A review of the current policies and guidance regarding Apgar scoring and the detection of jaundice and cyanosis concerning Black, Asian and ethnic minority neonates.

BACKGROUND: Ethnic inequalities in maternal and neonatal health in the UK are well documented. Concerns exist regarding the use of skin colour in neonatal assessments. Healthcare professionals should be trained to recognise symptoms of diverse skin tones, and comprehensive, and inclusive guidance is necessary for the safe assessment of all infants. Disparities in healthcare provision have been emphasised during the COVID-19 pandemic, and additional research is needed to determine whether such policies adequately address ethnic minority neonates. METHODS: A desktop search included searches of guidance produced for the United Kingdom (UK). Further searches of the Cochrane and World Health Organization (WHO) were used to identify any international guidance applicable in the UK context. RESULTS: Several policies and one training resource used descriptors 'pink,' 'pale,' 'pallor,' and 'blue' about neonatal skin and mucous membrane colour. No policies provided specific guidance on how these colour descriptors may appear in neonates with different skin pigmentation. Only the NICE guidance and HEE e-learning resource acknowledged the challenges of assessing jaundice in infants with diverse skin tones, while another guideline noted differences in the accuracy of bilirubin measurements for the assessment of jaundice. Three policies and one training resource advised against relying on visual observation of skin colour when diagnosing neonatal conditions. The training resource included images of ethnic minority neonates, although most images included white infants. CONCLUSIONS: Inadequate consideration of ethnicity in UK policy and training perpetuates disparities, leading to inaccurate assessments. A review is needed for inclusivity in neonatal care, regardless of skin pigmentation.

Clinical Presentation and Therapy of Ventricular Septal Defect.

Ventricular septal defects (VSDs) occur in 1.5-3.5 of 1000 live births and constitutes 20 % of congenital cardiac defects. There is no gender predominance.

Clinical Presentation and Therapy of Total Anomalous Pulmonary Venous Return.

Total anomalous pulmonary venous return (TAPVR) is rare (accounting for about 1% of all CHD) and can occur as a single lesion or in combination with other types of CHD (such as heterotaxy or HLHS). TAPVR is defined as an abnormal connection where all pulmonary veins do not drain into the left atrium but into the right atrium either directly or through a vein that is connected to the right atrium. TAPVR can be divided into four anatomic groups (Fig. 32.1): (1) supracardiac (about 55%), (2) cardiac (about 30%), (3) infracardiac (about 13%), and (4) mixed (very rare). In addition, it can be divided into two physiological types: nonobstructed and obstructed. Embryologically, all pulmonary veins usually connect to a pulmonary venous confluence that connects to the left atrium. If this connection does not occur, the pulmonary venous confluence connects to a systemic vein instead.

Bridging the gap in BASCULE syndrome: A retrospective case series of a recently described clinical entity.

BACKGROUND: Bier anemic spots, cyanosis with urticaria-like eruption (BASCULE) syndrome is a recently described entity with episodic urticarial lesions and white anemic halos on a background of erythrocyanosis, commonly affecting the lower extremities. Possible association with autonomic dysfunction remains poorly understood. Existing publications are limited, but the condition is suggested as highly underrecognized. OBJECTIVE: To further characterize clinical and epidemiologic data for BASCULE syndrome. METHODS: We performed an IRB-approved retrospective chart review on patients with BASCULE syndrome evaluated at Mayo Clinic from April 2021 to November 2022. RESULTS: A total of 17 patients were identified (13 female, 4 male). Median age of onset was 12 years (range 9-17). Lower extremities were involved in all patients (17). Most patients were symptomatic with pruritus (8) or burning pain (8); three were asymptomatic. Triggers were standing (11), hot showers or hot environments (7), or no clear trigger (4). Autonomic dysfunction was present in 10 patients. Treatment responses were observed from propranolol (3) and high-dose cetirizine (1). CONCLUSION: Novel epidemiologic data from 17 pediatric and young adult patients with BASCULE syndrome further supports an association with autonomic dysfunction and suggests a higher prevalence than previously acknowledged.

Propranolol Therapy in Tetralogy of Fallot: Treating the Echocardiogram or Treating the Patient.

Hypercyanotic spells are one of the defining clinical features of Tetralogy of Fallot (TOF). Limited data exist on peak Doppler right ventricular outflow tract (RVOT) gradient as a risk factor for the development of hypercyanotic spells, frequency of prophylactic use of propranolol based on peak RVOT gradient, and its impact on preventing the occurrence of hypercyanotic spells. We aimed to quantify peak RVOT gradients as measured on transthoracic echocardiography in infants with unrepaired TOF and assess for correlation with clinical symptoms of hypercyanotic spells. We also assessed the frequency of pre-operative use of propranolol, indication for medication initiation, and occurrence of hypercyanotic spells with or without propranolol use. Retrospective analysis was performed on patients at our institution who were born between February 1, 2011 and May 31, 2023. Patients were excluded if they were maintained on prostaglandin infusion or underwent palliative shunt placement or balloon valvuloplasty prior to complete surgical repair. Demographics, occurrence of hypercyanotic spells, propranolol use, peripheral oxygen saturation, age at surgical repair, and peak RVOT gradient at the time of propranolol initiation were collected from the electronic medical record. If no propranolol use was recorded, the single highest maximum RVOT gradient prior to surgery was collected. 203 patients were identified, of which 92 patients were included in analysis. Thirty-six (39%) patients received propranolol and 19% of patients developed hypercyanotic spells prior to surgery. Patients with higher peak RVOT gradients were more likely to be started on propranolol even in the absence of overt symptoms, and they also demonstrated more systemic desaturation. Additionally, peak RVOT gradient was found to be a poor predictor for the development of hypercyanotic spells. Wide clinical variation exists in the prophylactic use of propranolol for prevention of hypercyanotic spells. Peak RVOT gradient is not a reliable tool for prophylactic propranolol initiation to prevent hypercyanotic spells.

Nucleated Red Blood Cell Counts Differentiate Cardiac from Respiratory Causes of Cyanosis at Birth.

Tissue hypoxia increases erythropoietin production and release of immature erythrocytes that can be measured using nucleated red blood cell counts (nRBC). We hypothesized that hypoxia due to congenital heart disease (CHD) is chronic and is better tolerated than hypoxia due to respiratory disease (RD), which is an acute stress in newborns leading to higher nRBC. This study assesses the utility of nRBC as a marker to differentiate hypoxia due to CHD vs RD in term neonates. This was a single-center, retrospective study of term neonates with cyanosis from 2015 to 2022. Neonates < 37 weeks of gestation, with hypoxic-ischemic encephalopathy, and those with other causes of cyanosis were excluded. The patients were divided into 2 groups: cyanotic CHD and cyanotic RD. Clinical and laboratory data done within 12 h and 24-36 h after birth were collected. Data are represented as median and Interquartile range. Of 189 patients with cyanosis, 80 had CHD and 109 had RD. The absolute nRBC count at ≤ 12 h of age was lower in the CHD (360 cells/mm3) compared to RD group (2340 cells/mm3) despite the CHD group having significantly lower baseline saturations. A value of 1070 cells/mm3 was highly sensitive and specific for differentiating CHD from RD. The positive predictive value for this cut-off value of 1070 cells/mm3 was 0.94 and the negative predictive value was 0.89. The absolute nRBC is a simple screening test and is available worldwide. A nRBC < 1070 cells/mm3 in cyanotic newborns should hasten the search for CHD etiology with the possible need for prostaglandin therapy.

Early and Long-Term Clinical Outcomes of Ductal Stenting Versus Surgical Aortopulmonary Shunt Among Young Infants with Duct-Dependent Pulmonary Circulation.

Surgical aortopulmonary shunting (SAPS) and ductal stenting (DS) are the main palliations in infants with cyanotic congenital heart diseases (CHD). We aimed to study the safety and efficacy of DS and to compare it with SAPS as a palliative procedure in infants with CHD and duct-dependent pulmonary circulation. Retrospective institutional clinical data review of consecutive infants aged < 3 months who underwent DS or SAPS over 5 years. The primary outcome was procedural success which was defined as event-free survival (mortality, need for re-intervention, procedural failure) at 30 days post-procedure. The secondary outcome was defined by a composite of death, major adverse cardiovascular events, or need for re-intervention at 6 months and on long-term follow-up. We included 102 infants (DS, n = 53 and SAPS, n = 49). The median age at DS and SAPS was 4 days (IQR 2.0-8.5) and 8 days (IQR 4.0-39.0), respectively. The median weight at intervention was 3.0 kg (IQR 3.0-3.0) and 3.0 kg (IQR 2.5-3.0) in the two respective arms. Tetralogy of Fallot with pulmonary atresia was the most common indication for DS and SAPS. The 30-day mortality was significantly higher in SAPS group as compared with DS group (p < 0.05). However, 30-day major adverse cardiac events (MACE) rates were similar in both groups (p = 0.29). DS was associated with shorter duration of mechanical ventilation, duration of stay in the intensive care and hospital stay than with SAPS. At 6 months, there was no significant difference in terms of mortality or event-free survival. Long-term MACE-free survival was also comparable (p = 0.13). DS is an effective and safer alternative to SAPS in infants with duct-dependent pulmonary circulation, offering reduced procedure-related mortality and morbidity than SAPS. Careful study of ductal anatomy is crucial to procedural success. However, long-term outcomes are similar in both procedures.

Common diagnostic errors in adults with congenital heart disease.

Owing to the great advances in the care for children with congenital heart disease by paediatric cardiac surgeons and cardiologists, there are ever increasing numbers of patients with congenital heart disease who reach adult life. At some stage during the late teenage years or soon after, these patients 'transition' from paediatric cardiac care to surveillance by cardiologists who look after adults. Many such specialists, however, are more familiar with commoner acquired heart problems such as coronary disease, heart failure, and arrhythmia in structurally normal hearts and less familiar with congenital heart disease. For this reason, international guidelines have suggested that the care of young adults with congenital heart disease take place in designated specialist adult congenital heart disease centres. It remains very important, however, for general cardiologists to have a good understanding of many aspects of adult congenital heart disease, including common pitfalls to avoid and, importantly, when to refer on, to a specialist centre. To help healthcare providers across the spectrum of cardiology practice to address common themes in adult congenital heart disease, this state-of-the-art review provides a series of case vignettes to illustrate frequent diagnostic problems that we have seen in our tertiary-level adult congenital heart disease centres, which are sometimes encountered in general cardiology settings. These include commonly 'missed' diagnoses, or errors with diagnosis or management, in these often very complex patients.

Hypoxia following warden procedure: evaluation and percutaneous treatment.

Partial anomalous venous connection with sinus venosus atrial septal defect is repaired with different approaches including the Warden procedure. Complications include stenosis of the superior caval vein and pulmonary venous baffle; however, cyanosis is rarely seen post-operatively. We report a patient presenting with cyanosis 5 years after a Warden, which was treated with a transcatheter approach.

Amplatzer Vascular Plug closure of an iatrogenic interatrial tunnel-type communication.

A 50-year-old woman who had atrial septal defect surgery at 11 months old underwent ascending aortic aneurysm resection and two attempts at closure of a residual atrial septal defect. Post-operatively, she had severe cyanosis. She was referred to our centre where a transesophageal echocardiogram and cardiac catheterisation showed an iatrogenic interatrial tunnel-type communication that was closed with an Amplatzer Vascular Plug.

Neuromental health aspects in adults with CHD after cardiopulmonary bypass intervention during childhood.

OBJECTIVE: It is often assumed, that adult patients with CHD (ACHD) have impairments regarding their cognitive function (CF) and health-related quality of life. In particular, it seems reasonable to assume that cyanosis may have a potential impact on CF as well as surgical or drug treatment into adulthood. This study assesses neuromental health aspects such as CF and health-related quality of life in ACHD patients. METHODS: Seventy-eight ACHD patients (female n = 39 (50%); 34.1 ± 12.9 years; cyanotic CHD n = 49 (62.8%) with a cyanosis duration of 159.8 ± 196.2 month) who underwent open heart surgery as first intervention were asked to participate during routinely follow-up in 2018. Wechsler Intelligence Scale IV was used for CF and the Short Form 36 Health Survey to assess health-related quality of life. RESULTS: Intelligence quotient measures showed significant differences comparing never cyanotic and with a cyanotic phase in verbal comprehension (p = 0.013). There was no association of CF with cyanosis duration, number of surgery or catheter, CHD severity, and time of first surgery. The group of early surgery showed significantly better results in physical function (p = 0.040) of health-related quality of life, and in comparison with their assigned reference, both groups showed significantly reduced results in all domains except in bodily pain and mental health. Full-Scale intelligence quotient correlates with physical function of health-related quality of life. CONCLUSIONS: The results show normal CF in ACHD. Health-related quality of life was weak in comparison with the reference. There is a need to improve the well-being of our ACHD with structured programmes, including physical activity programmes. This growing ACHD population should be focused in order of their needs, medical ones on one hand and on the other hand psychosocial matters.

Effective control of refractory pulmonary hypertension with iloprost inhalation in an infant with congenital absence of the right pulmonary artery: a case report.

Unilateral absence of the pulmonary artery is a rare congenital cardiovascular anomaly that can lead to pulmonary hypertension and poor outcomes. We report the case of a 1-month-old infant with isolated unilateral absence of the pulmonary artery and severe pulmonary hypertension on the right and left sides, respectively. The patient was unresponsive to multiple medications for pulmonary hypertension, and surgical revascularisation was unfeasible. However, iloprost inhalation was effective.

A case of a tetralogy of Fallot patient treated only with classic Blalock-Taussig-Thomas shunt in modern life.

We showed images of classic Blalock-Taussig-Thomas shunt in a 35-year-old male patient with tetralogy of Fallot who underwent palliative surgery in 1992. It is a rare image echocardiography in our modern life.

De Novo Occurrence of Hb Chile [ß28(B10) Leu→Met] in a Korean Boy with Methemoglobinemia.

Hemoglobin (Hb) Chile, a variant of Hb M, is produced by a point mutation of CTG→ATG on codon 29 (legacy codon 28) of the Hb ß locus gene, which results in an amino acid substitution of Leu→Met. It has been identified in two families worldwide and is inherited in an autosomal dominant manner. Here, we report a case of Hb Chile in which a de novo mutation was detected in the proband. A 17-year-old male presented to the outpatient clinic with a pale appearance. There was cyanosis on his lips and fingers. Blood tests indicated the existence of hemolysis, but complete blood counts revealed no anemia. Peripheral arterial oxygen saturation on pulse oximetry was 80% on room air and did not improve with oxygen supplementation. The level of methemoglobin was 15.4%. Targeted next-generation sequencing identified a heterozygous NM_000518.4(HBB):c.85C > A mutation, indicating Hb Chile. The Hb Chile mutation, on the other hand, was not discovered in his parents, implying that it arose as a result of a de novo mutation. This case highlights the necessity of suspecting Hb gene mutations in patients with unexplained chronic methemoglobinemia, even if there is no family history.

Failing with Cyanosis-Heart Failure in End-Stage Unrepaired or Partially Palliated Congenital Heart Disease.

Heart failure in cyanotic congenital heart disease (CHD) is diagnosed clinically rather than relying solely on ventricular function assessments. Patients with cyanosis often present with clinical features indicative of heart failure. Although myocardial injury and dysfunction likely contribute to cyanotic CHD, the primary concern is the reduced delivery of oxygen to tissues. Symptoms such as fatigue, lassitude, dyspnea, headaches, myalgias, and a cold sensation underscore inadequate tissue oxygen delivery, forming the basis for defining heart failure in cyanotic CHD. Thus, it is pertinent to delve into the components of oxygen delivery in this context.

Surgically Correctable Central Cyanosis: Congenital Extrahepatic Portosystemic Shunt in a Child.

Congenital extrahepatic portosystemic shunts (CEPS) are rare anomalies connecting the portal system to the inferior vena cava. This report discusses a 10-year-old boy with Type II c CEPS, presenting cyanosis and dyspnea. Surgical ligation resulted in significant improvement in symptoms. Early identification and intervention are crucial, necessitating a protocolized approach.

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

BACKGROUND: Congenital 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 PRESENTATION: A 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. CONCLUSION: This report unveiled unfamiliar case of Cameral coronary artery fistula with left-to-left shunting, cyanosis, and dysplastic tricuspid valve.

Congenital anomalous drainage of the inferior vena cava and hepatic veins into the left atrium associated with long QT syndrome: Multimodality imaging, pitfalls, and caveats.

Isolated congenital anomalous drainage of the inferior vena cava (IVC) and partial hepatic veins (HV) into the left atrium (LA) via an interatrial communication (IAC), associated with the normal connection of the IVC to the right atrium is exceedingly rare. Therefore, there is a dearth of knowledge regarding the management of these cases. To date, there has been no report of abnormal IVC drainage caused by abnormal IVC-IAC alignment. Much more frequently, patients have an abnormal connection or abnormal drainage mediated by a persistent Eustachian valve that allows blood to pass from the inferior vena cava to the left atrium. Herein, we report an 8-year-old boy with anomalous IVC and hepatic vein drainage into the LA due to IVC-IAC malalignment. We describe the findings of multimodality imaging, including transthoracic, transesophageal, contrast, and speckle-tracking echocardiography, cardiac angiography, and cardiac magnetic resonance imaging. We go over the diagnostic and therapeutic pitfalls and caveats of this case that can apply to similar patients.

Cyanosis in atrial septal defect with prominent crista terminalis.

Right-to-left shunt in atrial septal defect without pulmonary hypertension is a rare condition and can present with complications such as cyanosis. This is a rare case of cyanosis caused by right-to-left shunt atrial septal defect related to prominent crista terminalis.

Comparison of thromboelastographic profiles in pediatric patients with congenital heart disease according to existence of cyanosis.

PURPOSE: Congenital heart disease (CHD) is divided into two groups according to cyanosis status. Cyanotic CHD has a low level of systemic oxygenation and is accompanied by increased erythropoiesis. We hypothesized that pediatric patients with CHD would exhibit different thromboelastographic profiles according to their cyanosis status. METHODS: The study recruited 70 pediatric patients younger than 12 months who were undergoing surgery for CHD. Patients were allocated to the acyanotic group or cyanotic group after preoperative evaluations of their diagnosis and peripheral oxygen saturation in the operating room on room air. After inducing anesthesia, blood samples were collected. Hematologic and thromboelastographic profiles were evaluated. RESULTS: Demographic data were similar between groups. The thromboelastographic profiles did not differ significantly between the groups. Hematologic profiles generally did not significantly differ between groups, except hematocrit (Hct) was higher in the cyanotic group (41.7 ± 6.8% vs. 35.3 ± 5.3%, p < 0.001). In patients under 3 months of age, prothrombin time (PT) (cyanotic group 15.4 ± 1.1 s vs. acyanotic group 14.2 ± 2.4 s, p = 0.02) and international normalized ratio (INR) (cyanotic group 1.24 ± 0.12 vs. acyanotic group 1.12 ± 0.27, p = 0.01) were significantly greater in the cyanotic group. CONCLUSION: There were no differences in thromboelastographic profiles between the patients with or without cyanosis, regardless of age. The Hct was higher in the cyanotic group in patients under 12 months, while the PT was prolonged and the INR was increased in the cyanotic group in patients under 3 months.