests, were normal, but there was persistent, mild transaminitis without hyperbilirubinemia or raised alkaline phosphatase. She did not have diabetes mellitus or dyslipidemia. She has 2 healthy children. Her electrocardiogram and chest radiograph were essentially normal (Figures 1 and 2). Echocardiography showed mild bilateral peripheral pulmonary artery stenoses (PPS; ie, narrowing of the proximal left pulmonary artery [PA] and the upper lobe branch of the right PA), with a small patent ductus arteriosus (PDA) and normal biventricular function. Figure 1. Electrocardiogram with normal sinus rhythm, no chamber enlargement, or any ST-T changes. Figure 2. Chest radiograph demonstrates normal heart size and pulmonary vascularity. As part of her evaluation, she underwent a right heart catheterization 2 years previously that revealed a moderate increase in PA pressures (mean PA pressure = 43 mm Hg) with a systolic pressure gradient of 22 mm Hg between the right PA and the right upper lobe PA. Angiography of PA confirmed mild PPS at …

Genomic Analysis Of Notch Mutations In a Case Of Alagille Syndrome With Acute Lymphoblastic Leukemia

Alagille syndrome (ALGS), or arteriohepatic dysplasia, is a congenital multisystem disease due to Notch signalling pathway mutations, most commonly affecting JAG1 (ALGS type 1), and more rarely NOTCH2 (ALGS type 2), leading to hepatic, lung, renal and ocular dysfunction (chronic cholestasis, peripheral pulmonary artery stenosis, dysplastic kidneys pigmentary retinopathy), and skeletal abnormalies (minor vertebral segmentation, characteristic facies, posterior embryotoxon/anterior segment defects). ALGS is an autosomal dominant disease, but it is characterized also by variable penetrance and clinical expression and somatic/germline mosaicism.A 20-year-old man with ALGS was admitted to the University Hospital of Verona because of pancytopenia. Following analyses led to the diagnosis of Philadelphia chromosome/bcr-abl-negative, CD10-positive, B-lineage acute lymphoblastic leukemia (common B-ALL).In order to identify the genetic components involved in this complex phenotype, we sequenced the exome of a bone marrow sample collected from the patient. By genome interpretation with Knome pipeline applied to the reference genome UCSC hg19, we found missense variants both in NOTCH2 (E38K) and JAG1 (P871R) genes that are mainly involved in the syndrome, although their effect on protein function was predicted not to be deleterious. However, we detected putative damaging mutations in genes such as PAX5 (R38H) and NOTCH1 (K1821N) which might be strongly related to the observed disease. In fact, PAX5 is a member of PAX protein family of transcription factors implicated into regulation of early development, that binds NOTCH2 and likely altering its functionality. On the other hand, NOTCH1 is involved in cell growth and proliferation and thus the predicted alteration of function of the corresponding protein may have an important role in neoplastic transformation. Disclosures:No relevant conflicts of interest to declare.

Frequency and Risk of In-Stent Stenosis Following Pulmonary Artery Stenting

Peripheral and central pulmonary artery (PA) stenoses can result in right ventricular hypertension, dysfunction, and death. Percutaneous PA angioplasty and stent placement relieve obstruction acutely, but patients frequently require reintervention. Within a heterogeneous patient population with PA stents referred for catheterization because of noninvasive signs of PA obstruction, we have observed that in-stent stenosis (ISS) occurs commonly in some groups, challenging previous reports that this phenomenon occurs infrequently. We set out to evaluate the incidence and demographics of patients with previous PA stent placement who develop ISS. Consecutive patients with previously placed stents presenting for catheterization and undergoing PA angiography were reviewed (104 patients, 124 cases). We defined ISS angiographically, as a 25% narrowing of the contrast-filled lumen relative to the fluoroscopically apparent stent diameter at any site along the length of the stent. For inclusion, we required that the stenotic segment be narrower or equal in size to the distal vessel. ISS was diagnosed in 24% of patients, with the highest incidence among patients with tetralogy of Fallot and multiple aortopulmonary collaterals, Williams syndrome, or Alagille syndrome. In conclusion, ISS after PA stent placement is a more frequent problem than previously reported, and patients with inherently abnormal PAs are disproportionately affected. Increased clinical surveillance after stent placement and investigation of innovative preventive strategies may be indicated.

Outcomes After Primary Transcatheter Therapy in Infants and Young Children With Severe Bilateral Peripheral Pulmonary Artery Stenosis

Angioplasty and stent implantation have become accepted therapies for isolated peripheral pulmonary stenosis, and have been shown to increase vessel diameter and reduce right ventricular (RV) pressure acutely in patients with pulmonary artery (PA) stenosis. The purpose of this study was to assess long-term outcomes after primary transcatheter therapy for peripheral pulmonary stenosis. We studied 69 patients who underwent primary transcatheter intervention for severe isolated peripheral pulmonary stenosis at ≤ 5 years of age. Genetic/syndromic diagnoses included Williams syndrome (n=23), non-Williams familial arteriopathy (n=12), and Alagille syndrome (n=3). At the initial PA intervention, median RV:aortic pressure ratio decreased from 1.00 to 0.88 (median decrease, 0.18; P<0.001). Patients with a higher preintervention RV:aortic pressure ratio had a greater reduction (P<0.001). During follow-up (median, 8.5 years), 10 patients died, 5 from complications of PA catheterization (all before 1998). Thirteen patients underwent surgical PA intervention, most within 1 year and along with repair of supravalvar aortic stenosis. Freedom from any PA reintervention was 38 ± 6% at 1 year and 22 ± 6% at 5 years. The median RV:aortic pressure ratio decreased from 1.0 at baseline to 0.53 at the most recent catheterization (P<0.001), and 82% of patients with available clinical follow-up were asymptomatic. Transcatheter therapy for infants with severe peripheral pulmonary stenosis has become safer, regardless of genetic condition. Coupled with reintervention and surgical relief in selected cases, RV:aortic pressure ratios decrease substantially and most patients are asymptomatic at late follow-up.

A case of isolated bilateral pulmonary arterial calcification diagnosed in utero

We report a very rare case of isolated multiple pulmonary arterial calcification with severe bilateral peripheral pulmonary arterial stenosis diagnosed in utero. Despite treatment with bisphosphonate for 6 months, systolic right ventricular pressure increased persistently and surpassed left ventricular pressure. After successful bilateral pulmonary arterioplasty at 13 months of age, the patient showed decreased systolic right ventricular pressure with normal interventricular septal configuration. This is the first case report for an isolated pulmonary artery calcification without other arterial calcification proven by non-contrast computed tomography of a living patient.

AML presenting as a mediastinal mass and right ventricular failure

Extrinsic compression of the pulmonary arteries by mediastinal masses, while rare, is the most common cause of non-congenital peripheral pulmonary artery stenosis. Granulocytic myeloid sarcomas are an extramedullary manifestation of acute myeloid leukemia, with a wide variability in their presentation. They can present either de novo as soft tissue masses or in conjunction with acute myeloid leukemia. Myeloid sarcomas are uncommon and their prognosis is generally considered poor when present in patients with acute myeloid leukemia (AML). We present a case of a granulocytic myeloid sarcoma causing pulmonary artery stenosis and right ventricular failure. This case represents a unique cause of pulmonary arterial stenosis.

Surgical reconstruction of peripheral pulmonary artery stenosis in Williams and Alagille syndromes

Peripheral pulmonary artery stenosis is a rare congenital heart defect frequently found in association with Williams and Alagille syndromes. Controversy exists regarding the optimal treatment of peripheral pulmonary artery stenosis, with most centers favoring catheter-based interventions. In contrast, we have preferentially used surgical reconstruction of peripheral pulmonary artery stenosis. The purpose of the present study was to review our experience with surgical reconstruction of peripheral pulmonary artery stenosis. We performed a retrospective review of patients who underwent surgical reconstruction of peripheral pulmonary artery stenosis. A total of 16 patients were identified: 7 had Williams syndrome, 6 had Alagille syndrome, and 3 had no identifiable syndrome. Detailed pulmonary angiography was performed in all patients to define stenoses at the main, branch, lobar, and segmental arterial levels. The mean preoperative right ventricular/left ventricular pressure ratio was 0.88 ± 0.07. The surgical approach was a median sternotomy with cardiopulmonary bypass. All peripheral stenoses were augmented with pulmonary artery homograft tissue. The median age at surgery was 14 months, and concomitant procedures were performed in 9 of the 16 patients. There was 1 operative mortality (6%). The mean right ventricular/left ventricular pressure ratio decreased to 0.40 ± 0.04 postoperatively (P < .005), representing a 55% reduction compared with the preoperative values. The patients were followed up for a median of 5 years. No late mortality occurred and reoperation was not required. The data have demonstrate that this comprehensive surgical approach to the treatment of peripheral pulmonary artery stenosis was associated with low early and no late mortality. Surgical reconstruction of the peripheral pulmonary artery stenosis resulted in a significant decrease in right ventricular pressure. We hypothesize that this reduction in right ventricular pressures will confer a long-term survival advantage for this cohort of patients.

Cardiovascular abnormalities in Williams syndrome: 20 years’ experience in Istanbul

Aims Williams syndrome (WS) is a microdeletion syndrome aff ecting cardiovascular and connective tissue as well as the endocrine and central nervous systems in 1 in 10,000 live births. This study aims to identify and evaluate cardiovascular abnormalities (CVAs) in 45 WS patients. Patients and methods We retrospectively reviewed a cohort of WS patients who were followed at our institution from January 1, 1990 through December 31, 2010. WS was clinically diagnosed by an experienced medical geneticist and confi rmed by fl uorescence in situ hybridization. CVAs were assessed using electrocardiography, echocardiography or cardiac catheterization.Results Twenty-seven patients (60%) were male; 18 were female (40%). The mean age at presentation was 4.6 ± 3.1 years (3 months-13 years); the follow-up period was 6.9 ± 4.4 years (6 months-18 years). CVAs were found in 86% of patients, the most common one being supravalvar aortic stenosis (SVAS) in 73% (isolated in 48%), peripheral pulmonary artery stenosis (PAS) in 42%, and mitral valve prolapse (MVP) in 22%. Less common were aortic insuffi ciency (15%), ventricular septal defect (11%), valvular pulmonary stenosis (11%), and aortic arch hypoplasia (8%) and coarctation (2%). Hypertension was present in 22% of patients. Surgical or catheter-based interventions were performed in 22% of cases. Two patients were lost in the postoperative period.Conclusion CVAs were found in more than four out of fi ve patients, the most common ones being SVAS and PAS. Although surgery was performed in more patients with SVAS than with PAS, SVAS was minimal or mild in most patients and improved in few cases.

Peripheral pulmonary artery stenosis masquerading as pulmonary hypertension: A diagnostic and therapeutic challenge

Isolated peripheral pulmonary artery stenosis presenting in adulthood is an uncommon cause of right ventricular hypertension and may be misdiagnosed as primary or thromboembolic pulmonary hypertension. Treatment consists of balloon angioplasty and stenting of the affected vessels, although the procedure can be complicated by reperfusion pulmonary edema.

How to perform combined cutting balloon and high pressure balloon valvuloplasty for dogs with subaortic stenosis

Subvalvular aortic stenosis (SAS) is one of the most common congenital cardiac malformations in dogs. Unfortunately, the long term success rate and survival data following either open heart surgery or catheter based intervention has been disappointing in dogs with severe subaortic stenosis. Medical therapy is currently the only standard recommended treatment option. A cutting balloon dilation catheter has been used successfully for resistant coronary artery and peripheral pulmonary arterial stenoses in humans. This catheter is unique in that it has the ability to cut, or score, the stenotic region prior to balloon dilatation of the stenosis. The use of cutting balloon valvuloplasty combined with high pressure valvuloplasty for dogs with severe subaortic stenosis has recently been reported to be a safe and feasible alternative therapeutic option. The following report describes this technique, outlines the materials required, and provides some ‘tips’ for successful percutaneous subaortic balloon valvuloplasty.

Determination of TOF Characteristics in a Tertiary Care Centre of Bangladesh

Objective: Tetralogy of Fallot (TOF) is the commonest cause of cyanotic congenital heart disease (CHD) worldwide. The aim of this study was to determine the demography, associated anomalies and status of peripheral pulmonary stenosis (PPS), type of operation, operative results and complications in TOF physiology patient. Materials &amp; Methods: The records of 52 patients were reviewed. These patients were admitted from January 2007 to November 2009 in United Hospital Limited, Dhaka. Results: Male patients were 61.5% and females were 38.5%. The median age of surgery was 5 years and weight was 15 kg with severely undernourished patients were 27% and severely stunted were 11.5% respectively. Among the associated anomalies, percentage of patent ductus arteriosus (PDA), patent foramen ovale (PFO) / atrial septal defect (ASD), right aortic arch (RAA), coronary artery (CA) anomalies and peripheral pulmonary artery stenosis were 57.7%, 26.9%, 21.2%, 11.5% and 13.5% respectively. 13.5% TOF physiology patient had severely hypoplastic pulmonary annulus, 38.4% had severely hypoplastic MPA. TOF was more common in B blood group patients. About 11.5% patients underwent palliative operation (Gore-tex shunt) as the first operation. The youngest case was 7 days and the oldest 7.5 years old. Corrective operation, TC (Total correction) was done in 94%cases. The youngest patient undergoing TC was 1.5 years and the oldest one was 40 years old. Transannular patch (TAP) was used in 24 cases (46%). Post surgical overall mortality rate was 23% in three year which was 17.3% in 1st year, 3.84% in 2nd year and 1.92% 3rd year. Conclusion: In this study total correction (TC) was done in most of the cases (94%) and this should be recommended as the preferred management strategy for TOF physiology patient. The mortality rate decreases significantly as the team get experienced. DOI: http://dx.doi.org/10.3329/bjch.v34i3.10358 BJCH 2010; 34(3): 86-91

Williams-Beuren's Syndrome: A Case Report

Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

Agitated saline contrast use in a case with peripheral pulmonary artery stenosis

We present a case of peripheral pulmonary artery stenosis that was incidentally detected by agitated saline contrast study. A 19-year-old male patient underwent cardiologic examination to determine suitability for military service. He had exertional intolerance since early childhood. Physical examination showed a murmur over the entire right hemithorax. Echocardiography showed moderately enlarged right ventricle, right atrium, and main pulmonary artery, and color Doppler showed mild tricuspid regurgitation. Right ventricular systolic pressure was estimated as 55-60 mmHg from the tricuspid regurgitation jet. For further evaluation of the systolic murmur, agitated saline contrast echocardiography was performed. During continuous wave Doppler examination while there were remnants of bubbles in the right heart and pulmonary vascular bed, a systolodiastolic flow with a peak gradient of 30 mmHg was noted. After disappearance of the bubbles, the signal was not detectable. Repeat agitated saline contrast examination again showed a gradient of 35 mmHg. A stenosis in the distal branches of the right pulmonary artery was suspected. Finally, computed tomography revealed multiple stenoses in the pulmonary vascular bed. To our best knowledge, this is the first case in which agitated saline contrast examination enabled the diagnosis of peripheral pulmonary artery stenosis.

Alagille syndrome: pathogenesis, diagnosis and management

Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in JAG1 (ALGS type 1), but in a small proportion of cases mutation in NOTCH2 (ALGS type 2). The main clinical and pathological features are chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, minor vertebral segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. It follows autosomal dominant inheritance, but reduced penetrance and variable expression are common in this disorder, and somatic/germline mosaicism may also be relatively frequent. This review discusses the clinical features of ALGS, including long-term complications, the clinical and molecular diagnosis, and management.

Effects of stent implantation for peripheral pulmonary artery stenosis on pulmonary vascular hemodynamics and right ventricular function in a patient with repaired tetralogy of Fallot

Stent implantation is an effective alternative to surgery and balloon angioplasty for the treatment of stenotic vascular lesions. However, there is concern about the hemodynamic consequences related to the loss of vascular elasticity caused by the non-compliant property of the implanted stent. Here we report data for pulmonary vascular impedance and right ventricular performance after implantation of balloon-expanded stents for peripheral pulmonary stenosis in a 13-year-old girl with repaired pulmonary atresia and ventricular septal defect. Stent implantation reduced total vascular resistance, low-frequency impedance and wave reflection, and improved right ventricular contractile performance measured by the pressure-area relationship. However, pulmonary vascular wall stiffness remained elevated after stenting, and it was suggested that stent implantation resulted in a net increase in vascular wall stiffness. The long-term effects of implanted stents on vascular and ventricular hemodynamics need to be clarified.

Planning of catheter interventions for pulmonary artery stenosis: Improved measurement agreement with magnetic resonance angiography using identical angulations

To evaluate the current disagreement between the gold standard X-ray angiography (XRA) and magnetic resonance angiography (MRA) for the measurement of peripheral pulmonary artery stenosis (PPAS). MRA may help planning of catheter interventions for PPAS. However, there are sources of disagreement between XRA and MRA as measures are performed differently. We hypothesized that agreement may improve if identical angulation views are used. In this retrospective study, 17 patients were included. Four independent observers analyzed the pictures in three technique modalities: (1) XRA, (2) cross-sectional-MRA: reformatted to obtain the perpendicular cut-off view of the vessel, and (3) angulated-MRA: reformatted using the same angulations used in XRA. We measured: (a) minimal diameter at stenosis, (b) vessel diameter 1 cm proximal, and (c) 1 cm distal to the stenosis. While in elliptical vessels cross-sectional-MRA provided both the larger and smaller diameter, XRA and angulated-MRA typically provided only the larger diameter due to projections. We found poor agreement between the smaller diameter in cross-sectional-MRA and XRA. XRA underestimate the diameter at the three locations (<15-22%). However, there was a good agreement between the larger cross-sectional-MRA diameter and XRA. This further improved if MRA images were reformatted with the identical angulations used in XRA (angulated-MRA). Conventional cross-sectional-MRA measurements of PPAS only moderately agree with XRA. However, using identical angulations in MRA reduces the bias. Hence, MRA is a valuable tool for planning angulations and measurements of PPAS prior to catheter interventions.

Severe supravalvular aortic stenosis accompanied with multiple peripheral pulmonary artery stenoses: a delayed diagnosis in an adult patient

Abstract We present a case of a 28 years old male with delayed diagnosis of a severe supravalvular aortic stenosis accompanied with peripheral pulmonary artery stenosis and increased right ventricular pressure. The patient had been diagnosed since he was 3 years old to suffer from pulmonary artery hypertension of idiopathic origin. The diagnosis was made by tranthoracic echocardiography and magnetic resonance imaging.

MRI and Computed Tomography of Cardiac and Pulmonary Complications of Tetralogy of Fallot in Adults

Tetralogy of Fallot (TOF) represents the most common form of cyanotic congenital heart disease, accounting for 6.8% of all congenital heart disease. As surgical techniques and medical management of patients with TOF have improved, most affected patients are reaching adulthood. Though surgical outcomes are favorable (<2% early mortality rate), adults with TOF may experience complications from the long-term sequelae of congenital heart disease and complications related to treatment. We describe common and uncommon findings in adults with TOF, including pulmonary insufficiency, central and peripheral pulmonary artery stenosis and aneurysms, in addition to graft and shunt-related complications. Pulmonary function abnormalities and lung parenchymal imaging findings will be detailed. The diagnostic value of computed tomography and magnetic resonance imaging in adults with complications of TOF will be illustrated.

Multiple Abdominal Vascular Anomalies in a Patient with Alagille Syndrome

Alagille syndrome affects multiple organ systems. The most common vascular manifestation of Alagille syndrome is peripheral pulmonary artery stenosis. A few cases of abdominal vasculature involvement have been reported, particularly in the pediatric age group. Herein, the authors describe an adult patient with Alagille syndrome who presented with multiple visceral vascular abnormalities, including a high-grade stenosis of the celiac artery, superior mesenteric artery (SMA), aneurysms of the distal common hepatic artery, and distal SMA detected with computed tomographic angiography.