Dysplastic Valve Research Articles

Accessory aortic-valve tissue as a cause of severe aortic regurgitation: intra-operative finding

Figure 1: Transesophageal echocardiogram showed a dysplastic tricuspid aortic valve (AV) with asymmetrical annular dilation (a) and a severe eccentric aortic regurgitation. The jet was directed posteriorly into the left ventricular outflow tract (anterior mitral leaflet), due to an extreme traction of the non-coronary (NC) cusp and a pseudo-prolapse of the right coronary (RC) cusp generating a large coaptation gap in diastole (b). The basal short axis view (a) shows a thin fibrotic tissue attached to the middle free edge of the NC simulating a double contour of RC (*). On long axis view frame-by-frame (c-e) two filamentous mobile tissues are evident on the aortic surface of the NC and RC cusps (arrows).

Repair of Tetralogy of Fallot with Ascending and Proximal Aortic Arch Aneurysm: Case Report

Abnormalities in the aorta of patients with tetralogy of Fallot (TOF) can lead to aortic dilatation and aortic regurgitation. We report a six-year-old male with TOF with dysplastic aortic valve, severe aortic regurgitation, and aortic aneurysm involving the aortic root, ascending aorta, and the proximal aortic arch, who underwent TOF repair with aortic replacement up to the proximal aortic arch with a composite graft without circulatory arrest.

A multilobulated intracardiac mass in Ebstein's malformation

A 49-year-old man with Ebstein's malformation presented with a 2-year history of increasing dyspnoea. Transthoracic echocardiography showed severe tricuspid regurgitation, no tricuspid stenosis, and, in retrospect, evidence of a mass adjacent to the dysplastic tricuspid valve ( Panels A and B , arrowed). Imaging by cardiovascular magnetic resonance (CMR) confirmed Ebstein's malformation and showed …

Tricuspid valve blood cysts in infancy

A 2.5 months old boy was found dead in bed with his mother. He had been delivered by normal vaginal delivery after an unremarkable pregnancy at 41 weeks gestation. His only significant history had been an admission to hospital for dehydration secondary to viral gastroenteritis at 7 weeks of age. Prior to his death he had a cough, wheezing and runny nose for several days, attributed to a viral upper respiratory infection. On the night of his death he had been taken to bed by his mother at approximately 0100 hours, fed at approximately 0330 hours and found unresponsive in a supine position at 1,100. He had last been seen alive in the supine position. At autopsy there was mild pulmonary congestion, mild pallor and mottling of the cut surfaces of the liver, reactive enlargement of cervical and paratracheal lymph nodes and turbid fluid within the left and right middle ear cavities. There were no signs of injury. A finding of note on the atrial surface of the tricuspid valve were two 0.5 mm diameter dark red nodules adjacent to the free margin of the mildly dysplastic valve (Fig. 1). Histologic evaluation of the lungs revealed congestion and mild edema with patchy post mortem bacterial overgrowth. Smaller bronchioles showed mild focal peribronchiolar infiltrates of mononuclear cells, variable numbers of neutrophils and occasional eosinophils. The lumina of the affected bronchioles contained necrotic cellular debris and occasional multinucleate syncytial epithelial cells. The appearances were of bronchiolitis in keeping with a viral infection. These changes were not severe and were seen in only some of the sections. There was also mild microvesicular steatosis of the liver and reactive follicular hyperplasia of lymph nodes. Neuropathological examination of the brain showed early hypoxic-ischemic changes with widespread granular b-amyloid precursor protein axonal immunoreactivity possibly related to the hypoxic-ischemic injury. Sections of the small nodules noted macroscopically on the tricuspid valve showed small cystic cavities within the valve leaflet adjacent to the free margin lined by flattened endothelium that contained degenerate red blood cells. The appearances were those of tricuspid valve blood cysts (Fig. 2). Bacteriological studies yielded mixed growths from the right lung, blood and left and right middle ears, in keeping with post mortem contamination. Virological studies

Insight into pathologic abnormalities in congenital semilunar valve disease based on advances in understanding normal valve microstructure and extracellular matrix

Congenitally diseased valves are relatively frequent causes of significant morbidity and mortality. Pathology descriptions of such valves have primarily focused on gross structural features including the number of leaflets or commissures (bicuspid/bicommissural valve) and alterations in the contour, thickness, and consistency of the leaflets (dysplastic valve). Functional correlates of these pathologic alterations are valvar stenosis, insufficiency, or both. Further characterization of the microstructural abnormalities seen in these malformed valves may not only provide insight into the correlation of distinct pathologies with their respective pathogenesis and clinical sequelae but also prove pivotal in uncovering new avenues for therapeutic interventions and prevention regimens. This review summarizes microstructural findings in congenital semilunar valve disease (CSVD) and discusses their relevance in light of recent advances in knowledge of normal valve microstructure, biology, and function. Specifically, the biological and mechanical roles of various matrix components and their interactions are discussed in the context of CSVD. Indeed, recent research in normal valves adds significant insight into CSVD and raises many hypotheses that will need to be addressed by future studies.

Non-Destructive, High-Resolution 3-Dimensional Visualization of a Cardiac Defect in the Chick Embryo Resembling Complex Heart Defect in Humans Using Micro-Computed Tomography

Nondestructive, high-resolution 3-dimensional (3D) imaging of the embryonic heart remains a challenge in cardiovascular development research. In the past, several imaging techniques (eg, magnetic resonance microscopy, optical coherence tomography) were tested for their suitability to visualize the 3D morphology of embryonic hearts. Most of these imaging tools have their drawbacks with respect to resolution and depth penetration. Here we present, to the best of our knowledge, the first high-resolution 3D images of normal and malformed embryonic chick hearts at the 10 μm level generated by microcomputed tomography (micro-CT) examination of critical point-dried heart specimens. Cardiac anatomy is demonstrated in great details with respect to myocardial fiber arrangement and trabeculations as well as atrioventricular (AV) and semilunar valves. Positions of great vessels with associated ventricular septal defects are visualized in high quality in malformed hearts. Figure 1A shows the normal 4-chambered heart of a day 9 chick embryo with correct positioning of the heart chambers and great vessels. Figure 1B depicts an image of a malformed embryonic chick heart in which both great arteries are significantly shifted toward the right side with extreme dextroposition of the aorta, and both great arteries arise from the right ventricle (double outlet right ventricle [DORV]). Note also that both atrial appendages are located to the left of the great arteries (left juxtaposition of atrial appendages [LJAA]). The cardiac defect that we present here in the chick embryo resembles a rare complex heart defect known in humans, as depicted in a classic drawing by Frank Netter, MD, in the Netter Collection of Medical Illustrations – Heart (Figure 1C, reproduced with permission from netterimages.com). Figure 1. Photographs of day 9 embryonic chick hearts (A and B, respectively) and a drawing of a malformed human …

A family with a newelastingene mutation: broad clinical spectrum, including sudden cardiac death

Supravalvular aortic stenosis is associated with the Williams-Beuren syndrome, but it also occurs in a non-syndromatic congenital form. An elastin gene mutation of chromosome 7q11.23 is responsible in both cases. The vascular features are identical. These patients have a higher risk of sudden death, particularly when undergoing diagnostic or surgical procedures. We report the account of a family with a new mutation in the elastin gene. Screening over three generations revealed eight affected individuals. The cardiac and vascular malformations ranged from mild asymptomatic supravalvular aortic stenosis and isolated dysplastic atrioventricular valves to diffuse arterial hypoplasia. Two infants presented arteries affected at multiple locations, including the left coronary artery. Both died of sudden cardiac death and myocardial ischaemia, one while under general anaesthesia for cardiac catheterisation, and the other perioperatively. We discuss the pathophysiological aspects in these patients that deserve consideration before any general anaesthesia is administered.

631 Critical Supravalvular Aortic Stenosis in a Family with a New Elastin Gene Mutation

Background and aims: An elastin gene mutation causes manifold vascular stenosis in patients with Williams-Beuren Syndrome, but also in a nonsyndromatic congenital form. These patients have a higher risk of sudden death, particularly when undergoing diagnostic or surgical procedures. Methods: We performed Molecular genetic investigation of the elastin - Gen in one family. The cardiac and vascular malformations in these patients were determined and 2 lethal clinical courses are described. Results: Screening over 3 generations revealed 8 affected individuals with a new Elastin - gen mutation. The cardiac and vascular malformations range from mild asymptomatic supravalvular aortic stenosis and isolated dysplastic atrioventricular valves to diffuse arterial hypoplasia. Two infants presented arteries affected at multiple locations, including the left coronary artery. Both died of sudden heart death and myocardial ischemia, one while under general anesthesia for cardiac catheterization, the other perioperatively. Conclusions: In patients with arterial narrowing, elastin - Gen mutation should be considered. These patients have special pathophysiological aspects. Any application of general anesthesia should undergo careful scrutiny and only be performed by well-experienced anesthesiologists anticipating such problems.

Repair of Congenitally Absent Chordae in a Tricuspid Valve Leaflet with Hypoplastic Papillary Muscle Using Artificial Chordae

Isolated congenital tricuspid regurgitation without downward displacement of the leaflet is uncommon in adults, and repair of such valves often requires a procedure that is more complex than simple tricuspid annuloplasty. We describe a technique of tricuspid valvoplasty using the neo-papillary loop technique to reconstruct multiple artificial chords for isolated congenital tricuspid regurgitation associated with a dysplastic anterior leaflet with agenesis of the chordae tendineae and a hypoplastic anterior papillary muscle. This technique provides a simple and valuable option for the repair of dysplastic valves lacking chordae, even those with a hypoplastic papillary muscle.

Extracellular matrix remodeling and cell phenotypic changes in dysplastic and hemodynamically altered semilunar human cardiac valves

Congenital cardiac valve disease is common, affecting ∼1% of the population, with substantial morbidity and mortality, but suboptimal treatment options. Characterization of the specific matrix and valve cell phenotypic abnormalities in these valves could lend insight into disease pathogenesis and potentially pave the way for novel therapies. Thirty-five human aortic and pulmonic valves were categorized based on gross and microscopic assessment into control valves (n=21); dysplastic valves, all except one also displaying hemodynamic changes (HEMO/DYSP, n=6); and hemodynamically altered valves (HEMO, n=8). Immunohistochemistry was performed on valve sections and flow cytometry on valvular interstitial cells. While both hemodynamically altered aortic and pulmonic valves demonstrated increased collagen turnover and cell activation, prolyl 4-hydroxylase and hyaluronan increased in hemodynamically altered aortic valves but decreased in hemodynamically altered pulmonic valves relative to control valves (P<.001). HEMO/DYSP aortic valves demonstrated decreased collagen and elastic fiber synthesis and turnover compared to both hemodynamically altered aortic valves and control aortic valves (each P<.006). Valvular interstitial cells from both hemodynamically altered and HEMO/DYSP pulmonic valves showed altered cell phenotype compared to control valves (each P<.032), especially increased non-muscle myosin. Furthermore, valvular interstitial cells from hemodynamically altered pulmonic valves and HEMO/DYSP aortic and pulmonic valves each demonstrated greater size and complexity compared to control valves (each P<.05). Dysplastic semilunar valves displayed alterations in collagen and elastic fiber turnover that were distinct from valves similarly exposed to altered hemodynamics as well as to control valves. These results demonstrate that dysplastic valves are not simply valves with gross changes or loss of leaflet layers, but contain complex matrix and cell phenotype changes that, with future study, could potentially be targets for novel nonsurgical treatments.

A new variety of double-chambered left ventricle

An 11-year-old girl with aortic stenosis diagnosed at the age of 2 years presented with a 3-year history of increasing effort angina, syncope, and NYHA class IV. A transthoracic echocardiogram revealed a dysplastic trileaflet aortic valve with a peak gradient of 70 mmHg. The left ventricle (LV) was divided into two separate chambers by a thick non-contractile membrane traversing the LV cavity horizontally at the level of the papillary muscles. Cardiovascular magnetic resonance (CMR) confirmed the presence …

Radical surgery for a ventricular septal defect associated with trisomy 18

Congestive heart failure is one of the major causes of early death of patients with trisomy 18. Ventricular septal defect (VSD) is the most common heart defect in patients with trisomy 18, and closure of the VSD may elongate the lifespan of the patient. Morphological characteristics of these patients, such as thoracic deformity, prominent right ventricular hypertrophy, and dysplastic tricuspid valve may complicate closure of the VSD. We report our initial experience of VSD closure in patients with trisomy 18 and estimate the feasibility of the surgical procedure. Between June 2005 and September 2007, five female patients with trisomy 18 and VSD underwent radical operations. Four of them had undergone previous palliative surgery entailing pulmonary artery banding. All patients survived surgery. The average cardiac arrest time during surgery was 74 +/- 22 min. No early death occurred within 30 days of surgery. One patient with hydrocephalus treated by a previous ventriculoperitoneal shunt died in hospital owing to postoperative intracranial hypertension. Four of five patients were discharged from the hospital. Of the four discharged patients, a girl who underwent primary radical operation died of pneumonia. Another patient died of sudden cardiopulmonary arrest. The average survival of the patients in this study was 815 +/- 389 days at data acquisition, with two patients still alive. Closure of VSDs in patients with trisomy 18 was found feasible and was associated with extended survival.

Of parachutes and tricuspid valves

We would like to congratulate Purvis et al. on their marvellous images of a dysplastic tricuspid valve apparatus1 and thank them for their interest in our own case report on an unusual anterior papillary muscle of the tricuspid valve.2 Before discussing their proposed label ‘parachute-like asymmetric tricuspid valve’ for both our cases, it is worth reflecting on the normal anatomy of the tricuspid valve apparatus. As the name implies, the tricuspid valve consists of three leaflets, named according to their location: septal, posterior (often the smallest), and anterior (mostly the largest) leaflet. From an anatomical study published in 1971, we know the anterior leaflet often shows a notch close to the anteroseptal commissure, which in three-dimensional …

Role of High-pressure Balloon Valvotomy for Resistant Pulmonary Valve Stenosis

Pulmonary valve (PV) balloon valvotomy (BV) is considered the treatment of choice for isolated pulmonary valve stenosis (IPVS). While immediate and long-term results of PVBV are usually excellent, the reported results in dysplastic valves are variable. High-pressure (HP) PVBV in dysplastic valves that fail low-pressure (LP) PVBV may increase success rate, reducing the need for surgical interventions. We reviewed all cases of IPVS in patients <3 years old, who underwent PVBV between August 1999 and March 2004. Study outcomes were initial success rate (gradient post PVBV < 30 mm Hg) and freedom from reintervention. Possible predictors of failure to LP-PVBV were explored (age, hemodynamic data, PV leaflet maximal thickness, diameter/z-scores for PV annulus, sinotubular junction, and subvalvar area). All 35 patients (16 neonates, 5 with critical IPVS) underwent LP-PVBV with immediate success in 27 (80%). All eight patients who failed LP-PVBV successfully underwent HP-PVBV. Upon follow-up (27 +/- 24 months), two patients (6.9%) required reintervention after LP-PVBV (LP-PVBV at 3 months, HP-PVBV at 2 months with success, both reintervention free thereafter), and one patient (12.5%) after HP-PVBV (surgical right ventricular outflow tract patch at 33 months) (Fisher's exact test = 0.5). There were no major immediate or long-term complications. After nonparametric median regression, age (2 vs. 11 months, P < .001) and PV maximal thickness (0.13 vs. 0.24 cm, P= .026) were the only predictors of failure to LP-PVBV. HP-PVBV can be performed safely in patients with IPVS that fail LP-PVBV, with high success rate and acceptable long-term results. Failure to LP-PVBV is difficult to predict.

Long-term results after correction of persistent truncus arteriosus in 83 patients

This study aims to analyse long-term results after correction of truncus arteriosus in all patients operated in one institution over 28 years. Between 1981 and 2009, 83 patients, median age 54 days, underwent repair of truncus arteriosus. Interrupted aortic arch was present in 14 (17%), severe truncal valve insufficiency in 10 (12%) and non-confluent pulmonary arteries in five (6%) patients. Repair with reconstruction of the right ventricular to pulmonary artery continuity was performed using a valved conduit in 80, and other methods in three patients. At the same time, correction of interrupted aortic arch was done in 14 and truncal valve repair in eight patients. Survivors were repeatedly examined echocardiographically for assessment of residual heart lesions. The early mortality was 19 (23%). Out of 35 patients operated between 1981 and 1996, 17 (46%) died, and out of 48 patients operated between 1997 and 2009, two (4%) died. Operation before 1997 (p=0.001) and aortic cross-clamping time >90min (p=0.009) were found to be risk factors of death. Eight (10%) patients died late, a median of 68 days after surgery. Fifty-seven (69%) patients were followed for 10.9 + or - 6.7 years. Three (4%) patients were lost. Twenty-five (30%) patients are alive with their original conduit 7.5 + or - 5.2 years after correction. Twenty-eight patients required 41 re-operations for conduit dysfunction with first replacement at mean 5.8 + or - 4.1 (range 0.1-14.1 years) years after correction. Nine (11%) patients required 12 truncal valve replacements. Eleven (13%) patients required balloon dilatation or stent for conduit obstruction, pulmonary branch stenosis, aortic arch obstruction or stenosis of vena cava. Recent clinical examination was undertaken in 53 (64%) patients and 49 (59% or 77% of early survivors) are in good/very good condition. Truncus arteriosus remains a challenging heart disease. With growing experience, the early mortality decreased to 4%, but numerous re-interventions for conduit obstruction, pulmonary branch stenosis and truncal valve insufficiency are required. Surgery before 1997 and prolonged cross-clamping were risk factors of death. Pulmonary homografts had the best re-intervention-free survival. Statistically, however, the difference between conduits was not significant. Dysplastic valve and truncal valve insufficiency represent risk factors presenting the need for truncal valve replacement.

Multiplanar review of three-dimensional echocardiography gives new insights into the morphology of Ebstein’s malformation

We aimed to assess the ability of the multiplanar review modality of three-dimensional echocardiography to examine the dynamic morphology and the functional characteristics of malformed tricuspid valves in patients previously identified as having Ebstein's malformation. Based on these characteristics, we attempted to differentiate Ebstein's malformation from tricuspid valvar dysplasia. Using three-dimensional multiplanar review, analysed with either Qlab 6.0 or Tomtech Image Arena 3.0, we studied 23 patients, aged from 1 day to 70 years, previously diagnosed using cross-sectional echocardiography as having Ebstein's malformation. Using the features of rotational abnormality, and the orientation, of the effective tricuspid valvar orifice as diagnostic features of Ebstein's malformation, we reclassified 11 patients (48 per cent) as exhibiting tricuspid valvar dysplasia. In addition, we studied the dynamic morphology as well as the function of the tricuspid valve. Surgical treatment was undertaken on 10 patients, revealing good correlation with the findings obtained using three-dimensional multiplanar review. In those with Ebstein's malformation, we found varying degrees of rotation, with the effective valvar orifice always directed towards the right ventricular outflow tract. The opening of the orifice of dysplastic tricuspid valves, in contrast, was towards the apex of the right ventricle. The degree of delamination, and abnormalities of subcordal apparatus, were similar in the two groups. Three-dimensional multiplanar review permits accurate definition of the dynamic morphology of Ebstein's malformation, permitting clear differentiation from tricuspid valvar dysplasia.

Isolated Left Ventricular Apical Hypoplasia

the apex of the right ventricular cavity as the left intraventricular pressure increases. Differential diagnosis of this pathology requires the presence of left ventricular hypoplasia, aneurysms and ventricular diverticula. The ventricular hypoplasia is characterized by a small and hypertrophic ventricular chamber and dysplastic cardiac valves. The diverticul originates on the ventricular wall at a narrow joint and are more frequent in the LV. Ventricular aneurysms are acquired defects, located at a wide junction, that buckle during systole.

Truncal Valve Repair in Neonates Using Pericardial Leaflet Extension

Truncal valve insufficiency is a significant risk factor for post-operative mortality following repair of truncus arteriosus. The surgical management of dysplastic and insufficient truncal valves remains an operative challenge. We report the cases of two infants with type 2 truncus arteriosus and severely dysplastic and insufficient quadricuspid truncal valves. At primary repair, their truncal valves were successfully repaired using pericardial leaflet extensions. This technique may be used in neonates with truncal valve insufficiency as part of the primary repair of truncus arteriosus.

Analysis of congenital heart defects in 87 consecutive patients with Brachmann‐de Lange syndrome

Congenital heart defects (CHDs) have been estimated to occur in approximately 20% of patients with Brachmann-de Lange syndrome (BDLS, also known as Cornelia de Lange syndrome, OMIM 122470). We report on the results of a prospective echocardiographic evaluation of a cohort of 87 Italian BDLS patients with longitudinal follow-up from 5 to 12 years. A cardiac anomaly was identified in 29/87 (33.3%) including 28 (32.2%) patients with a structural CHD, and an additional patient (1.2%) with isolated non-obstructive hypertrophic cardiomyopathy (HCM). Of the 28 patients with a CHD, 12 (42.9%) had an isolated obstructive CHD, 10 of which were pulmonary stenosis (36%), 8 (28.6%) had an isolated left to right shunt, and the remainder showed a combination of structural anomalies. Overall incidence of pulmonary stenosis was 39% (11/28). Isolated late-onset mitral or tricuspid valve dysplasia, albeit hemodynamically insignificant, was detected at follow-up examination in 4 (14.3%) patients older than 10 years, previously known to be normal. In contrast to previous studies, only two patients required surgery, one for closure of a large perimembranous ventricular septal defect (VSD) and associated ASD closure (1), and another for VSD closure and relief of pulmonary valve stenosis (1). The remainder are receiving medical follow-up. We believe that the overall frequency (33.3%) and evidence of 4 late onset dysplastic valves anomalies justifies both echocardiographic assessment in all BDLS patients at the first diagnostic assessment, and later on during medical follow-up.

Incidence and outcome of congenital anomalies of the kidney and urinary tract detected by prenatal ultrasonography: a single center study

Purpose: This study assessed the incidence and outcome of congenital anomalies of the kidney and urinary tract (CAKUT) detected by prenatal ultrasonography Methods: There were 906 cases of CAKUT detected by prenatal ultrasonography and postnatally confirmed at the Asan Medical Center from October 1989 to October 2007. We investigated the incidence and outcome of these cases by reviewing medical records retrospectively. Results: The order of incidence was hydronephrosis, multicystic dysplastic kidney (MCDK), duplex kidney, vesico-ureteral reflux (VUR), single kidney, hydroureteronephrosis, ectopic kidney, polycystic kidney, ureterocele, and posterior urethral valve (PUV). There were 520 cases (57.4%) of hydronephrosis, and 20% of these needed an operation due to significant obstruction. MCDK was associated with other CAKUT in 25.4% of all cases. Approximately 57.9% of duplex kidney cases needed surgical treatment due to ureterocele and VUR. VUR had a male: female ratio of 10:1. Two out of seven cases of autosomal recessive polycystic kidney had progressed to chronic renal failure. Patients with PUV were relatively uncommon, and one out of nine cases progressed to end-stage renal disease. Conclusion: CAKUTs detected by prenatal ultrasonography were composed of various anomalies, and almost all of them had a good outcome without any intervention. However, in some cases, recurrent urinary tract infection or renal failure occurred, especially in bilateral cases. For further management, a long-term multicenter study is needed to investigate the precise incidence and outcome of each anomaly in the general population. (Korean J Pediatr 2009;52:464-470)