Supravalvular Pulmonic Stenosis Research Articles

Pulmonary artery stenosis versus supravalvular pulmonic stenosis: Correctly describing a congenital stenosis of the pulmonic outflow tract in a domestic cat

AbstractPulmonary artery stenosis and pulmonic stenosis are rare congenital heart diseases in domestic cats. This case describes the incidental finding of pulmonary artery stenosis in an asymptomatic cat that was originally described as pulmonic stenosis; it highlights the criteria for differentiation of the two conditions. This cat was initially diagnosed at 1.5 years with pulmonic stenosis. During a recheck at 13 years of age, the stenotic lesion was determined to be anatomically supravalvular rather than at the level of the valve. There was debate as to whether the lesion should be classified as supravalvular pulmonic stenosis, but ultimately, pulmonary artery stenosis was considered more appropriate. There are discrepancies in the literature regarding what the qualifications for these conditions are, and if supravalvular pulmonic stenosis is the appropriate terminology. The purpose of this case report is to further explore these qualifications to justify the diagnosis of pulmonary artery stenosis in this patient.

Transvalvular pulmonic stent angioplasty: procedural outcomes and complications in 15 dogs with pulmonic stenosis

IntroductionBalloon valvuloplasty is the treatment of choice for dogs with severe type A pulmonic stenosis (PS), but less successful for dogs with annular hypoplasia and unsuitable for supravalvular stenosis or cases with a circumpulmonary coronary malformation. We report outcomes and complications of the first 15 consecutive transvalvular pulmonic stent angioplasty procedures performed by a single center in dogs with PS. AnimalsFifteen dogs with naturally occurring PS were included in the study. Materials and methodsDogs underwent echocardiography before and four weeks after the procedure. Transvenous approaches were used to deploy a pre-mounted, balloon-expandable metallic stent in all cases. ResultsOf 15 dogs, all had annular hypoplasia, and in addition, supravalvular stenosis was diagnosed in 11 of 15 dogs, and three had R2A coronary malformation. All dogs survived to discharge. One dog died less than four weeks postoperatively (non-cardiac), but 14 of 15 dogs were re-examined at four weeks. Severity reduced in all cases; median pressure gradient reduced from 137 mmHg (range 81–202 mmHg) to 83 mmHg (range 31–155 mmHg). Clinical signs improved in all cases, and hematocrit reduced in all dogs with erythrocytosis. The median follow-up time was 280 days (range 95–896 days). Over one-year follow-up was available in six of fifteen dogs. Two dogs died because of refractory right-sided congestive heart failure signs: one at 10 months and one at 22 months postoperatively. ConclusionsTransvalvular pulmonic stent angioplasty technique was associated with an improvement in clinical signs and reduction in stenosis severity for all dogs in this population, including cases with supravalvular PS or circumpulmonary coronary malformation.

Front Cover

AbstractThe cover image is based on the Original Article Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome by Hisham Alkuraya et al., https://doi.org/10.1111/cge.13676. image

Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.

Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and systemic evaluation of patients homozygous for RAMSVPS syndrome causative IGFBP7 variant. New clinical details on 22 previously published and 8 previously unpublished patients are described. Age at first presentation ranged from 1 to 34 years. The classical feature of macroaneurysms and vascular beading involving the retinal arteries was universal. Follow up extending up to 14 years after initial diagnosis revealed recurrent episodes of bleeding and leakage from macroaneurysms in 55% and 59% of patients, respectively. The majority of patients who underwent echocardiography (18/23) showed evidence of heart involvement, most characteristically pulmonary (valvular or supravalvular) stenosis, often requiring surgical correction (12/18). Four patients died in the course of the study from complications of pulmonary stenosis, cerebral hemorrhage, and cardiac complications. Liver involvement (usually cirrhosis) was observed in eight patients. Cerebral vascular involvement was observed in one patient, and stroke was observed in two. We conclude that RAMSVPS is a recognizable syndrome characterized by a high burden of ocular and systemic morbidity, and risk of premature death. Recommendations are proposed for early detection and management of these complications.

Supravalvular Pulmonic Stenosis with Pulmonary Hypertension in a Bedlington Terrier Dog

Supravalvular Pulmonic Stenosis with Pulmonary Hypertension in a Bedlington Terrier Dog

Echocardiographic Findings of Congenital Valvular Heart Disease in Young Athletes

Here the author shows two cardiac ultrasound images of otherwise healthy young athletes recorded during sports preparticipation screening. Figure 1 shows the typical aortic valve deformity called, “hockey stick”, of the bicuspid aortic valve magnified by parasternal long axis view, while Figure 2 shows the typical finding of type I supra-valvular pulmonic stenosis, involving main pulmonary artery, visualized by parasternal short axis view. Despite the congenital heart valvular anomalies, both athletes were considered fit to sports competition. Congenital cardiac anomalies are frequent in young athletes, however in most cases the physical fitness is not compromised. Echocardiography is the mainstay in the diagnosis and follow-up assessment of young athletes with congenital heart disease.

Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms

Insulin-like growth factor binding proteins (IGFBPs) play important physiological functions through the modulation of IGF signaling as well as IGF-independent mechanisms. Despite the established role of IGFs in development, a similar role for the seven known IGFBPs has not been established in humans. Here, we show that an autosomal-recessive syndrome that consists of progressive retinal arterial macroaneurysms and supravalvular pulmonic stenosis is caused by mutation of IGFBP7. Consistent with the recently established inhibitory role of IGFBP7 on BRAF signaling, the BRAF/MEK/ERK pathway is upregulated in these patients, which may explain why the cardiac phenotype overlaps with other disorders characterized by germline mutations in this pathway. The retinal phenotype appears to be mediated by a role in vascular endothelium, where IGFBP7 is highly expressed.

Autologous Pericardium Patch Aneurysm after Ventricular Septal Defect Closure and Arterial Switch Operation

A neonate with L-transposition of the great arteries with ventricular septal defect underwent complete repair using fresh autologous pericardium to close the ventricular septal defect as well as to reconstruct the neo pulmonary artery sinuses. Four months later, the child came back with right ventricular inflow obstruction related to aneurysmal pericardial patch, severe tricuspid regurgitation, and severe supra-valvular pulmonic stenosis. At reoperation, there was a redundant, aneurysmal pericardial patch densely adherent to the septal and posterior leaflets of the tricuspid valve, which was damaged. The pericardial patch was replaced, the pulmonary artery enlarged, and tricuspid valve repaired. Postoperative course was uneventful, but residual moderate tricuspid regurgitation required intensive medical treatment.

Transcatheter intravascular stent placement to relieve supravalvular pulmonic stenosis

Valvular pulmonic stenosis has been successfully treated in dogs via minimally invasive transcatheter balloon dilation procedures for almost 20 years. Supravalvular pulmonic stenosis however is not amenable to balloon dilation procedures. Although several surgical procedures are described for treatment of pulmonic stenosis, the morbidity and mortality of these procedures are significantly higher than for transcatheter approaches. Two cases of supravalvular pulmonic stenosis are presented, one acquired and one congenital, which were successfully treated with transcatheter intravascular stent placement. The procedure alleviated the stenotic lesion and resolved clinical signs.

Reoperation after the arterial switch operation for transposition of the great arteries

Although most children after an arterial switch operation for transposition of the great arteries have normal development and cardiac function, a few require reoperation. During the last 10 years, 68 of 753 patients who underwent arterial switch operations (9.3%) underwent 75 reoperations. Thirty underwent early reoperation (< 30 days or during the same hospital stay) and 38 underwent late reoperation. Causes for reoperation included pacemaker insertion (n = 5), left diaphragm plication (n = 4), revision for hemostasis (n = 1), mediastinitis (n = 2), superior vena cava thrombosis (n = 9), subvalvular pulmonic stenosis (n = 5), supravalvular pulmonic stenosis (n = 16), residual atrial (n = 2) or ventricular (n = 8) septal defects, isolated mitral valve insufficiency (n = 2), aortic valve insufficiency (either isolated [n = 1] or in association with mitral incompetence [n = 1] or stenosis [n = 1]), left coronary artery ostial stenosis (n = 1), and recurrent aortic (n = 6) or neoaortic (n = 4) aortic coarctation. In all but 27 patients, the residual defects were already present immediately after the completion of the arterial switch operation; however, only patients with critical lesions were reoperated on early. Interventional catheterization procedures were performed when indicated; however, they only postponed inevitable reoperation. Successful relief of superior vena cava thrombosis was achieved by atriojugular bypass grafting in two patients, by early open thrombectomy in six patients, and by direct patch angioplasty of the superior vena cava once. Patch plasty for subvalvular or supravalvular pulmonic stenosis was carried out in 21 patients, septal defect closure was carried out in nine patients, and pulmonary artery banding was performed in one patient with criss-cross atrioventricular relationship and multiple ventricular septal defects. Valve repair was performed in all five patients with either isolated or combined aortic and mitral valve dysfunction. One patient with left coronary ostial stenosis underwent a patch enlargement of this ostium. Recoarctation was repaired by end-to-end anastomosis in eight patients and by a subclavian flap and a patch angioplasty in one patient each. Seven patients underwent a second reoperation for supravalvular pulmonary stenosis (n = 3), mitral valve replacement (n = 1), ventricular septal defect closure (n = 1), and recurrent coarctation (n = 2). There were six intraoperative (8.8%) and two late deaths. All early deaths occurred after early reoperations.(ABSTRACT TRUNCATED AT 400 WORDS)

Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery: Pre- and Postoperative Echocardiography Findings in Three Unusual Cases

Diagnosis of anomalous left coronary artery from the pulmonary artery was prospectively established by color Doppler echocardiography in three patients. In two asymptomatic girls, aged 10 years and 5 years respectively, referred for evaluation of a murmur with normal ECG and chest X ray, two-dimensional and pulsed-Doppler examination showed no intracardiac abnormalities. Color flow mapping detected flow in a dilated right coronary artery and left coronary artery to pulmonary artery shunting. Color guided pulsed-Doppler examination permitted further evaluation of coronary flow. Another child had a dilated cardiomyopathy with an echo-dense anterolateral papillary muscle and mitral insufficiency. Postoperative echoes after subclavian to left coronary artery anastomosis and ligation of the left coronary artery at its origin showed residual high-velocity shunting resulting in reoperation in one case and a moderate supravalvular pulmonic stenosis in another. These findings further emphasize the benefit of color Doppler echocardiography in the pre- and postoperative evaluation of anomalous left coronary artery. (ECHOCARDIOGRAPHY, Volume 8, September 1991)

Supravalvular pulmonic stenosis, abnormal facial appearance, and mental retardation

A case of supravalvular pulmonic stenosis in a mentally retarded girl is described. She had a peculiar face and malocclusion of the teeth. A possible relationship with the syndrome of supravalvular aortic stenosis, characteristic facies, and mental retardation is discussed.