Thoracic ectopia cordis: A case report.

Ectopia cordis is a congenital heart malformation of the sternal wall, with a prevalence of 0.1% among heart conditions and an incidence of 5.5 to 7.9 per million births. It is characterized by the heart being located outside the thoracic cavity, and it may be accompanied by other congenital anomalies such as omphalocele, Cantrell´s pentalogy, or Fallot´s tetralogy. We present a case of thoracic ectopia cordis in a male neonate. After birth, we also observed a midline thoracic malformation and respiratory difficulties with clinical and paraclinical features consistent with tetralogy of Fallot. It was decided to provide skin flap coverage, and due to the poor prognosis of the heart condition, palliative care was chosen. Unfortunately, the neonate passed away after seven days. This clinical case study contributes to understanding this rare condition and may help improve diagnosis and treatment of affected patients.

La ectopia cordis es una malformación cardíaca congénita de la pared esternal, con una prevalencia del 0,1%, e incidencia del 5,5 al 7,9 por millón de nacimientos. Se caracteriza por situar al corazón fuera de la cavidad torácica, puede acompañarse de otras anomalías congénitas como onfalocele, pentalogía de Cantrell o tetralogía de Fallot. Presentamos un caso de ectopia cordis torácica en un recién nacido de sexo masculino. Después del nacimiento, también observamos una malformación de la línea media torácica y dificultad respiratoria con características clínicas y paraclínicas compatibles con tetralogía de Fallot. Se realizó una cobertura con colgajo cutáneo, y debido al mal pronóstico, se optó por cuidados paliativos; con fallecimiento después de siete días. Este estudio de caso clínico contribuye a la comprensión de esta rara enfermedad, y puede ayudar a mejorar el diagnóstico y tratamiento de los pacientes afectados.

Primary surgical repair of tetralogy of fallot at the Uganda Heart Institute: a ten-year review of 30day mortality and morbidity.

BACKGROUND: Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease (CHD) worldwide. It accounts for 7% of CHD cases in Uganda and leads to fatal outcomes in the long term without surgery. Surgery is often delayed in developing countries like Uganda due to limited resources. OBJECTIVE: This study aimed to determine the early surgical outcomes of patients with TOF who underwent primary intracardiac repair at the Uganda Heart Institute (UHI) and to identify factors associated. METHODOLOGY: This retrospective chart review evaluated outcomes of primary TOF repair patients at UHI from February 2012 to October 2022. Patient outcomes were assessed from surgery until 30 days post-operation. RESULTS: Out of the 104 patients who underwent primary TOF repair at UHI, records of 88 patients (84.6%) were available for review. Males accounted for 48.9% (n = 43). The median age at the time of operation was 4 years (with an interquartile range of 2.5-8.0 years), ranging from 9 months to 16 years. Genetic syndromes were present in 5/88 (5.7%). These included 2 patients with trisomy 21, 2 with Noonan's, and 1 with 22q11.2 deletion syndrome. Early postoperative outcomes for patients included: residual ventricular septal defects in 35/88 (39.8%), right ventricular dysfunction in 33/88 (37.5%), residual pulmonary regurgitation in 27/88 (30.7%), residual right ventricular outflow tract obstruction in 27/88 (30.0%), pleural effusion in 24/88 (27.3%), arrhythmias in 24/88(27.3%), post-operative infections in 23/88(26.1%) and left ventricular systolic dysfunction in 9/88 (10.2%). Out of the children who underwent surgery after one year of age, 8% (7 children) died within the first 30 days. There was a correlation between mortality and post-operative ventilation time, cardiopulmonary bypass (CPB) time, aortic cross-clamp time, preoperative oxygen saturations, RV and LV dysfunction and the operating team. CONCLUSION: The most frequent outcomes after surgery were residual ventricular septal defects and right ventricular failure. In our study, the 30-day mortality rate following TOF repair was 8%. Deceased patients had lower pre-operative oxygen levels, longer CPB and cross-clamp times, longer post-operative ventilation, RV/LV dysfunction, and were more likely operated by the local team.

A Severe and Fatal Type A Aortic Dissection in an Adult with a Repaired Tetralogy of Fallot.

We report a case of a 44-year-old woman surgically treated for tetralogy of Fallot who experienced an acute and extensive Stanford A type aortic dissection despite the meticulous follow-up. While aortic dilatation is prevalent in individuals with repaired tetralogy of Fallot, aortic dissection represents a rare consequence, that when it appears, is progressive and usually detected during the check-up visits. In the case reported, the dissection was unexpected and severe, and the patient's clinical state worsened suddenly, leading to death after a few days. Constant awareness for aortic aneurysms is essential in the Fallot tetralogy population, nevertheless, several causes may contribute to the acute worsening of the clinical condition until the patient's death.

Quadricuspid aortic valve in a neonate with Fallot's tetralogy.

A 3-day-old male neonate was referred to our hospital for a cardiac echocardiogram.

Congenital Eyelid Imbrication and Floppy Eyelid Syndromes Complicated by Eversion due to Prostaglandin E Infusion in a Patient With Trisomy 21 and Tetralogy of Fallot.

Congenital eyelid imbrication syndrome is a rare eyelid finding where a long upper lid overlaps the lower lid when the eyes are closed. To date, congenital eyelid imbrication syndrome has been described in the literature less than 10 times. We present a case of congenital eyelid imbrication syndrome in a patient with trisomy 21 and tetralogy of Fallot on a prostaglandin E infusion to maintain a patent ductus arteriosus prior to definitive heart surgery. While on the infusion, the patient developed peripheral edema and flushing due to vasodilation. This coincided with eyelid swelling, conjunctival chemosis, and eversion of the eyelids. Upon cessation of the prostaglandin E1 infusion, his eyelid eversion resolved.

Predictors of Post-Operative Hospital Length of Stay Following Complete Repair of Tetralogy of Fallot in a Pediatric Cohort in the North of England.

We sought to estimate the median post-operative length of stay (PLOS) and predictors of PLOS following tetralogy of Fallot (ToF) repair at a specialist surgical center in the North of England. The local National Congenital Heart Disease Audit dataset was used to identify patients aged < 2 years who underwent surgical repair for ToF between 1 January 1986 and 13 May 2022. Coefficients representing the median change in PLOS (days) according to predictors were estimated using Quantile regression. There were 224 patients (59.4% male, median age = 9 months, interquartile range (IQR) 5-13 months) with a median PLOS of 9 days (IQR 7-13). In the univariable regression, age (months) and weight (kg) at operation (ß = - 0.17, 95% CI: - 0.33, - 0.01) and (ß = - 0.53, 95% CI: - 0.97, - 0.10), previous (cardiac or thoracic) procedure (ß = 5, 95% CI:2.38, 7.62), procedure urgency (elective vs urgent) (ß = 2.8, 95% CI:0.39, 5.21), bypass time (mins) (ß = 0.03, 95% CI:0.01, 0.05), cross-clamp time (mins) (ß = 0.03, 95% CI:0.01, 0.06) and duration of post-operative intubation (days) (ß = 0.81, 95% CI:0.67, 0.96), were significantly associated with PLOS. Previous procedure and intubation time remained significant in multivariable analyses. Some patient and operative factors can predict PLOS following complete ToF repair. Information on PLOS is important for health professionals to support parents in preparing for their child's discharge and to make any necessary practical arrangements. Health commissioners can draw on evidence-based guidance for resource planning. The small sample size may have reduced the power to detect small effect sizes, but this regional study serves as a foundation for a larger national study.

Incremental value of machine learning for risk prediction in tetralogy of Fallot.

OBJECTIVE: Machine learning (ML) can facilitate prediction of major adverse cardiovascular events (MACEs) in repaired tetralogy of Fallot (rTOF). We sought to determine the incremental value of ML above expert clinical judgement for risk prediction in rTOF. METHODS: Adult congenital heart disease (ACHD) clinicians (≥10 years of experience) participated (one cardiac surgeon and four cardiologists (two paediatric and two adult cardiology trained) with expertise in heart failure (HF), electrophysiology, imaging and intervention). Clinicians identified 10 high-yield variables for 5-year MACE prediction (defined as a composite of mortality, resuscitated sudden death, sustained ventricular tachycardia and HF). Risk for MACE (low, moderate or high) was assigned by clinicians blinded to outcome for adults with rTOF identified from an institutional database (n=25 patient reviews conducted by five independent observers). A validated ML model identified 10 variables for risk prediction in the same population. RESULTS: Prediction by ML was similar to the aggregate score of all experts (area under the curve (AUC) 0.85 (95% CI 0.58 to 0.96) vs 0.92 (0.72 to 0.98), p=0.315). Experts with ≥20 years of experience had superior discriminative capacity compared with <20 years (AUC 0.98 (95% CI 0.86 to 0.99) vs 0.80 (0.56 to 0.93), p=0.027). In those with <20 years of experience, ML provided incremental value such that the combined (clinical+ML) AUC approached ≥20 years (AUC 0.85 (95% CI 0.61 to 0.95), p=0.055). CONCLUSIONS: Robust prediction of 5-year MACE in rTOF was achieved using either ML or a multidisciplinary team of ACHD experts. Risk prediction of some clinicians was enhanced by incorporation of ML suggesting that there may be incremental value for ML in select circumstances.

Modified Transannular Patching Palliation versus Modified Blalock-Taussig-Thomas Shunt in Infants with Severe Tetralogy of Fallot with Diminutive Pulmonary Arteries.

OBJECTIVE: The purpose of this study was to compare pulmonary arterial (PA) growth and morbidity, mortality, reintervention and complete repair rates after modified transannular patching palliation (mTAP) versus modified Blalock-Taussig-Thomas shunt (mBTS) for palliation in infants with severe tetralogy of Fallot (TOF) with diminutive pulmonary arteries. METHODS: This was a retrospective case review study of 107 patients (64 males) with severe TOF who underwent staged repair with either mTAP (n = 55) or mBTS (n = 52) over an 8-year period. Procedure-related PA growth and morbidity, mortality, reintervention and complete repair rates were compared. RESULTS: Two deaths occurred in the mBTS group due to sudden cardiac arrest, and five patients needed reintervention after the mBTS procedure because of shunt thrombosis or stenosis. Postoperative complications of mBTS included sudden cardiac arrest, shunt thrombosis/stenosis, vocal cord palsy and diaphragmatic palsy. Unlike in the mBTS group, no death, severe complications or reintervention occurred in the mTAP group. Oxygen saturations post mTAP and mBTS were significantly higher, which improved from 67.73 ± 4.36% to 94.33 ± 2.19% in the mTAP group and from 68.24 ± 3.87% to 86.87 ± 3.38% in the mBTS group. The increase in oxygen saturation and pulmonary artery growth (from pre- to post palliation) was significantly better with mTAP than with mBTS palliation (p < 0.01). All 55 patients showed complete repair after mTAP, and the time from palliation to complete repair was significantly shorter in the mTAP group. CONCLUSIONS: In a severe form of TOF with the hypoplastic PA tree, mTAP seems to be a better strategy that is safe and better facilitates satisfactory pulmonary arterial growth until complete repair than the mBTS procedure.

Managing Tetralogy of Fallot During Interhospital Transfers.

Pediatric and neonatal critical care providers involved in transport run calls involving patients diagnosed with Tetralogy of Fallot, which can occasionally be a challenge for some providers. Making up around 10% of all congenital heart defects, inevitably makes Tetralogy of Fallot (TOF) the most common of all the cyanotic congenital heart diseases. There are some transport teams that do not have the capability and invasive equipment that a referring hospital may have to manage these high acuity low volume patients. This makes it imperative to have a good working knowledge of this condition, and more importantly, the ability to recognize it when encountered so that you will then be able treat these patients.

Plasma metabolic profiling of patients with tetralogy of fallot.

BACKGROUND: Tetralogy of Fallot (TOF) is a common congenital heart disease with high mortality. However, the medical imageology and liquidbiopsy techniques present certain limitations. Thus, this study investigated the plasma metabolic profiles to distinguish key metabolites for early diagnosis of TOF. METHODS: In total, 69 patients with TOF and 43 normal controls were enrolled for targeted metabolomics based on liquid chromatography-tandem mass spectroscopy (LC-MS/MS). Absolute quantification of metabolites was performed using our standard database. The differentially expressed metabolites (DEMs) were screened by fold change (FC), VIP value and pearson correlation coefficient of OPLS-DA model. Receiver operating characteristic curve (ROC) was used to evaluate predictive ability of DEMs. RESULTS: Different metabolic profiles were presented between TOF and Normal.The pathway analysis showed that significantly changed metabolites were enriched in nicotinamide and purine metabolism. Many intermediatesproductof purine and amido acid were higher in TOF than in Normal group, while energy substrates and electron carriers were lower in TOF than in Normal group. ROC analysis revealed a high diagnostic value of plasma FAD for differentiating TOF from Normal (AUC = 1). CONCLUSION: Our study quantitatively characterized plasma metabolites in patients with TOF and may help to develop reliable biomarkers that contribute to the early TOF screening.

Sinus rhythm QRS morphology reflects right ventricular activation and anatomical ventricular tachycardia isthmus conduction in repaired tetralogy of Fallot.

BACKGROUND: Patients with repaired tetralogy of Fallot (TOF) are at risk for ventricular tachycardia (VT) related to well-described anatomical isthmuses. OBJECTIVE: The purpose of this study was to explore QRS morphology as an indicator of anatomical isthmus conduction. METHODS: Patients with repaired TOF and complete right bundle branch block referred for transcatheter pulmonary valve replacement (PVR) or presenting with sustained VT underwent comprehensive 3-dimensional mapping in sinus rhythm. Electrocardiographic characteristics were compared to right ventricular (RV) activation and anatomical isthmus conduction properties. RESULTS: Twenty-two patients (19 pre-pulmonary valve replacement and 3 clinical VT) underwent comprehensive 3-dimensional mapping (median 39 years; interquartile range [IQR] 27-48 years; 12 [55%] male). Septal RV activation (median 40 ms; IQR 34-46 ms) corresponded to the nadir in lead V1 and free wall activation (median 71 ms; IQR 64-81 ms) to the transition point in the upstroke of the R' wave. Patients with isthmus block between the pulmonary annulus and the ventricular septal defect patch and between the ventricular septal defect patch and the tricuspid annulus (when present), were more likely to demonstrate lower amplitude R' waves in lead V1 (5.8 mV vs 9.4 mV; P = .005), QRS fragmentation in lead V1 (15 [94%] vs 2 [13%]; P < .001), and terminal S waves in lead aVF (15 [94%] vs 6 [40%]; P < .001) than those with intact conduction. During catheter ablation, these QRS changes developed during isthmus block. CONCLUSION: For patients with repaired TOF, the status of septal isthmus conduction was evident from sinus rhythm QRS morphology. Low-amplitude, fragmented R' waves in lead V1 and terminal S waves in the inferior leads were related to septal isthmus conduction abnormalities, providing a mechanistic link between RV activation and common electrocardiographic findings.

Out of the blue: inflammatory myofibroblastic tumour identified during repair of tetralogy of Fallot with absent pulmonary valve.

Inflammatory myofibroblastic tumour of the heart is an exceedingly rare benign neoplasm. While benign, without prompt management its impact can be devastating. Tetralogy of Fallot with absent pulmonary valve is a rare form of CHD. We present the first documented case of inflammatory myofibroblastic tumour of the heart in the presence of tetralogy of Fallot with absent pulmonary valve.

The R″ wave in V1 and the negative terminal QRS vector in aVF combine to a novel 12-lead ECG algorithm to identify slow conducting anatomical isthmus 3 in patients with tetralogy of Fallot.

AIMS: Patients with repaired tetralogy of Fallot (rTOF) have an increased risk of ventricular tachycardia (VT), with slow conducting anatomical isthmus (SCAI) 3 as dominant VT substrate. In patients with right bundle branch block (RBBB), SCAI 3 leads to local activation delay with a shift of terminal RV activation towards the lateral RV outflow tract which may be detected by terminal QRS vector changes on sinus rhythm electrocardiogram (ECG). METHODS AND RESULTS: Consecutive rTOF patients aged ≥16 years with RBBB who underwent electroanatomical mapping at our institution between 2017-2022 and 2010-2016 comprised the derivation and validation cohort, respectively. Forty-six patients were included in the derivation cohort (aged 40±15 years, QRS duration 165±23 ms). Among patients with SCAI 3 (n = 31, 67%), 17 (55%) had an R″ in V1, 18 (58%) had a negative terminal QRS portion (NTP) ≥80 ms in aVF, and 12 (39%) had both ECG characteristics, compared to only 1 (7%), 1 (7%), and 0 patient without SCAI, respectively.Combining R″ in V1 and/or NTP ≥80 ms in aVF into a diagnostic algorithm resulted in a sensitivity of 74% and specificity of 87% in detecting SCAI 3. The inter-observer agreement for the diagnostic algorithm was 0.875. In the validation cohort [n = 33, 18 (55%) with SCAI 3], the diagnostic algorithm had a sensitivity of 83% and specificity of 80% for identifying SCAI 3. CONCLUSION: A sinus rhythm ECG-based algorithm including R″ in V1 and/or NTP ≥80 ms in aVF can identify rTOF patients with a SCAI 3 and may contribute to non-invasive risk stratification for VT.

Acute Esophageal Necrosis Secondary to Cyanotic Spells Associated with Unrepaired Tetralogy of Fallot.

Tetralogy of Fallot (ToF) is the most common cyanotic congenital heart disease. Cyanotic spells occur more frequently after infancy in unrepaired cases. Acute esophageal necrosis (AEN) is a rare disease that causes circumferential mucosal necrosis in the distal esophagus. We report the case of a 26-year-old man who was admitted due to coffee-ground emesis, black stools, and decreased oxygen saturations. The patient had an unrepaired ToF and a congenital portosystemic venous shunt. An upper gastrointestinal endoscopy revealed AEN, which could be due to unstable hemodynamics of cyanotic spells. This is the first adult case presenting these 2 conditions occurring simultaneously.

Right Ventricular Outflow Tract Stenting is a Safe and Effective Bridge to Definitive Repair in Symptomatic Infants With Tetralogy of Fallot1.

INTRODUCTION: Right ventricular outflow tract (RVOT) stent angioplasty is a palliative procedure for neonates and infants with symptomatic tetralogy of Fallot prior to surgical repair. We review our institutional outcomes of RVOT stenting. METHODS: Retrospective review of all infants with tetralogy of Fallot under 3 months of age who underwent primary native RVOT stent angioplasty at The Children's Hospital at Westmead, Sydney, Australia between January 2010 and December 2020. Demographics and echocardiographic pulmonary artery dimensions were collected pre-stent angioplasty and prior to surgical repair. RESULTS: Twenty (20) infants underwent primary RVOT stenting. Median age at stent was 14 days (interquartile range [IQR] 7-32) and median weight 2.7 kg (IQR 2.1-3.4). Three patients underwent hybrid per-ventricular procedures. Indication for RVOT stenting was recurrent hyper-cyanotic spells in 12 (60%) and duct-dependent pulmonary blood flow in 8 (40%). Saturations increased from a median of 80% (IQR 75-85) to 91% (IQR 90-95) post procedure (P<0.001). A single major complication occurred: transient complete atrioventricular dissociation requiring isoprenaline infusion for <24 hours. Twelve (12, 60%) required catheter re-intervention prior to definitive repair for further augmentation of pulmonary blood flow. There were two non-cardiac deaths distant from the stent procedure, but prior to surgical repair. Median right and left pulmonary artery Z-scores increased respectively from -2.06 (IQR -2.99 to -0.17) and -1.2 (IQR -2.59 to -0.14) prior to RVOT stent, to -0.74 (IQR [-1.21 to 0.26], P=0.01) and 0.06 (IQR [-1.87 to 1.15], P=0.006) by the time of definitive repair. Eighteen (18) patients achieved definitive repair at a median age of 6.1 months (IQR 4.7-7.3). Palliation with more than one RVOT stent was associated with an increased duration of cardiac bypass (P=0.035) and cross-clamp (P=0.044) time at definitive repair. CONCLUSIONS: In symptomatic neonates and infants with tetralogy of Fallot at high-risk of peri-operative complications, RVOT stent angioplasty can safely and effectively augment pulmonary blood flow prior to definitive repair.