Subaortic Ventricular Septal Defect Research Articles

Ruptured sinus of Valsalva aneurysm coexisted with congenital ventricular septal defect: a case series

BackgroundRuptured sinus of Valsalva aneurysm (RSoVA) is an uncommon cardiac anomaly that may occasionally coexist with additional congenital heart disease (CHD). The presence of such congenital cardiac anomalies, frequently involving a ventricular septal defect (VSD), is of significant clinical importance and warrants vigilant detection during echocardiographic assessments to prevent oversight.Case presentationThree cases of RSoVA accompanied by VSD are presented in which all patients manifested symptoms of shortness of breath (SOB). In the first patient, right and left heart catheterization was undertaken; however, the images failed to reveal any evidence of VSD flow due to the occlusion of a small VSD by the prolapsed right coronary cusp (RCC). Prior to surgical intervention, multimodal imaging was conducted, revealing the presence of RSoVA extending into the right ventricle (RV) along with the VSD. The second patient had a prior childhood diagnosis of VSD but had not undergone further medical intervention. Transoesophageal echocardiography (TEE) was subsequently performed, identifying the presence of RSoVA, a small VSD, and valvular heart disease. The third patient presented with heart failure, exacerbated during her second pregnancy. TEE was also administered to this patient, revealing the presence of RSoVA accompanied by a small subaortic VSD with a left-to-right shunt. All three patients were scheduled for surgical repair of the ruptured sinus of Valsalva and closure of the VSD.ConclusionsThe coexistence of RSoVA and CHD, typically VSD, is frequently observed in patients experiencing symptoms of SOB. Recognizing the presence of CHD in individuals with RSoVA is of paramount importance, as it can significantly influence their medical management and treatment strategies.

Brain Abscess Drainage in a Case of Tetralogy of Fallot with Pulmonary Atresia with Major Aortopulmonary Collateral Arteries Under Scalp Block

AbstractTetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. There are a few reports of uncorrected TOF patients surviving into adulthood requiring noncardiac surgery. They are commonly susceptible to developing brain abscesses due to paradoxical embolism and lack of pulmonary phagocytic clearance. A 32-year-old man, a known patient of TOF with pulmonary atresia and major aortopulmonary collateral arteries, presented with left side weakness and seizures. He was drowsy with a Glasgow Coma Scale (GCS) of 13/15, heart rate of 72/min, oxygen saturation of 78% with 6 L/min oxygen via face mask, and blood pressure of 90/60 mm Hg with noradrenaline at 0.5 mcg/kg/min. He had central cyanosis, clubbing, and icterus. The left upper and lower limb power was 2/5, whereas it was 5/5 for the right. Cardiovascular examination revealed a grade 3/6 continuous murmur at the base of the heart. No pulmonary abnormality was noted on auscultation. Echocardiography showed large subaortic ventricular septal defect (VSD) with overriding of the aorta, pulmonary atresia, right-sided aortic arch, and ejection fraction of 62%. Magnetic resonance imaging (MRI) of the brain revealed features suggestive of brain abscess. Brain abscess drainage was performed under scalp block with sedation to avoid major hemodynamic fluctuations. The procedure was uneventful, and the patient's power on the left side improved postprocedure. Scalp block with sedation is a suitable alternative to general anesthesia for drainage of brain abscess in TOF patients.

Characterization of Patients with Noonan Syndrome-Type Rasopathies by PTPN11 Variant

Introduction: RASopathies are a set of phenotypically overlapping syndromes caused by mutations in genes that play a role in the RAS/MAPK pathway involved in development through growth factors. The most common is Noonan Syndrome (NS) which is an autosomal dominant genetic disorder, of low prevalence and which in 50% of cases is associated with variants in the PTPN11 gene. Clinical manifestations are short stature, dysmorphic facial features, congenital heart defects, most commonly pulmonary valve stenosis, typical chest, and cryptorchidism. Results: We describe 4 patients with RASopathy Noonan syndrome due to alteration in the PTPN11 gene: 3 males, and 1 female, with an average gestational age of 37.6 weeks, 2.9 kg of weight, and 45.5 cm of height at birth. 100% had: palpebral ptosis, winged neck, pectum carinatum, and short stature, 75% had heart diseases such as subaortic stenosis and ventricular septal defect, and 33% had hypoacusis and altered genitalia. The genetic variants found in the PTPN 11 gene, all heterozygous were: in the sporadic males: Exon 7 c.836 A>G. pTYR:279cys, and c.417G>C (p. Glu139Asp) and p.Asn 308 Ser , c..923A>G heterozygosis. The female with a variant in c.417G>C (p. Glu139Asp) whose mother has SN. Analysis: We found the PTPN11 gene variant in all our patients with NS, 75% being sporadic and 25% familial. Although the diagnosis of Noonan syndrome is clinical, this variant according to the literature is found in 50% of patients, in almost 60% of familial cases, and in almost 40% sporadic. There is a phenotype-genotype correlation in these patients and it is suggested that they should be monitored for predisposition to malignancy. Conclusions: It is essential to typify the clinical and genetic alteration in patients with RASopathies so that physicians involved in the care of these patients are familiar with the diagnosis, genetic variant, manifestations, and clinical follow-up, especially because of their predisposition to malignancy

Undiagnosed Case of Ventricular Septal Syndrome with Eisenmenger Syndrome and Epistaxis Presentation

Eisenmenger syndrome is a rare irreversible cardiac condition as a consequence of increased Pulmonary Arterial Hypertension (PAH). This causes a reversal of flow and cyanosis. This pulmonary arterial condition developed because of unrestricted pulmonary flow. It is seen mostly in unrepaired acyanotic congenital cardiac defects with an initial left to right shunt. The common conditions are large Ventricular Septal Defect (VSD), Patent Ductus Arteriosus (PDA), Atrioventricular Septal Defect (AVSD), and atrial septal defect. The patient presented with cyanosis and worsening exertional dyspnoea due to the reversal of the shunt. It can be prevented with early diagnosis and by successfully repairing the defect. The mode of diagnosis is a good physical examination and two-dimensional (2D) echocardiography. This case report is about an 11-year-old female patient who presented with a complaint of exertional dyspnoea for five years. She had very low oxygen saturation on room air when presented in the paediatric Outpatient Department (OPD). She went for 2D echocardiography as her physical examination and laboratory investigation were not supporting any diagnosis. Her echocardiography (echo) showed large sub-aortic VSD with Eisenmenger complex and prescribed tablet Sildenafil. On the next day of admission, her dyspnoea improved, and maintained saturation without oxygen of 96-97%. She was successfully discharged and called for regular follow-up.

1116 DOUBLE-CHAMBERED RIGHT VENTRICLE AND VENTRICULAR SEPTAL DEFECT IN AN ELDERLY WOMAN: A RARE CASE.

Abstract Introduction Double-chambered right ventricle (DCRV) is a rare congenital heart defect with right ventricular outflow tract (RVOT) obstruction. The right ventricle (RV) is divided into anatomically proximal high-pressure and distal low-pressure chambers by abnormal muscle bundle. DCRV is frequently associated with others congenital heart defects, particularly ventricular septal defects (VSDs). Although its typically presents during childhood and adolescence, it can also present in adulthood. Case Presentation An 84-years-old woman was admitted to our hospital, in emergency department, with a 30-days history of worsening dyspnea and exercise intolerance. She was Ukrainian and did not speak Italian or English. The patient past medical history was unknow except for untreated bilateral glaucoma complicated by blindness. Vital signs were notable for tachycardia, tachypnea (respiratory rate, 28/minute), blood pressure of 118/76 mm Hg, SpO2 of 91%. Physical exam revealed left-sided parasternal systolic murmurs, abolished vesicular murmur at lung bases and jugular vein distension with hepatojugular reflux. The ECG showed atrial fibrillation. Chest X-ray showed moderate cardiomegaly, bilateral pleural effusions, and pulmonary congestion. Transthoracic echocardiography (TTE) was performed and revealed a normal-sized left ventricle with mildly reduced left ventricle ejection fraction (EF 48%), left atrial enlargement, biventricular hypertrophy with asymmetrical interventricular septal hypertrophy. Also, we found massive right atrium and enlarged right ventricle with reduced longitudinal contractility (TAPSE of 13 mm and tricuspid annular tissue Doppler S’ velocity = 7.0 cm/sec). Color flow Doppler in parasternal short-axis view revealed a turbulent systolic flow into the right ventricle. Continuous-wave spectral Doppler analysis showed a peak velocity of 5.6 m/ sec corresponding to a peak gradient of 120 mmHg. Real time 3D-TTE confirmed the of mid-ventricular obstruction due to abnormal trabecular tissue. Therapy including diuretics, beta-blockers and anticoagulants was started. Subsequently, a transesophageal echocardiography (TOE) confirmed the presence of an anomalous mid-ventricular muscle bundle and revealed an associated small sub-aortic ventricular septal defect (VSD) leading to the diagnosis of acute RV failure due to double-chambered RV with VSD and atrial fibrillation. Due to the high risk of complications, patient was considered not amenable for surgery. She was discharged on medical therapy. Conclusions We report a rare case of DCRV and VSD diagnosed in an elderly patient. Due to its rarity, DCRV continues to be misdiagnosed, especially in adulthood. Three-dimensional echocardiography and TOE were most useful tool to define diagnosis and pathophysiology in such an elderly and non-compliant patient.

Medium-term outcomes of a modified technique for RSOV-VSD subset.

Rupture of sinus of Valsalva (RSOV) aneurysm to right ventricular outflow tract or main pulmonary artery is commonly associated with subaortic ventricular septal defect (VSD). A standard surgical approach described is double patch closure. We have adopted the principle of transaortic direct closure of VSD with prosthetic patch closure of sinus defect; this novel technique is used for past 15years with good long-term results. We believe this technique appropriately addresses the embryo-pathological basis of RSOV-VSD complex.

Anatomically Corrected Malposition of the Great Arteries with Atrioventricular Concordance and Left Juxtaposition of the Atrial Appendages

Anatomically corrected malposition of the great arteries is a rare cardiac malformation. In this condition the great arteries are abnormally related to each other and to the ventricles, but arise from the anatomically correct ventricles. In patients with atrioventricular concordant and the absence of associated anomalies, the circulation is physiologically normal. However, ventricular septal defect and right ventricular outflow tract stenosis are the most common accompanying pathologies that require surgical intervention. Here, we present a 9-day-old female with anatomically corrected malposition of the great arteries with wide atrial septal defect, mild right ventricular outflow tract stenosis, left juxtaposition of the atriums, and wide malalignment subaortic ventricular septal defect that required aortotomy to close the defect.

Aortic arch reconstruction in neonates using an autologous pericardial patch

This video tutorial illustrates the surgical correction of aortic coarctation associated with severe hypoplastic aortic arch and a large subaortic ventricular septal defect using a fresh autologous pericardial patch for arch reconstruction under hypothermic cardiopulmonary bypass and selective cerebral perfusion.

Congenital heart defects in the fetus and embryological classification: Cladistics and phylogeny

Congenital heart defects (CHD) are a common cause of fetal death and termination of pregnancy for fetal anomaly (TPFA). No series with sufficient cohort, based on description of the anatomic phenotype of CHD discovered in fetal period, have been published until now. To phenotype all the fetal cardiac specimens of the M3 C collection, which counts more than 1500 hearts. A complete morphological examination of each specimen according to segmental analysis was performed by two observers (MH, LH). We determined the main CHD according to the 11 categories and 23 subcategories of the clinical and anatomical classification of CHD and we coded the associated lesions with IPCCC codes. These codes were recorded in a database including photographs for each heart. To date, we have analyzed 758 cardiac specimens. Among them, 77 were normal (10.2%). The most frequent groups of CHD were: anomalies of the ventricular outflow tracts (VOT, 34%), functionally univentricular hearts (FUV, 24%) and anomalies of atrioventricular junctions and valves (AAVJV, 15%). As an example of a phylogenetic analysis starting from a specific anomaly, a right aortic arch was most frequent in double outlet right ventricle with subaortic ventricular septal defect (VSD) (39%), tetralogy of Fallot group (24%) and outlet VSD (9%). It was almost absent in other anomalies of VOT and other CHD ( Fig. 1 ). These first results confirm the predominance of the anomalies of the VOT. The high rate of FUV and AAVJV underlines the selection bias related to the high number of TPFA for severe CHD or chromosomal abnormality. This anatomical phenotyping of the collection should allow us to identify rare associations of malformations and could change our current way of grouping some phenotypes together. This could help us, by integrating current embryological knowledge, to elaborate a cladistics analysis of CHD, starting from one part of the phenotype.

Intracardiac Repair in Late Adolescent and Adult Tetralogy of Fallot - Early and Midterm Results from a Tertiary Care Centre.

IntroductionIn developing countries like India, it is common for late presentation of Tetralogy of Fallot (TOF) patients to a hospital as compared to that of developed countries. The objective of this study is to analyze the surgical outcome of TOF patients with age > 15 years.MethodsThis is a retrospective descriptive study of the surgical outcomes of 45 adult patients undergoing correction for TOF. Epidemiology, symptomology, and preoperative evaluation were performed.ResultsMost of the patients were male (33 [73%]). The median age was 21 years. A total of 42 (93.33%) patients had subaortic ventricular septal defect (VSD), while three (6.6%) patients presented with doubly committed VSD. The most common type of right ventricular outflow tract (RVOT) obstruction was combined infundibular and valvular types, accounting for 34 cases (75.5%). Six patients had infundibular RVOT obstruction, while three patients (6.6%) had predominantly valvular pulmonary stenosis. We performed trans-right atrial repair in 33 patients. Right atrium-pulmonary artery approach was used in five patients (11.1%). The most common postoperative complication was right bundle branch block, seen in 14 patients, with a mortality rate of 2% in the early postoperative period. We achieved excellent early and midterm survival results and significant improvement in functions and disease-free quality of life.ConclusionIntracardiac repair in adult TOF can be performed with low mortality, less residual RVOT obstruction, and need for revision of RVOT far less frequent by using the Jhajhria Infundibular Resection Adequacy Assessment technique (JIRAAT) to assess for adequacy of infundibular resection.

C11. Aorto-Pulmonary Window in Tetralogy of Fallot with Absent Pulmonary Valve Syndrome : A Rare Case Report

Abstract Background Aorto-pulmonary window and Tetralogy of Fallot with absent pulmonary valve syndrome (TOF-APVS) are very rare entities. The combination of the two defects in adolescence patient made the diagnosis based on standard imaging modalities challenging. Case Illustration 14-year-old boy was referred from Borneo Hospital with failure to thrive and shortness of breath symptoms. He was underwent multiple modalities procedure and it shows the presences of features of tetralogy of Fallot : right ventricular hypertrophy, sub-aortic ventricular septal defect and pulmonary infundibular stenosis. Pulmonary valve leaflets are not seen with mild dilatation of the main and left pulmonary artery (Absent PV syndrome) and a connection from Pulmonary Artery and Ascending Aorta (Aorta-Pulmonary Window) Discussion TOF-APVS is a relatively rare variant of TOF. Its co-existence with Aorto-Pulmonary Window make this case was very exceptional. There are only a few reported cases diagnosed with TOF-APVS in adult age in the literature as most of them are diagnosed at younger ages. The unique physiology due to the large connection of Ascending aorta and the main pulmonary artery resulting in L-R Shunt. The large connection from Ascending Aorta to Main Pulmonary artery (L-R Shunt) prompt this patient to pulmonary hypertension (before and after surgery) and heart failure, hence initial treatment of ACE-I and sildenafil was very necessary.

C11. Aorto-Pulmonary Window in Tetralogy of Fallot with Absent Pulmonary Valve Syndrome : A Rare Case Report

Abstract Background Aorto-pulmonary window and Tetralogy of Fallot with absent pulmonary valve syndrome (TOF-APVS) are very rare entities. The combination of the two defects in adolescence patient made the diagnosis based on standard imaging modalities challenging. Case Illustration 14-year-old boy was referred from Borneo Hospital with failure to thrive and shortness of breath symptoms. He was underwent multiple modalities procedure and it shows the presences of features of tetralogy of Fallot : right ventricular hypertrophy, sub-aortic ventricular septal defect and pulmonary infundibular stenosis. Pulmonary valve leaflets are not seen with mild dilatation of the main and left pulmonary artery (Absent PV syndrome) and a connection from Pulmonary Artery and Ascending Aorta (Aorta-Pulmonary Window) Discussion TOF-APVS is a relatively rare variant of TOF. Its co-existence with Aorto-Pulmonary Window make this case was very exceptional. There are only a few reported cases diagnosed with TOF-APVS in adult age in the literature as most of them are diagnosed at younger ages. The unique physiology due to the large connection of Ascending aorta and the main pulmonary artery resulting in L-R Shunt. The large connection from Ascending Aorta to Main Pulmonary artery (L-R Shunt) prompt this patient to pulmonary hypertension (before and after surgery) and heart failure, hence initial treatment of ACE-I and sildenafil was very necessary.

Aortic valve repair in patients with ventricular septal defect or subaortic membrane

Background: The delay in the surgical intervention of subaortic ventricular septal defect (VSD) and subaortic membrane leads to significant damage in the aortic valve, and multiple surgical interventions may be needed. We aimed to describe the pathology of the aortic valve in patients with subaortic membrane or VSD and different surgical strategies to manage the aortic regurgitation in those patients.
 Methods: The study included patients who had surgery for subaortic membrane or VSD from 2017 to 2021. We reviewed strategies and surgical techniques to deal with aortic regurgitation in patients with subaortic membrane or VSD and the short and midterm outcomes.
 Results: Twelve cases were included in the study; 5 cases had subaortic membrane, and 7 cases had subaortic VSD. The age ranged from 1.5 to 10 years old. Postoperative follow-up ranged from 1 to 3.5 years. We performed sub-commissural stitches and peeling of the leaflets to correct residual regurgitation. Four patients with subaortic membrane achieved satisfactory outcomes, and one patient had severe aortic regurgitation. Two patients with VSD had progression of the aortic regurgitation. Patients with failed repair had severe prolapse and thickening of the valve.
 Conclusion: Severe prolapse and dense thickening of the valve were difficult pathologies to repair. The sub-commissural stitches could be mandatory to achieve good midterm results. Complete freeing and peeling of the leaflets till restoring the natural appearance is crucial.

A rare autopsy case of pentalogy of Cantrell with tetralogy of Fallot and olfactory bulb agenesis

Abstract Introduction/Objective Pentalogy of Cantrell is an uncommon congenital disorder characterized by sternal, diaphragmatic, pericardial, intracardiac and supraumbilical abdominal or chest wall defects. It is usually associated with other abnormalities and thus poses a therapeutic challenge, with a high mortality rate despite early diagnosis. Methods/Case Report This is an autopsy case of a 1 day old, former 37-week-old male infant with a prenatal diagnosis of incomplete pentalogy of Cantrell including omphalocele, ectopia cordis, pleural effusions, cardiac anomalies and polyhydramnios who was delivered via elective cesarean section. Maternal history included tobacco use during pregnancy, multiple psychiatric disorders, and a family history of an unbalanced translocation. The infant required intubation, ventilation, and chest tube insertion at birth due to respiratory distress. He also developed pneumoperitoneum which had to be decompressed. Within 24 hours the infant passed, despite advanced care. On autopsy, external examination showed central and peripheral cyanosis and a large omphalocele containing the heart, parts of the liver and intestines. Initial internal examination revealed a hypoplastic left lung, anterior diaphragmatic defect and absence of the pericardium. Organ dissection post-fixation showed an overriding aorta, pulmonic stenosis, subaortic valve ventricular septal defect and right ventricular hypertrophy, all components of tetralogy of Fallot. On brain examination, the olfactory groove and bulb were both absent. Examination of the placenta and 3 vessel cord revealed no abnormalities. Chromosomal microarray analysis on cord blood was normal. Conclusion The spectrum of defects seen in this disease complex has been postulated to be due to failure of differentiation or migration of mesenchymal structures during embryonic development but ultimately, this entity is not well understood. Identifying various disease associations through autopsies can help to establish possible etiologies, and options for therapeutic interventions or screening.

Computed tomography in tetralogy of Fallot: pre- and postoperative imaging evaluation.

Tetralogy of Fallot (TOF) is the most common cause of cyanotic congenital heart disease (CHD) and the most frequent complex CHD encountered in adulthood. Although children with TOF share four characteristic features (subaortic ventricular septal defect, overriding aorta, right ventricular hypertrophy, pulmonary stenosis), the clinical spectrum and course are in fact greatly heterogeneous. Echocardiography remains the mainstay for diagnosis, presurgical planning and postoperative follow-up. However, with continued technological advances, CT now plays an increasing role in TOF evaluation and management, helping to minimize routine invasive catheter angiography. Preoperatively, CT is uniquely suited to assess associated pulmonary arterial, aortic and coronary anomalies as well as extra-cardiovascular structures and is particularly helpful for delineating complex anatomy in the TOF subtypes of absent pulmonary valve and pulmonary atresia with major aortopulmonary collaterals. Postoperatively, CT is useful for identifying surgical complications and for long-term monitoring including volumetry quantification, especially in children for whom MRI is contraindicated or limited by implanted devices such as pacemakers and stents. In this article, we review key clinical features and considerations in the pre- and postoperative TOF patient and the burgeoning role of CT for facilitating accurate diagnosis and personalized intervention.

Outflow Ventricular Septal Defect With Aortic Regurgitation: Optimal Timing of Surgery?

BackgroundIdeal time of surgery still remains controversial in outflow ventricular septal defect (VSD) with aortic regurgitation (AR). We aimed to identify the prevalence and predictors of postoperative AR progression. MethodsA total of 154 patients with outflow VSD and AR who underwent VSD surgery between 2006 and 2012 were studied retrospectively. ResultsEighty patients with subpulmonic VSD and 74 with subaortic VSD were followed up for mean 6.32 ± 2.27 years (range, 3–12 years). Of these, 100 had trivial to mild (group A) and 54 had moderate to severe preoperative AR (group B). At follow-up, there was no significant worsening of mean residual AR grade in group A (P = .16) and subpulmonic VSD of group B (P = .083). However, AR grade worsened significantly in subaortic VSD (1.85 ± 0.87 vs 2.21 ± 1.08, P = .005) of group B. Only 2 (both had subaortic VSD) patients of group A developed moderate AR and none required aortic valve replacement (AVR), while 23 (42.60%) of group B patients developed moderate or severe AR and 7 (30.4%) of them required AVR. Moreover, all who needed AVR had subaortic VSD and had undergone valvuloplasty during VSD closure. The 10 years freedom from moderate or severe AR was significantly lower in group B than group A in both VSDs (subaortic VSD 42.5% ± 10.7% vs 89.3% ± 8.1%, P < .01; subpulmonic VSD 66.7% ± 10.3% vs 100%, P< .01). On multiple regression analysis, postoperative residual AR was the only predictor of AR progression (standardized coefficient, 0.48; P < .001) at follow-up. ConclusionsMild preoperative AR rarely progressed after VSD repair. However, worsening of AR could not be prevented effectively, even with valvuloplasty, after the development of moderate or severe AR. Mild or more postoperative residual AR requires close follow-up, especially in subaortic VSD.

Fetal double outlet right ventricle without heterotaxy syndrome: Diagnostic spectrum, associated extracardiac pathology and clinical outcomes.

To document the clinical spectrum and outcomes of fetal double outlet right ventricle (DORV) without heterotaxy in a recent diagnostic era. Prenatal cases of DORV consecutively diagnosed from 2007 to 2018 were retrospectively identified. Clinical records, including details regarding genetic testing and pre and postnatal imaging were reviewed. DORV was diagnosed in 99 fetuses without heterotaxy. The most common anatomic subtype was subaortic ventricular septal defect (VSD) and normally related great arteries with (n=45, 45%) or without (n=13, 13%) pulmonary stenosis. The remainder had a subpulmonic VSD with transposed great arteries (n=15, 15%), atrioventricular valve atresia (n=24, 24%), or remote VSD (n=2, 2%). A genetic diagnosis was found in 32 (34%) of 93 tested. Major extracardiac anomalies were found in 40 (40%), including 17/24 (71%) with and 22/69 (32%) without an abnormal karyotype, with VACTERL association in 9. Genetic and/or extracardiac pathology was identified in 37/58 (64%) with a subaortic VSD, 5/15 (33%) with a subpulmonic VSD, 9/24 (38%) of those with AV valve atresia and 2/2 (100%) with a remote VSD. A genetic abnormality was a significant predictor of fetal demise (9/37 vs 1/62 p<0.01) or pregnancy termination (12/35 vs 9/64 p=0.03). Fetal DORV is associated with a high rate of genetic abnormalities and extracardiac pathology. The presence of genetic abnormalities impacts prenatal outcomes and parental decision-making.

Transcatheter Aortic Valve Implantation in a Double Outlet Right Ventricle with Eisenmenger Syndrome–An Alternative to Heart–Lung Transplantation

A 41-year-old gentleman with Eisenmenger syndrome in the setting of unrepaired double outlet right ventricle (subaortic ventricular septal defect (VSD) type) presents with heart failure (NYHA IV) relating to severe aortic stenosis and new left ventricular dysfunction. Transthoracic echocardiography demonstrated a severely stenosed bicuspid aortic valve with severe global biventricular dysfunction and an unrestricted VSD. Catheterisation demonstrated suprasystemic pressures (PA, 123/62 [mean 70] mmHg, PVR, 16 Wood units) and an invasive peak-to-peak aortic gradient of 43mmHg.

Prenatal diagnosis of absent pulmonary valve syndrome

An 18-year-old woman, with a congenital subaortic interventricular communication, was diagnosed with a 17-week gestation. On the first echography, at that gestational age, a subaortic ventricular septal defect (VSD) with...

Absent Pulmonary Valve Syndrome - Prenatal Diagnosis and Postnatal Correlation with a Review of Literature

Absent Pulmonary valve syndrome (APVS) or congenital absence of pulmonary valve is a rare conotruncal anomaly in which the pulmonary valve is absent, dysplastic or rudimentary. It can be isolated or associated with tetralogy of Fallot and has a favourable to guarded postnatal outcome according to the associations. In this case report, we discuss an interesting case of APVS with postnatal correlation. Methods: Detailed USG including fetal echocardiography was performed on an ultrasound machine using appropriate presets. The abdominal and cardiac situs were normal. Segmental evaluation of the fetal heart along with color and spectral doppler was performed. Results: The fetus had the typical features of APVS, with a dilated pulmonary artery and branches, a subaortic ventricular septal defect, overriding of the aorta, and agenesis of ductus arteriosus. There was typical to and fro flow noted on color and spectral Doppler imaging representing forward stenotic and retrograde regurgitant flow. Postnatal Echocardiogram confirmed our antenatal findings. Though the baby underwent surgical correction, he succumbed due to the effects of multiorgan dysfunction and the underlying chromosomal defect. Conclusions: A dedicated fetal echocardiography around 22 weeks can accurately diagnose the condition due to its typical features of dilated main and branched pulmonary arteries, absent /dysplastic pulmonary valves with color and spectral doppler revealing features of stenosis and insufficiency. However the outcome of fetuses in APVS with additional anomalies is guarded due to the heart defect itself, respiratory complications and associated chromosomal abnormalities.