Perimembranous Ventricular Septal Defect Research Articles

Incidence, Risk Factors, and Outcomes of Conduction Disturbances After Percutaneous Closure of Perimembranous Ventricular Septal Defects in Children and Adolescents: A Mid-term Follow-up

Background: Conduction disturbance (CD) is a major complication of percutaneous closure of the perimembranous ventricular septal defect (pmVSD). Objectives: This study aimed to investigate the incidence, predisposing factors, and outcomes of sustained CD following percutaneous closure of these defects. Methods: All patients whose pmVSD was closed successfully with percutaneous methods within April 2016 to April 2021 were enrolled in this cohort study. The defects’ size, septal aneurysms, and distance to the aortic valve annulus were determined with transthoracic echocardiography and catheterization. Continuous heart monitoring was performed during the procedures and one hour after, and standard 12-lead electrocardiograms were obtained regularly to determine any CD and arrhythmias. Results: A total of 260 patients who had successful pmVSD closure were enrolled in the study. In this study, 135 (52%) and 125 (48%) patients were male and female, respectively. The mean age of the patients was 75.66 ± 68.89 months. The patients’ median follow-up was 36 months (range: 9-210 months). Thirty-one patients (11.9%) developed sustained CD, and 25 cases recovered to normal conduction. Additionally, 7 patients (2.7%) had several permanent conduction abnormalities, including four right bundle branch blocks, two left bundle branch blocks, and one bi-fascicular block. No one had a permanent atrioventricular block. Closure of non-aneurysmal defects and more prolonged procedures were independent risk factors of CD. Using Amplatzer duct occluder type II was associated with less incidence of conduction abnormalities. Conclusions: The incidence of sustained CD after transcatheter closure was relatively high; however, most cases recovered to normal conduction. The use of softer devices and the placement of devices into the septal aneurysms might lower the risk of CD.

Electrocardiographic characteristics of newborns with ventricular septal defects: a Copenhagen Baby Heart Study

Ventricular septal defects (VSD) represent the most common congenital heart defect in newborns. We assessed the electrocardiographic characteristics of newborns with VSDs in a general population sample. The Copenhagen Baby Heart Study is a prospective population–based cohort study offering cardiac evaluation of newborns. Echocardiograms and electrocardiograms were obtained within 30 days after birth and systematically analysed. A VSD was identified in 530 newborns (mean age 11 ± 7 days, 42% boys). Newborns with VSDs had a more left-shifted QRS axis (116 ± 34 vs. 120 ± 3°, p = 0.02), and a higher S-wave amplitude in V1 (721 ± 584 vs. 636 ± 549 µV, p = 0.001) than controls. The largest differences were found in newborns with large or perimembraneous VSDs with a higher frequency of left axis deviation, higher S-wave amplitudes in V1, and higher R- and S-wave amplitudes in V6 compared with controls. R-waves in V1 and V6 were significantly associated to left ventricular mass, whereas S-waves in V1 and V6 were dependent on left ventricular end-diastolic diameter on echocardiography. Conclusion: Newborns with VSDs showed significant differences in QRS axis, and R- and S-wave precordial amplitudes compared to matched controls. Perimembranous and large VSDs had the greatest effect on the neonatal ECG.What is Known:• Ventricular septal defects in newborns are prevalent and may affect cardiac function and structure.What is New:• The Copenhagen Baby Heart Study is the largest study including a cohort of unselected newborns undergoing postnatal cardiac examination.• We found that newborns with VSD showed significant electrocardiographic differences depending on size and type of VSD compared with healthy newborns.

Minimally invasive surgical closure for ventricular septal defects through a horizontal right axillary minithoracotomy: early results at one center

Objectives: To investigate the early outcomes and cosmetic results of a horizontal right axillary minithoracotomy for closure of ventricular septal defects (VSDs) at Hanoi Heart Hospital.[1]
 Methods: a descriptive cross-sectional study. We retrospectively reviewed 119 children who underwent horizontal right axillary minithoracotomy for ventricular septal defects closure at Hanoi Heart Hospital from January 2022 to December 2022.
 Results: the average weight was 11.1 ± 8.2 kg, from 2.6 to 51.0 kg. The number of children below 6 months old accounted for 34.5% (41 patients). The rates of perimembranous VSD, infundibular VSD, inlet VSD, and muscular VSD were 68.1%, 27.7%, 3.4%, and 0.8%, respectively. The aortic cross-clamping time was 53.1 ± 23.5 minutes, the duration of cardiopulmonary bypass was 77.9 ± 29.7 minutes. The length of postoperative hospital stay was 7.4 ± 2.3 days. Postoperative residual shunt accounted for 5.9%, the rate of severe complications and hospital mortality were 0%.
 Conclusion: ventricular septal defects repair through a horizontal right axillary minithoracotomy at Hanoi Heart Hospital provided good early outcomes with satisfactory aesthetic results.

Transcatheter closure of perimembranous ventricular septal defects by coils le

Background: Ventricular septal defect (VSD) is the most frequently occurring congenital cardiac disease, accounts nearly 20-30% of all cases.
 Surgery still the corrective therapy with high success and low complication but having some problems: cardiopulmonary bypass, anesthesia, ICU, sternalitis, chest scar...
 Recently many progress in cardiac intervention applied to treat congenital heart disease especially percutaneous VSD closure. currently patients with VSD have other choice to cure safely, effectively and less complication.[1]
 Objectives: To evaluate the long-term (more than 3 years follow-up) results from transcatheter closure of perimembranous VSD by Coil Le.
 Methods: This is the descriptive clinical trial and follow-up.
 Result: 27 patients selected by echocardiography, 25 patients were closed successfully (92.6% success rate) with Coil Le. Complete occlusion (no shunt) is 96.0% and no late AVB at least 3 years follow-up.
 Conclusions: Transcatheter closure of perimembranous VSD by Coil Le is effective with high occlusion rate, no significant complications and is suitable for selected PMVSD.

Transpercutaneous closure of perimembranous ventricular septal defects by patent ductus occlusion (pdoi)

Background: Ventricular septal defect (VSD) is the most frequently occurring congenital cardiac disease, accounts nearly 20-30% of all cases.
 Surgery still the corrective therapy with high success and low complication but having some problems: cardiopulmonary bypass, anesthesia, ICU, sternalitis, chest scar...
 Recently many progress in cardiac intervention applied to treat congenital heart disease especially transpercutaneous VSD closure. currently patients with VSD have other choice to cure safely, effectively and less complication.[1]
 Objectives: To evaluate the long-term rusults from transpercutaneous closure of perimembranous VSD by PDOI.
 Methods: This is the descriptive clinical trial and follow-up.
 Result: 112 patients selected by echocardiography, 107 patients were closed successfully (95.5% success rate), mean time 41 months (37-60) follow-up: occlusive rate 99.1%, no significant complication (no late AVB, worsened TV regurgitation, aortic valve).
 Conclusions: Transpercutaneous closure of perimembranous VSD by PDOI is effective and safe, is suitable for selected PMVSD.

Transthoracic device closure of perimembranous ventricular septal defect via a small left intercostal incision in children.

In children with perimembranous ventricular septal defect, surgical repair requires sternotomy and leaves unsightly scars, which can trigger long-term physical and psychological distress. However, transcatheter device closure is limited by vascular diameter, radiographic exposure, and expensive DSA equipment. We used an ultra-small left intercostal incision for transthoracic device closure to avoid the above problems and investigated its safety and feasibility by comparing it with surgical repair. This study enrolled 358 children with perimembranous ventricular septal defect. Among them, 152 patients were treated by surgical closure and 206 by transthoracic device closure via an ultra-small left intercostal incision. Perioperative clinical data and postoperative follow-up results were collected and analyzed retrospectively. The success rate was similar (P = 0.265) in the two groups: 203/206 patients in the device group vs. 152/152 patients in the surgical group. The operative time, intensive care unit time, mechanical ventilation time, and postoperative hospital stay were significantly shorter in the device group than in the surgical group. Although the incision length of the device group (1.1 ± 0.2 cm) was significant shorter (P < 0.001) than that of the surgical group (6.7 ± 1.5 cm), there was no difference in hospitalization costs between the two groups (P = 0.099). Except for small residual shunt (16/206 vs. 3/152, P = 0.017), the incidence of complications in the device group was lower or equal to that in the surgical group, and all small residual shunt disappeared during follow-up. There was no thoracic deformity in the device group, compared with 11 cases in the surgery group during follow-up (P < 0.001). Transthoracic device closure via an ultra-small left intercostal incision under transesophageal echocardiography guidance is safe and feasible. With appropriate indications, it can be a suitable alternative to surgical closure for treating perimembranous ventricular septal defect in children.

Retracted: The Long-Term Change of Arrhythmias after Transcatheter Closure of Perimembranous Ventricular Septal Defects.

[This retracts the article DOI: 10.1155/2021/1625915.].

Long-term outcomes of percutaneous closure of ventricular septal defects in children using different devices: A single centre experience from Egypt

BackgroundThe feasibility of percutaneous closure ventricular septal defects (VSD) in children has been previously proven. However, data on long-term outcomes are limited. We aim to evaluate the long-term outcome of our experience with percutaneous closure of VSD using various occluders.MethodsRetrospective institutional analysis of children who underwent transcatheter closure of perimembranous and muscular VSDs between September 2012 and February 2020. Patient demographics, procedural, and long-term follow-up data were comprehensively analyzed. Patients who lost to follow-up within two years post-procedure were excluded.ResultsWe identified 75 patients (54.7% males) with a median of 66 months (IQR, 46–96). The closure success rate at one year was 95.7%. Complete heart block was detected in two patients early post-procedure and resolved with steroids. The VSDs were perimembranous (52%), muscular (33.33%), and residual (14.67%). Implanted devices were Pfm Nit-Occlud LeˆVSD Coil (42.7%), HyperionTM VSD Muscular Occluder (28%), Amplatzer VSD muscular occluder (10.7%), Amplatzer Duct Occluder (14.7%), Occlutech Muscular VSD Occluder (2.7%), and Amplatzer Duct Occluder II (1.3%). No new arrhythmia or valve regurgitation was detected after two years post-procedure. Persisted complications on long-term follow-up included: residual shunting in 3(4%), mild tricuspid regurgitation in 2(2.7%), and aortic regurgitation in 2(2.7%), with one immediate post-catheterization mild aortic regurgitation worsened during follow-up, requiring surgical repair of VSD three years after device implantation. No deaths were reported.ConclusionLong-term outcomes of pediatric transcatheter VSD closure using different devices are satisfactory. Post-procedural adverse events are limited, but long-term surveillance is necessary to monitor their progression.

Update on Transcatheter Device Closure of Congenital Septal Defects.

The goal of this paper is to review currently available devices for closure of atrial septal defects (ASDs) and ventricular septal defects (VSDs). Favorable results from the ASSURED trial resulted in FDA approval for the most recently developed device for transcatheter ASD closure in the United States. Further studies are required to assist in the development or approval of safe devices for transcatheter perimembranous VSD closure in pediatric patients. Device closure is the less invasive and preferred management option for many ASDs, with multiple studies demonstrating lower complication rates, shorter hospital stays, and lower mortality than surgical repair. Complex ASDs that make device closure more difficult include large defects, rim deficiencies, fenestrated defects, multiple defects, and the presence of pulmonary arterial hypertension. Device closure has also become an accepted alternative to surgery for some types of ventricular septal defects VSDs, though challenges and limitations remain. Future innovations including novel devices and techniques are needed to further expand on the types of defects that can be safely closed via transcatheter approach.

Experience of Percutaneous Closure of Ventricular Septal Defects in 140 Patients With Different Duct Occluders in a Tertiary Care Rural Hospital in Central India.

Background Ventricular septal defects (VSDs) are the most common type of septal defects in early infants and are very complicated. This has paved the way for the development of new minimally invasive procedures for interventional cardiologists. This study presents our experience using duct occluders instead of conventional ventricular septal devices in the Department of Cardiology at Acharya Vinoba Bhave Rural Hospital (AVBRH) in central rural India. This study aimed to reviewsuccess and complications and assess safety and its relation to age, sex, size of the VSDs, type of VSD, and types of devices used after transcatheter closure of perimembranous and muscular VSDs using various types of duct occluders. Methodology This retrospective study included patients who underwent percutaneous VSD device closure at the AVBRH between July 2017 and December 2020. We reviewed the patients' medical records to recognize imaging, clinical, and interventional data pre- and post-procedure and at the last follow-up. Results The success rate of VSD closure was 98.6%, one (0.7%) out of 81 females developed a complication due to device dislodgement, and one male aged six years (0.7%) out of 59 developed a post-procedural complication; hence, the total failure rate was 1.4%. The perimembranous type had no complication, and the muscular type had two (14.3%) unsuccessful procedures. Conclusion This study has concluded an impressive percentage of VSD closure, showing no mortality and low morbidity, using a percutaneous approach with different duct occluders. As the type of device used is not correlated with device failure and failure rate, duct occluders will be financially helpful in the closure ofVSD in indicated patients.

Shallow suture at ventricular septal defect may safely reduce right bundle branch block.

To avoid rhythm disturbance, sutures for ventricular septal defect closure have been traditionally placed 2∼5 mm or more away from the edge of the ventricular septal defect. However, the traditional suturing method appears to induce right bundle branch block and tricuspid valve regurgitation after ventricular septal defect closure more than our alternative technique, shallow suturing just at the edge of the ventricular septal defect (shallower bites at the postero-inferior margin). We aimed to verify our clinical experience of perimembranous ventricular septal defect repair. The alternative shallow suturing method has been applied since 2003 at our institution. We retrospectively reviewed the clinical data of 556 isolated perimembranous ventricular septal defect patients who underwent surgical closure from 2000 to 2019. We investigated the postoperative occurrence of right bundle branch block or progression of tricuspid regurgitation and analysed risk factors for right bundle branch block and tricuspid regurgitation. Traditional suturing method (Group T) was used in 374 cases (66.8%), and alternative suturing method (Group A) was used in 186 cases (33.2%). The right bundle branch block occurred more frequently in Group T (39.6%) than in Group A (14.9%). In multivariable logistic regression analysis, Group T and patch material were significant risk factors for late right bundle branch block. More patients with progression of tricuspid regurgitation were found in Group T. Shallow suturing just at the edge of the ventricular septal defect may reduce the rate of right bundle branch block occurrence and tricuspid regurgitation progression without other complications.

Comparative outcomes of two competitive devices for retrograde closure of perimembranous ventricular septal defects.

Retrograde closure of perimembranous ventricular septal defects (pmVSDs) is a well-established procedure. However, interventionists are still looking for the best closure device. We performed a single-center retrospective review of 5-year-experience (from July 2015 to July 2020) with retrograde closure of pmVSDs using AmplatzerTM Duct Occluder II (ADOII) and KONAR-MF™ VSD occluder (MFO). Deficient sub-aortic rim (SAR) (≤2.5 mm for MFO and ≤3 mm for ADOII) was an exclusion criterion in defects with a diameter ratio (right-side exit/left-side entry) > 0.5. We identified 77 patients (57.1% males) with a median age of 4.3 years (IQR, 2.2-8.3) and a median weight of 16 kg (IQR, 11.2-24.5). 44 (57.1%) defects (22.7% with deficient SARs) with a median left-side defect diameter of 8.7 mm (IQR, 5.7-10) were closed with ADOIIs. 33 (42.9%) defects (51.5% with deficient SARs) with a median left-side defect diameter of 10.8 mm (IQR, 8.8-13.5) were closed with MFOs. One 7/5 MFO was removed before release and upsized to a 12/10 MFO. Implantation success rate was 100% with ADOII and 90.9% with MFO devices. Two MFOs were snare-recaptured after embolization, and one 9/7 MFO was snare-retrieved for a new onset of grade-2 aortic regurgitation that persisted afterward. Median follow-up was 3.3 years (IQR, 2.1-4.2) for ADOII and 2.3 years (IQR, 1.7-2.5) for MFO. No permanent heart block or death occurred. Freedom from left ventricular dilation was 94.62% at 36 months of follow-up. Freedom from residual shunt was 90.62% for MFO and 89.61% for ADOII at 24 months of follow-up. One 2.6-year-old patient with baseline mild aortic valve prolapse and trivial aortic regurgitation developed a grade-2 aortic regurgitation after 9/7 MFO implantation. He was treated surgically after two years without device extraction. One new grade-2 asymptomatic tricuspid regurgitation persisted at the last follow-up in the ADOII group. ADOII and MFO are complementary devices for effective retrograde closure of pmVSDs in children, including defects with absent or deficient SAR. ADOII is limited to smaller defects but offers a lower profile and a flexible left-side disk for better maneuverability over the aortic valve during retrograde implantation.

Utility of Screening Fetal Echocardiograms at aSingle Institution Following Normal Obstetric Ultrasound in Fetuses with Down Syndrome.

Fetal echocardiograms (F-echo) are recommended in all pregnancies when the fetus has Down syndrome (DS) even if there was a prior obstetric scan (OB-scan) that was normal. The utility of a screening F-echo in this high-risk population when an OB-scan is normal is unknown. Goal of this study was to evaluate if any diagnosis of a critical congenital heart disease (CHD) was missed in a fetus with DS who had a normal OB-scan. Secondary goal was to determine if any CHD was missed postnatally when an OB-scan was read as normal. Retrospective chart review of all fetuses that had a F-echo whose indication was DS between 1/1/2010 to 6/30/2022 was performed. Fetuses were included if they had an OB-scan that was read as normal and had a F-echo. Postnatal transthoracic echocardiogram (pTTE) was reviewed when available. Critical CHD was defined as CHD requiring catheterization or surgical intervention < 1month of age. One hundred twenty-two F-echo on fetuses with DS were evaluated, of which 48 met inclusion criteria. OB-scan was performed at 20.4 ± 4.5weeks gestational age and F-echo was performed at 24.0 ± 4.6weeks gestational age. No patient with a normal OB-scan had a diagnosis of a critical CHD by F-echo (n = 48, negative predictive value = 100%). Evaluating those patients that had an OB-scan and a pTTE (n = 38), 14 patients were diagnosed with CHD (muscular ventricular septal defect (VSD) n = 5, perimembraneous VSD n = 3, secundum atrial septal defect (ASD) n = 2, primum ASD n = 1, transitional atrioventricular septal defect (AVSD) n = 2, and aortic valve abnormality n = 1; negative predictive value = 63.2%). F-echo correctly diagnosed 4 of the 14 missed OB-scan CHD (perimembraneous VSD n = 2, muscular VSD n = 1, and transitional AVSD n = 1). Critical CHD was not missed with a normal OB-scan in this high-risk population. F-echo also missed the majority of CHD when an OB-scan was read as normal. The cost/benefit of screening F-echo in fetuses with DS should be evaluated if a normal OB-scan has been performed, considering all these patients would have a pTTE performed per guidelines.

P406 LAUBRY–PEZZI SYNDROME: EVERYTHING IS NOT AS IT SEEMS

Abstract Introduction Laubry–Pezzi syndrome is a congenital heart disease characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect (VSD), mostly supracristal, leading to severe aortic regurgitation (AR). It has been reported nearly always in childhood, the Venturi effect is the predominant factor and onset symptoms may be variable. Case Report A 61–years–old male was admitted to our intensive case unit for chest pain radiated to interscapular region and exertional dyspnea. Hemodynamic parameters were normal. At ECG sinus rytm with heart rate 92 bpm and non–specific repolarization abnomalities were reported. Hs troponin I was 276 ng/L, myoglobin 30.2 ng/mL and BNP 325 pg/mL. Transthoracic echocardiography showed a dilated left ventricle (LV EDV 107 mL/m2) with normal ejection fraction (55%), severe AR without aortic root dilation and a suspicious shunt left to right at level of interventricular septum. Therefore, transesophageal echocardiography was performed and confirmed severe AR by probable bicuspid valve and right cusp prolapse, in absence of calcifications and/or vegetations by endocarditis, restrictive perimembranous VSD (maximum diameter 0.6 cm) and ostium secundum ASD with shunt L–R. Right chambers were not dilated and non invasive systolic pulmonary artery pressure was 43 mmHg. Coronary angiography was performed and showed a significant stenosis of distal left anterior descending (LAD) artery and of proximal circumflex artery. Right heart catetherization excluded significant high values of pulmonary pressures (mPAP=18 mmHg), of pulmonary capillary wedge pressure (9 mmHg), with a mild increase of pulmonary vascular resistances (1.16 HRU; nv &amp;lt; 96). Coronary artery bypass grafting (left internal mammary artery on LAD and Y–graft radial artery on obtuse marginal artery), aortic valve replacement with bioprothesis (Inspiris Resilia 23 mm), ASD closure by direct suture and VSD closure with pericardial patch were performed. No post–surgical complications were reported. Interestingly, during the replacement of aortic valve, it resulted tricuspid, confirming the suspicion of Laubry Pezzi syndrome. Conclusions our case was object of great debate because restrictive VSD and severe AR were not previously known, were diagnosed in middle age and until then paucisymptomatic. Laubry–Pezzi syndrome is a very rare disease that may explain controversial cases of severe AR.

Abiotrophia defectiva: A rare and lethal but an easy miss!

Abiotrophia defectiva is a nutritionally deficient streptococci, a rare pathogen of infective endocarditis (IE) in children but is frequently known to cause valvular dysfunction and embolic complications. Only nine cases of A. defectiva endocarditis have been reported so far in world literature. We report a case of A. defectiva endocarditis in a 7-year old girl, with a small peri membranous ventricular septal defect with congenital bilateral sensorineural hearing loss status post left-sided cochlear implantation who presented with prolonged fever. A. defectiva should be considered in children with endocarditis with a subacute course and atypical presentations. Although fastidious in growth it is a virulent bacterium preferentially affecting endovascular structures and is implicated in many culture negative endocarditis. Our case reiterates the possibility of a rare cause of this common disease and the challenges encountered while isolating this nutritionally deficient organism and its treatment.

Fetal echocardiographic features associated with bicuspid aortic valve.

Prenatal diagnosis of bicuspid aortic valve is challenging. Bicuspid aortic valve is often associated with aortic dilation. Fetuses with postnatally confirmed bicuspid aortic valve were gestational age-matched with normal controls. Complex lesions were excluded. Aortic valve and arch measurements by two blinded investigators were compared. We identified 27 cases and 27 controls. Estimated fetal weight percentile was lower in cases than controls. Seven cases had one or more significant lesions including perimembranous ventricular septal defects (n = 2), isolated annular hypoplasia (n = 2), and/or arch hypoplasia/coarctation (n = 4). Fetuses with bicuspid aortic valves had significantly smaller median z-scores of the aortic annulus (-1.60 versus -0.53, p < 0.001) and root (-1.10 versus -0.53, p = 0.040), and larger ratios of root to annulus (1.32 versus 1.21, p < 0.001), sinotubular junction to annulus (1.07 versus 0.99, p < 0.001), ascending aorta to annulus (1.29 versus 1.18, p < 0.001), and transverse aorta to annulus (1.04 versus 0.96, p = 0.023). Leaflets were "doming" in 11 cases (41%) and 0 controls (p = 0.010), "thickened" in 10 cases (37%) and 0 controls (p = 0.002). We noted similar findings in the subgroup without significant additional cardiac defects. The appearance of doming or thickened aortic valve leaflets on fetal echocardiogram is associated with bicuspid aortic valve. Compared to controls, fetuses with bicuspid aortic valve had smaller aortic annulus sizes (possibly related to smaller fetal size) without proportionally smaller aortic measurements, resulting in larger aortic dimension to annulus ratios. Despite inherent challenges of diagnosing bicuspid aortic valve prenatally, these findings may increase suspicion and prompt appropriate postnatal follow-up.

Left Ventricular Outflow Obstruction in D-Transposition of Great Arteries: A Rare Etiology

A 2-day old neonate [gender: male; weight: 3.2 kg; height: 53cm] presented to the authors institution with an arterial oxygen saturation of 74%. The child was receiving 6 cm H2O continuous positive airway pressure therapy [FIO2: 0.5] and was treated with a prostaglandin E1 infusion [10ng/kg/min]. Transthoracic echocardiography revealed situs solitus, levocardia, normal systemic and pulmonary venous drainage and a 6 mm non-restrictive atrial septal defect with a left to right shunt. The atrioventricular connections were concordant. The aorta was arising from the right ventricle with no right ventricular outflow obstruction [Figure 1]. The pulmonary artery was arising from the left ventricle with confluent good size branch pulmonary arteries with posterior deviation of the conal septum [Figure 2]. A large perimembranous (conoventricular type)1 ventricular septal defect with an inlet [6 mm] and outlet [6 mm] extension and an additional tiny apical defect were demonstrated [Figure 3]. A patent ductus arteriosus [2.7 mm] shunting left to right was also present (not shown). A 2-dimensional echocardiography image in the parasternal long axis view displayed an obstruction to the left ventricular outflow tract [white arrow] and a color Doppler blood flow map demonstrated turbulence in the outflow tract [Figure 4A,B]. In the subcostal view with the probe tilted anteriorly, color flow Doppler mapping showed the ventricular septal defect and also the blood flow acceleration across the left ventricular outflow tract [Figure 5, videolip-1]. At the area of turbulence, the jet width was 0.234 cm[Figure 6A]. A continuous wave Doppler interrogation of the area demonstrated a gradient of ≈ 25 mmHg [Figure 6B]. 2-dimensional transthoracic echocardiography interrogation in the subcostal view identified the etiology of the left ventricular outflow tract obstruction [Figure 7, Videoclip-2]. What is the diagnosis? Figure 2Transthoracic echocardiography image showing the relationship between the pulmonary artery and the left ventricle. View Large Image Figure Viewer Download Hi-res image Figure 3Subcostal 4-chamber transthoracic echocardiography image showing the perimembranous ventricular septal defect. View Large Image Figure Viewer Download Hi-res image Figure 4A&B. Parasternal long axis transthoracic echocardiography 2-dimensional image showing the obstruction in the left ventricular outflow tract ‘white arrow’ [A], and turbulence in the outflow tract by a color Doppler blood flow map ‘white arrow’[B]. View Large Image Figure Viewer Download Hi-res image Figure 5Subcostal transthoracic echocardiography image showing color Doppler flow acceleration over the left ventricular outflow tract and a ventricular septal defect. View Large Image Figure Viewer Download Hi-res image Figure 6A&B. Subcostal transthoracic echocardiography image showing the width of the obstruction [A] and the pressure gradient across the obstruction [B]. View Large Image Figure Viewer Download Hi-res image Figure 7A subcostal transthoracic echocardiography view showing the etiology of the left ventricular outflow tract obstruction in systole. View Large Image Figure Viewer Download Hi-res image

Characteristics and outcomes of fetal ventricular aneurysm and diverticulum: combining the use of a new technique, fetal HQ.

Congenital ventricular aneurysms or diverticulum (VA/VD) are rare cardiac anomalies with lack prenatal evaluation data. The present study aimed to provide the prenatal characteristics and outcomes from a tertiary center and the use of new techniques to evaluate the shape and contractility of these fetuses. Ten fetuses were diagnosed with VA or VD, and 30 control fetuses were enrolled. Fetal echocardiography was performed to make the diagnosis. The prenatal echo characteristics and follow-up data were carefully reviewed. The shape and contractility measurements of the four-chamber view (4CV) and both ventricles were measured and computed using fetal fetal heart quantification (HQ). A total of 10 fetuses were enrolled, including 4 cases of left ventricular diverticulum, 5 cases of left ventricular aneurysm, and 1 case of right ventricular aneurysm (RVA). Four cases chose to terminate the pregnancy. The RVA was associated with a perimembranous ventricular septal defect. Two cases had fetal arrhythmia, and one case had pericardial effusion. After birth, one case underwent surgical resection at five years old. The 4CV global sphericity index (SI) of free-wall located ventricular outpouching (VO) was significantly lower than the apical ones and the control group (p < 0.01). Four of five apical left VOs had significant higher (>95th centile) SI in base segments, and three of four left VOs in the free-wall had significant lower (< 5th centile) SI in the majority of 24 segments. Compared to the control group, the left ventricle (LV) global longitudinal strain, ejection fraction, and fractional area change were significantly decreased (p < 0.01), while the LV cardiac output of the cases was in the normal range. The transverse fraction shortening of the affected segments of ventricles was significantly lower than the other ventricle segments (p < 0.01). Fetal HQ is a promising technique to evaluate the shape and contractility of congenital ventricular aneurysm and diverticulum.

A Rare Case of Biparental Placental Mesenchymal Dysplasia: A Case Report and Literature Review [ID: 1336615

INTRODUCTION: Placental mesenchymal dysplasia (PMD) is a rare placental anomaly associated with high perinatal mortality; it is predominantly seen in female fetuses and very few cases have been reported. The evaluation of first- and second-trimester products of conception is of the utmost importance when assessing molar pathologies such as complete hydatidiform moles, partial hydatidiform moles, and nonmolar samples. METHODS: We report a monochorionic 46XX,69XXY pregnancy with placental mesenchymal dysplasia (PMD) with possible androgenetic biparental mosaicism etiology (Instituto Nacional de Perinatología Isidro Espinosa de los Reyes approval number P-270-18). RESULTS: The patient is a 28-year-old gravida 2, para 1, female with no notable past medical history. She had a previous pregnancy resulting in an uncomplicated abdominal delivery at 39 weeks of gestation 5 years prior. The patient was transferred to our health center at 24.2 weeks of gestation with a molar component because of USG data consistent with a probable hepatic tumor, perimembranous ventricular septal defect, and probable PMD. Ultrasound at 24.3 weeks of gestation demonstrated a single intrauterine pregnancy with one-third of the placenta appearing normal, the second third showing irregular cystic masses, and the remaining third with larger cysts. Placental mesenchymal dysplasia was diagnosed retrospectively based on data from the gross, histologic, and genetic components. CONCLUSION: To our knowledge, this is the first reported case of PMD with a 46XX,69XXY karyotype. A radical and cautious approach to PMD cases is needed because of the lack of sufficient data and reports.

Laubry-Pezzi syndrome: three case reports and review of the literature.

We reported three cases of Laubry-Pezzi syndrome diagnosed in our department of cardiology on a cohort of more than 3000 cases of congenital heart disease. A 13-year-old patient presented a Laubry-Pezzi syndrome with severe AR and significant volumetric left ventricle overload and was operated on in time to allow a good evolution of his condition. A 43-year-old patient, followed for congenital cardiac pathology, presented with severe dyspnea. The echocardiogram found global dysfunction of the left ventricle with an ejection fraction of 35%, a perimembranous ventricular septal defect (VSD) almost completely closed by the prolapse of the noncoronary cusp, and severe eccentric aortic insufficiency due to the prolapse of the noncoronary cusp. Aortic valve replacement and VSD closure were indicated. The third patient is a 21-year-old patient with Down syndrome, in whom a grade 2/6 systolic murmur was detected. Transthoracic echocardiography revealed a perimembranous VSD measuring 4mm without any hemodynamic repercussions and a moderate aortic insufficiency due to the prolapse of the noncoronary cusp. Clinical and echocardiographic monitoring with Osler prevention was indicated as a modality of management. The pathophysiology is explained by the Venturi effect, the restrictive shunt of the VSD creates an area of low pressure that sucks the adjacent cusp resulting in aortic prolapse and regurgitation. The diagnosis is essentially based on transthoracic echocardiography; it must be conducted before the emergence of AR. The management of this rare syndrome still remains nonconsensual, whether it is through timing or operative techniques. Management must be early by closing the VSD with or without aortic valve intervention to prevent the onset or worsening of AR.