Dysplastic Valve Research Articles

Long-term outcomes following mitral valve replacement in children at heart center Leipzig: a 20-year analysis

BackgroundAlthough mitral valve repair is the preferred surgical strategy in children with mitral valve disease, there are cases of irreparable severe dysplastic valves that require mitral valve replacement. The aim of this study is to analyze long-term outcomes following mitral valve replacement in children in a tertiary referral center.MethodsA total of 41 consecutive patients underwent mitral valve replacement between February 2001 and February 2021. The study data was prospectively collected and retrospectively analyzed. Primary outcomes were in-hospital mortality, long-term survival, and long-term freedom from reoperation.ResultsMedian age at operation was 23 months (IQR 5–93), median weight was 11.3 kg (IQR 4.8–19.4 kg). One (2.4%) patient died within the first 30 postoperative days. In-hospital mortality was 4.9%. Four (9.8%) patients required re-exploration for bleeding, and 2 (4.9%) patients needed extracorporeal life support. Median follow-up was 11 years (IQR 11 months − 16 years). Long-term freedom from re-operation after 1, 5, 10 and 15 years was 97.1%, 93.7%, 61.8% and 42.5%, respectively. Long-term survival after 1, 5, 10 and 15 years was 89.9%, 87%, 87% and 80.8%, respectively.ConclusionIf MV repair is not feasible, MV replacement offers a good surgical alternative for pediatric patients with MV disease. It provides good early- and long-term outcomes.

Dysplastic Mitral Valve in Costello Syndrome

Costello syndrome is an autosomal dominant condition caused by variants in the HRAS gene. Cardiac presentation includes valvular disease (usually valvar pulmonary stenosis), arrhythmias, and hypertrophic cardiomyopathy. To our knowledge, this is the first such report of dysplastic mitral valve associated with Costello syndrome.

Large cameral coronary artery fistula in a 5 months old infant with unusual presentation and fatal outcome: -case report

BackgroundCongenital coronary fistulas (CAFs) are uncommon abnormalities communicating the coronary arteries with the cardiac chambers or portion of the systemic or pulmonary circulation. Over 90% of the cases drain into the right side of the heart with only 3% terminating in the left ventricle. Infants with a large CAFs may develop congestive heart failure.Case presentationA 5 months old female infant presented with labored breathing and worsening of bluish discoloration of the lips and extremities following a prolonged cry. She had a history of breastfeeding difficulty and noticeable bluish discoloration of the lips and extremities since birth. The infant was wasted and had a fast heart rate, bluish lips, and nail beds with clubbing of fingers and toes. A cardiac murmur was noted during her medical checkup. Chest x-ray showed cardiomegaly. Echocardiography and CT angiography showed large Cameral CAF involving the left main and left anterior descending artery draining into the left ventricle. The tricuspid valve was dysplastic, there was secundum ASD, and VSD with a right to left shunt. The patient developed episode of cyanotic spells after crying excessively following a CT angiographic procedure which culminated in respiratory arrest and her demise. She was managed as a case of hypoxic spells in the ICU before her death.ConclusionThis report unveiled unfamiliar case of Cameral coronary artery fistula with left-to-left shunting, cyanosis, and dysplastic tricuspid valve.

The concept of cone creation to treat isolated tricuspid valve dysplasia and the case of a double-orifice tricuspid valve.

Isolated tricuspid valve dysplasia is a rare disease characterized by a wide spectrum of possible anomalies. We describe the use of the Cone concept to treat a patient with a double-orifice tricuspid valve with massive regurgitation and severe deficit of coaptation. Three adult patients with congenital non-Ebstein tricuspid valve anomaly characterized by severe coaptation deficiency underwent tricuspid valve repair applying the Cone technique. In particular, we describe the case of a symptomatic 21-year-old woman with a double-orifice tricuspid valve, with massive regurgitation and severe right ventricular dilatation. The tricuspid valve was transformed from a double-orifice valve into a single-orifice valve. The most superior orifice was opened, and the tissue surrounding the orifice was used to extend the leaflet of the inferior orifice. A Cone was created, and a ring annuloplasty was used to stabilize the result. The patient was discharged home after 7days with trivial residual tricuspid regurgitation and no significant antegrade gradient. The final coaptation height was 2.8cm. The cardiothoracic ratio decreased from 0.77 to 0.59 after 2 months, and symptoms promptly improved. Over the past 2 years, we have applied the Cone creation concept to patients with a severely dysplastic tricuspid valve with excellent early results. One patient had a double-orifice tricuspid valve, and a Cone repair concept was adopted anyway. One orifice was sacrificed, and surrounding tissue was used to augment the leaflets of the other orifice. A Cone was created to improve central coaptation with a good initial result.

A rare coexistence: Hammock mitral valve and aortopulmonary window.

Congenital mitral stenosis is a broad-spectrum pathology in which blood flow to the left ventricle is obstructed both functionally and anatomically. Hammock mitral valve, also known as anomalous mitral arcade, is a rare congenital anomaly particularly in infants and children. Hammock mitral valve may not be suitable for repair regarding the advanced dysplastic mitral valve structure. Aortopulmonary window is an unusual cardiac anomaly which is defined as a communication between the main pulmonary artery and the ascending aorta. As a result of the excessive left-to-right shunt, early intervention and surgical closure deemed mandatory to avoid development of severe pulmonary hypertension and its consequences. All patients with an aortopulmonary window necessitates prompt repair immediately. In this brief report, mitral valve replacement with a mechanical valve and repair of aortopulmonary window with a Dacron patch were performed simultaneously in a 5-month-old patient with a hammock mitral valve and accompanying aortopulmonary window.

Application of the Alfieri technique for the resolution of tricuspid dysplasia in 7 canines

The application of the Alfieri technique in humans is a well-known and pioneering thechnique that was replaced by modern atrioventricular valve repair strategies.1,2 This technique in canines and also in humans is yet a valid alternative, particullary to canine tricuspid dysplasia.1 The “strategy” consists to transform the “monorificial” dysplastic tricuspid valve insufficiency into a “biorificial” one by means of a suturing at the level of the valve apposition face in the site of greatest regurgitant flow. The surgical field is cleared from blood by means of occlusion of both venae cavae. With this strategy the reduction of the insufficiency jet was achieved in 7 canine carriers of said congenital pathology. The technique demonstrated its anatomical reliability, repeatability, low mortality, and low cost. Of the total number of cases operated on, one patient died the day after surgery, another patient a year later due to non-cardiac causes, and the rest continue under clinical follow-up at the time of presenting this series.

Common Arterial Trunk in Fetal Life: Accuracy of Diagnosis and Prediction of Outcome

Introduction: Common arterial trunk (CAT) is a congenital heart disease with significant perinatal mortality in which diagnostic agreement remains low. Methods: We conducted a retrospective cohort study on fetuses with suspected CAT. Diagnostic accuracy was tested considering gold-standard postnatal ultrasound or necropsy. Prenatal sonographic markers were evaluated by logistic regression for perinatal survival. Results: There were 79 fetuses with suspected CAT, and 55 cases had available necropsy/postnatal ultrasound confirming the study population. The diagnostic accuracy was 90.9% for CAT and 83.6% at a subtype level. In those with a confirmed diagnosis and intention-to-treat (n = 28) composite early mortality (intrauterine, presurgical, and early surgery) was of 25%, 10.5% in isolated cases. The OR for early-mortality of isolated cases was 0.13 (95% confidence interval [CI]: 0.03–0.75). After adjusting for isolated cases, the only prognostic prenatal markers of perinatal mortality were a dysplastic truncal valve OR 7.78 (95% CI: 1.23–49.13) and a stenotic flow OR 8.48 (95% CI: 1.40–51.10). Conclusion: CAT is a condition that if evaluated by experts, can be diagnosed with a high degree of accuracy. It remains an entity with high perinatal mortality. Its most important prognostic factor is its association with other anomalies. In isolated cases, the presence of a dysplastic truncal valve and a stenotic flow increase the chances of perinatal death.

Occlusion of the os of the left coronary artery by dysplastic aortic valve tissue presenting as progressive mitral insufficiency and cardiac arrest.

Mitral regurgitation in the neonatal period is relatively rare. It can be secondary to a congenital malformation of the valve apparatus or mitral valve dysfunction and deformation secondary to myocardial dysfunction or volume load of the left ventricle. Less commonly, it can be due to coronary artery abnormalities leading to mitral valve papillary muscle ischaemia and subsequent dysfunction. Such coronary artery abnormalities include anomalous left coronary artery from pulmonary artery, left main coronary artery atresia, or a thromboembolic phenomenon. In this study, we describe a newborn with a dysplastic aortic valve causing obstruction of the os of the left coronary artery leading to progressive mitral insufficiency.

Awareness of a Rare Diagnosis: CIA of the Coronary Sinus (A Case Report)

Interatrial communication is a common congenital heart disease in adulthood. It is subdivided into four distinct groups based on location. Coronary sinus type is the rarest one and represents less than 1% of interatrial septal defects. Its echocardiographic diagnosis can be difficult. We report the case of a 27-year-old female patient, admitted to the emergency department for management of a poorly tolerated supraventricular tachycardia, referred to cardiology after cardioversion. Clinical examination revealed a SaO2 of 95%, a B2 burst at the pulmonary site. The ECG in sinus rhythm showed right bundle branch block and right atrial hypertrophy. Echocardiography showed dilated right chambers, coronary sinus atrial septal defect with a left-to-right shunt, dysplastic mitral valve, and pulmonary pression was estimated at 85mmhg on tricuspid insufficiency flow; right ventricular function was normal. The patient was treated with B-blocker and VKA with a good clinical course. She is waiting a right catheterization to decide on surgical closure of the atrial septal defect. Through this case, we wanted to underline the importance of not omitting the echocardiographic search for a defect of the roof of the interatrial septum in front of a volumetric overload of the right cavities.

Aortic Valve Repair in Neonates With Aortic Stenosis and Reduced Left Ventricular Function

This study assessed outcomes of neonatal aortic valve (AoV) repair in presumed high-risk patients with depressed left ventricular (LV) function. A retrospective analysis of all neonates who underwent isolated AoV repair for severe aortic stenosis (AS) was performed. Patients with moderate or severe LV dysfunction were compared to those with normal or mild LV dysfunction. From 1980-2021, 43 neonates underwent isolated AoV repair for AS. Of these, 16 patients (37.2%) had ≥moderate LV dysfunction. Mean LV ejection fraction (EF) was 32.8 ± 9.1%. Valve morphology was mostly unicuspid (68.75%, 11/16). Median age at surgery was 6.5 days (IQR 1-17.5). An optimal repair result with ≤mild AS or aortic regurgitation was achieved in 75% (12/16). There was no early death. One patient (6.25%) required postoperative extracorporeal membrane oxygenation (ECMO) support for 3 days. LVEF improved after surgery to 56.4 ± 12.6% before discharge (P < 0.0001) and normalized in 87.5% (14/16) with a median time of 6.4 days (IQR 3.4-39). Freedom from AoV reoperation was 45.1% (95%CI 17.9-69.3%) and 27.1% (95%CI 6.8-53%) at 5 and 10 years, respectively. Freedom from AoV replacement was 59% (95%CI 27-80.8%) and 31.4% (95%CI 6-62.2%) at 5 and 10 years, respectively. While survival was similar, freedom from AoV reoperation and replacement tended to be lower compared to neonates with preserved LVEF. AoV repair was associated with a low incidence of postoperative ECMO and mortality. LV function normalized after relief of obstruction in most patients before discharge. Late reoperation remained common for those with severely dysplastic valves.

Shone’s complex: An extremely rare congenital cardiac anomaly in a preterm newborn

Shone’s Anomaly (SA) is a rare congenital cardiac malformation that consists of four obstructive lesions of the left heart and the aortic arch. We report on a preterm infant with Respiratory Distress syndrome diagnosed with SA after cardiac auscultation revealed a loud second heart sound. A 2D echocardiogram study revealed a large ventricular septal defect and a variant of SA consisting of sub-valvular aortic stenosis, hypoplastic aortic arch, coarctation of the aorta, and dysplastic mitral valve along. The infant underwent a successful Hybrid procedure at two months of age consisting of pulmonary artery banding, stenting of the patent ductus arteriosus, and placement of an atrial stent. Although SA can present in infancy, we have not found a separate report of a preterm infant with SA in the literature. This case presentation raises awareness about this anomaly, sheds light on the importance of careful cardiac examination in newborns, and emphasizes the importance of an echocardiographic exam in evaluating preterm infants with an unusual course of RDS.

A Term Infant with a Murmur and Dysmorphic Features.

A Term Infant with a Murmur and Dysmorphic Features.

The aorto-left ventricular tunnel from a fetal perspective: Original case series and literature review.

IntroductionAorto‐left ventricular tunnel (ALVT) accounts for <0.1% of congenital heart defects. Evidence on the prognosis from a fetal perspective is limited. With this retrospective international case series, we provide information on the outcome of fetuses with ALVT.MethodsAll members of the Association for European Pediatric and Congenital Cardiology's (AEPC) fetal working group and fetal medicine units worldwide were invited for participation. We observed antenatal parameters, neonatal outcome and postnatal follow‐up. Additionally, a systematic search of the literature was performed.ResultsTwenty fetuses with ALVT were identified in 10 participating centers (2001–2019). Fetal echocardiographic characteristics of ALVT included an increased cardiac–thorax ratio (95%), left ventricular end‐diastolic diameter (90%) and a dysplastic aortic valve (90%). Extracardiac malformations were rare (5%). Eight fetuses died at a median gestational age (GA) of 21 + 6 weeks (range, 19–24): all showed signs of hydrops prior to 24 weeks or at autopsy. All others (60%, 12/2) were live–born (median GA 38 + 4, range 37–40), underwent surgery and were alive at last follow up (median 3.2 years, range 0.1–17). The literature reported 22 ALVT fetuses with similar outcome.ConclusionsIn the absence of fetal hydrops, ALVT carries a good prognosis. Fetuses who survive to 24 weeks without hydrops are likely to have a good outcome.

Abstract 17250: Novel Association Of Left Ventricular Outflow Tract Obstructions With Chromosome 5p Deletions

Case Presentation: Patient 1: Female infant diagnosed with Cri du Chat Syndrome (CdCS) (Fig. 1A), hypoplastic left heart syndrome variant (Fig. 1 B), duodenal atresia (Fig. 1 E, F), IUGR. Chromosomal microarray (CMA) showed a 4.3 Mb deletion at 5p15.33 (Fig. 1A) and a 32.2 Mb duplication of 5q32. Dysmorphisms including hypertelorism, low set ears, and micrognathia were noted. Echocardiogram showed a hypoplastic left ventricle, mitral valve dysplasia (Fig. 1B), dysplastic aortic valve (Fig. 1C), interrupted aortic arch (Fig. 1D). Patient 2: Male infant prenatally diagnosed with aortic valve stenosis, aortic arch hypoplasia (Fig. 1H, I), and IUGR. Multiple dysmorphic features including microcephaly, hypertelorism, down slanting palpebral fissures, and abnormal distal extremities. CMA revealed a large deletion at 5p13.33-p13.2 (Fig 1G). He underwent aortic valvuloplasty complicated by development of a posterior left ventricular wall pseudoaneurysm (Fig. 1J). He later underwent arch reconstruction. At 2 months of age, he was diagnosed with obstructive jaundice requiring a biliary drain (Fig.1K, L). He had been gaining weight and height steadily (Fig.1M, N). We identified 5 more patients with 5p deletions and left outflow tract obstructions (LVOTO) from the Cytogenomics of Cardiovascular Malformations Consortium (Table 1). Discussion: CdCS is the most common 5p deletion syndrome and is associated with mild congenital heart defects in 15-30% of individuals. There is no reported association between LVOTO and 5p deletions. These 7 patients did not all share the same deletions and had high mortality. Further studies are needed to better understand possible genetic etiologies.

844 A Case of Pulmonary Artery Banding for Future Anatomical Repair in Congenitally Corrected Transposition of the Great Arteries (ccTGA)

Abstract This is a case of a patient prenatally diagnosed with ccTGA. Immediately after birth, postnatal transthoracic echocardiography diagnosed ccTGA with concomitant Ebstein’s anomaly of the tricuspid valve, without a ventricular septal defect (VSD). Initially, this dysplastic tricuspid valve had mild tricuspid regurgitation. However, by 12 months follow up, the patient was becoming symptomatic, and their tricuspid regurgitation had become severe. Due to the patients worsening symptoms and regurgitation, clinical intervention was pursued. The patient had Cardiovascular Magnetic Resonance performed to assess for myocardial fibrosis and to measure the size of each ventricle. After imaging and MDT discussion, the patient was deemed suitable for a double switch operation, a form of anatomical repair. However, since this patient did not have pulmonary stenosis (PS), they required a pulmonary artery (PA) band before anatomical repair. This procedure has dual benefits: to retrain the morphological left ventricle (mLV) to cope with systemic pressures, and to induce a septal shift, which can reduce the severity tricuspid regurgitation. At 18 months of age, this patient had their PA band placed. The patient immediately had a reduction in the severity of their tricuspid regurgitation. In the future, this patient will have cardiac catheterisation performed to measure mLV pressures and assess when the patient is ready for anatomical repair. The morphology of this patient is rare, as most patients with ccTGA have an associated VSD. This case describes a potential management pathway for a ccTGA patient without VSD and an Ebstenoid tricuspid valve. It also demonstrates the benefits of PA banding in a ccTGA patient with this morphology. This is a unique contribution, due to the rarity of this specific morphology and the limited evidence and guidance for its successful management.

Dual role for CXCL12 signaling in semilunar valve development.

SummaryCxcl12-null embryos have dysplastic, misaligned, and hyperplastic semilunar valves (SLVs). In this study, we show that CXCL12 signaling via its receptor CXCR4 fulfills distinct roles at different stages of SLV development, acting initially as a guidance cue to pattern cellular distribution within the valve primordia during the endocardial-to-mesenchymal transition (endoMT) phase and later regulating mesenchymal cell proliferation during SLV remodeling. Transient, anteriorly localized puncta of internalized CXCR4 are observed in cells undergoing endoMT. In vitro, CXCR4+ cell orientation in response to CXCL12 requires phosphatidylinositol 3-kinase (PI3K) signaling and is inhibited by suppression of endocytosis. This dynamic intracellular localization of CXCR4 during SLV development is related to CXCL12 availability, potentially enabling activation of divergent downstream signaling pathways at key developmental stages. Importantly, Cxcr7-/- mutants display evidence of excessive CXCL12 signaling, indicating a likely role for atypical chemokine receptor CXCR7 in regulating ligand bioavailability and thus CXCR4 signaling output during SLV morphogenesis.

A role of Hey2 transcription factor for right ventricle development through regulation of Tbx2-Mycn pathway during cardiac morphogenesis.

A basic helix-loop-helix transcription factor Hey2 is expressed in the ventricular myocardium and endocardium of mouse embryos, and Hey2 null mice die perinatally showing ventricular septal defect, dysplastic tricuspid valve and hypoplastic right ventricle. In order to understand region-specific roles of Hey2 during cardiac morphogenesis, we generated Hey2 conditional knockout (cKO) mice using Mef2c-AHF-Cre, which was active in the anterior part of the second heart field and the right ventricle and outflow tract of the heart. Hey2 cKO neonates reproduced three anomalies commonly observed in Hey2 null mice. An earliest morphological defect was the lack of right ventricular extension along the apico-basal axis at midgestational stages. Underdevelopment of the right ventricle was present in all cKO neonates including those without apparent atresia of right-sided atrioventricular connection. RNA sequencing analysis of cKO embryos identified that the gene expression of a non-chamber T-box factor Tbx2 was ectopically induced in the chamber myocardium of the right ventricle. Consistently, mRNA expression of the Mycn transcription factor, which was a cell cycle regulator transcriptionally repressed by Tbx2, was down regulated, and the number of S-phase cells was significantly decreased in the right ventricle of cKO heart. These results suggest that Hey2 plays an important role in right ventricle development during cardiac morphogenesis, at least in part, through mitigating Tbx2-dependent inhibition of Mycn expression.

Effectiveness and safety of balloon pulmonary valvuloplasty in newborns and infants

Balloon pulmonary valvuloplasty (BPVP) is the procedure of choice for the treatment of isolated pulmonary valve stenosis. Complications and failure of the procedure are more common in newborns and infants. Aim: To establish the effectiveness and safety of BPVP in newborns and infants. Material and methods: Ninety-one infants (11 newborns) with isolated pulmonary valve stenosis and mean age 171 ± 115 days were catheterized for BPVP between October 1986 and December 2016. BPVP was performed in 86 infants with a balloon catheter size 127±16% from the annulus dimension. The effectiveness (gradient right ventricle (RV) – pulmonary artery (PA) ≤ 35 mm Hg) and safety (lack of life–threatening complications, emergency surgery or death) of the procedure were assessed. Results: Transvalvular pressure gradient decreased from 82 ± 29 mm Hg to 29 ± 24 mm Hg (р = 0,0001) and RV pressure - from 101 ± 28 mm Hg to 52 ± 24 mm Hg (p = 0,0001). BPVP was effective in 61 infants (70,9%), mainly in those with lower initial gradient, RV pressure and less signifi cant infundibular obstruction. There were no children with hemodynamically signifi cant postprocedural pulmonary insuffi ciency. Complications were observed in 16 of the infants catheterized for BPVP (17,6%). In 5 of the children (5,5%), minor (transient) complications arose and were overcome by conservative means. Major complications were observed in 11 infants (12,1%): rhythm and conductive disorders (critical bradycardia, supraventricular/ventricular tachycardia, complete atrioventricular block) in 6 children, hemopericardium or severe right ventricular outfl ow tract rupture – in 5. The evolution was favorable after intensive treatment in 6 children with major complications, two children were sent for emergency surgery (2,2%) and death occurred in 3 of the children associated with the procedure (3,3%). The procedure was interrupted and BPVP was not performed in fi ve of the catheterized children (5,5%), all with severely dysplastic valve. Conclusion: BPVP is effective and comparatively safe procedure under the age of 1 year. Newborns, children with severely dysplastic valve and suprasystemic RV pressure are the most at-risk.

Early Outcome of Balloon Pulmonary Valvuloplasty for Pulmonary Valve Stenosis in Adolescents and Adults: Experience at A Tertiary Care Cardiac Institute

Background: Balloon pulmonary valvuloplasty is the procedure of choice for pulmonary valve stenosis in any age group. The data on efficacy of the procedure in adolescent and adult population is scanty in Pakistan. Objective: To determine the early outcome of balloon pulmonary valvuloplasty in adolescents and adults. Study Design: Descriptive retrospective case series. Settings: Pediatric cardiology department of Faisalabad Institute of Cardiology, Faisalabad-Pakistan. Duration: Three years and Six months from 01-01-2016 to 30-06-2019. Methodology: All consecutive patients of age 10 years or above who underwent percutaneous balloon pulmonary valvuloplasty in the study period were enrolled. The outcome parameters including successfulness and complications of procedure recorded.&nbsp; The procedure was labelled successful if peak to peak pressure gradient across pulmonary valve reduced to less than 50% or more of the pre procedure value, suboptimal if gradient reduced by 25-49% and unsuccessful if gradient reduced by less than 25%. Results: A total of 41 patients underwent balloon pulmonary valvuloplasty procedure. Mean age was 22.2± 10.5 years while female to male ratio was 1.05:1. Majority of the patients (n=26, 63.4%) were symptomatic and dyspnea on exertion was the dominant symptom (n=16, 39%). Majority of the patients had doming pulmonary valve (n=37, 90.2%). Mean balloon to pulmonary valve annulus ratio was 1.24 ± 0.1 (range 1.1-1.43). The procedure was successful in all patients (n=41, 100%) as the mean peak to peak pressure gradient across pulmonary valve decreased from 121.9 ± 53.2 mmHg (pre valvuloplasty) to 30.1±11.9 mmHg (post valvuloplasty) irrespective of doming or dysplastic valve. There were no major complications. Transient self-limiting vaso-vagal syncope was noted in 7.3% of patients (n=3). On post procedure echocardiography there was not a single case of moderate or severe pulmonary valve regurgitation (PR) while mild PR was observed in 48.8% patients (n=20). Conclusion: Balloon pulmonary valvuloplasty in adolescent and adult patients is a very safe procedure with high success but very low complications rate.

Myocardial ischaemia and valve insufficiency caused by a dysplastic aortic valve cusp: a previously unreported unique morphologic anomaly - CORRIGENDUM.

Isolated aortic regurgitation and myocardial infarction are a rare congenital defect among neonatal patients. We present a case of a neonate with an unusual aortic valve morphology causing both regurgitation and obstruction of the left coronary artery ostium. Despite both non-invasive and invasive imaging modalities, accurate diagnosis of the valve morphology was only determined by direct visualisation at the time of surgical repair. To the knowledge of authors, this particular aortic valve morphology in neonatal population has not been previously reported in the literature.