Profound Cyanosis Research Articles

Can Isolated Discordant Atrioventricular Connections Survive Without Interatrial or Interventricular Shunt?

Clinical presentation of isolated discordant atrioventricular connections is akin to transposition of the great arteries. In the absence of a significant intracardiac shunt, profound cyanosis is expected at birth. We report one such 5-month-old infant who had only mild cyanosis. The left-sided tricuspid valve straddled the interventricular septum with a closed interventricular communication, a type of "Double Outlet Left Atrium with three atrioventricular valves," which provided the necessary "left to right" shunt while severe regurgitation through the straddling part and a patent ductus arteriosus provided the effective pulmonary blood flow.

Common pulmonary vein atresia.

A 4-hour-old infant with profound cyanosis on an alprostadil infusion was urgently transferred to Rady Children's Hospital with suspected CHD. Upon arrival, urgent echocardiography was performed but could not confirm the presence of discrete pulmonary veins or pulmonary venous drainage. Given the difficulty in delineating the anatomy, a cardiac CT scan was performed and demonstrated a nearly atretic common pulmonary vein with multiple small collaterals that drained to systemic veins. Due to the high risk of mortality associated with operative repair, the decision was made to proceed with compassionate withdrawal of care. The described anatomy of common pulmonary vein atresia remains rare, and to our knowledge, fewer than 40 cases have been reported in the literature. Albeit rare, common pulmonary vein atresia should be considered in the differential diagnosis of a severely cyanotic neonate.

Fontan operation at less than 3 years of age is not a risk factor for long-term failure.

The age at which the Fontan operation is performed varies globally. Over the last decade, the median age of patients having the Fontan in Australia and New Zealand has been 4.6 years, including 6% of patients younger than 3 years. Long-term outcomes of an early Fontan operation are unclear and are described in this study. Patients from the Australian and New Zealand Fontan Registry were grouped by age at Fontan. A Fontan before 3 years (early Fontan) was compared to the combined second and third quartiles by age at surgery in the Registry (3.6-6.1 years; control). Outcomes included Fontan failure (death, transplant, New York Heart Association functional group III/IV heart failure, Fontan takedown or conversion, protein losing enteropathy and plastic bronchitis), arrhythmias, thromboembolism and reinterventions. A total of 191 patients who had early Fontan operations were compared to 781 controls. Profound or progressive cyanosis was noted more frequently in the early than in the control group (63% vs 23%; P < 0.001). The early group was followed up for a median 22.1 years. The incidence of long-term failure was similar between the 2 groups (early, 1.08 failures per 100 patient-years of follow-up vs control, 0.99; log-rank P = 0.79). Adjusted for risk factors, early age at Fontan was not a risk factor for long-term failure [hazard ratio (HR) 1.16, 95% confidence interval (CI) 0.77-1.76; P = 0.48], new-onset arrhythmia (HR 0.93, 95% CI 0.63-1.39; P = 0.73), thromboembolism (HR 0.50, 95% CI 0.28-0.91; P = 0.024) or reintervention (HR 1.08, 95% CI 0.80-1.45; P = 0.62). Having the Fontan operation at an early age was not a risk factor for short- or long-term adverse outcomes in our cohort.

Transcatheter Occlusion of a Hepatic Vein to left Atrium Fistula: Should we close Venovenous collateral Vessels following Fontan operation?

following the Fontan operation. There are conflicting data regarding the closure of the venovenous collateral (VVC) vessels post-Fontan. The embolization of these VVC in older patients may be associated with decreased survival. We describe a rare fistula draining a right-sided hepatic vein connected to a hepatic venous plexus to a right-sided pulmonary venous atrium in a child with visceral heterotaxy. The patient presented with severe hypoxemia following the Fontan operation. The fistula was successfully occluded by an AMPLATZER™ Vascular Plug II to resolve the hypoxemia and improve the hemodynamic status. Approach to venovenous collaterals in older patients with mild cyanosis after the Fontan operation may differ from that in younger children with severe hypoxemia and intrahepatic VVC. Patients with profound cyanosis due to intrahepatic to atrial connection may benefit from the occlusion of these connections. Percutaneous closure of hepatic to atrial connection with significant hypoxemia following appropriate hemodynamic assessment may be beneficial.

Pheochromocytoma and paraganglioma in Fontan patients: Common more than expected.

Pheochromocytoma and paraganglioma (extra-adrenal pheochromocytoma) are rare neuroendocrine tumors that arise from the neuroendocrine cells. Chronic hypoxia is known as a possible cause, and a strong link between cyanotic congenital heart disease and these tumors has been reported. However, reports of phechromocytoma/paraganglioma in Fontan patients were scarce. We herein report seven cases of phechromocytoma/paraganglioma after Fontan operation at a single tertiary center. We retrospectively reviewed medical records and imaging studies who diagnosed as phechromocytoma/paraganglioma after Fontan operation in Seoul National University Children's Hospital. Seven patients were identified during follow-up after Fontan operation, and the prevalence was 2.5% among Fontan patients greater than 10 years old on active follow-up. Three patients were diagnosed as phechromocytoma and 4 patients as paraganglioma. Median time interval between Fontan operation and diagnosis of pheochromocytoma/paraganglioma was 21.4 years (range, 10.4-29.7 years). Resting percutaneous oxygen saturation varied from 77% to 94%. All patients underwent complete tumor resection. Phechromocytoma recurred in two patients, of whom one patient died at the age of 18 years due to the tumor progression with multiple metastasis and aggravation of heart failure with profound cyanosis. Pheochromocytoma/paraganglioma developed after hepatocellular carcinoma in two patients. Phechromocytoma/paraganglioma could occur in Fontan patients more than expected. Because it is curable by tumor resection during its early phase, early diagnosis and treatment of pheochromocytoma are crucial in Fontan patients not to make hemodynamic deterioration and aggravation of heart failure.

Management of late presentation congenital heart disease.

In many parts of the world, mostly low- and middle-income countries, timely diagnosis and repair of congenital heart diseases (CHDs) is not feasible for a variety of reasons. In these regions, economic growth has enabled the development of cardiac units that manage patients with CHD presenting later than would be ideal, often after the window for early stabilisation - transposition of the great arteries, coarctation of the aorta - or for lower-risk surgery in infancy - left-to-right shunts or cyanotic conditions. As a result, patients may have suffered organ dysfunction, manifest signs of pulmonary vascular disease, or the sequelae of profound cyanosis and polycythaemia. Late presentation poses unique clinical and ethical challenges in decision making regarding operability or surgical candidacy, surgical strategy, and perioperative intensive care management.

Amniotic fluid embolism: a historical perspective in diagnosis and management.

Amniotic fluid embolism (AFE) is a rare and severe obstetrics emergency, and a significant cause of maternal mortality. Since first described by Meyer in 1926, the underlying pathophysiology of AFE has eluded researchers and clinicians (Hecser et al. J Exper Med Surg Res 2008;15:159–63). A 9-year population-based cohort study of AFE in 120 established cases (Kitzpatrick et al. BJOG 2015; in press) confirmed the rarity of the condition, and that it continues to be a leading cause of maternal death. In 1949, Shotton and Taylor published a case of pulmonary embolism by amniotic fluid with a literature review (Shotton et al. J Obstet Gynaecol Br Emp 1949;56:46–53). They described the then contemporary symptoms of sudden and profound shock, dyspnoea, cyanosis, and pulmonary oedema. Onset was thought to occur in labour, concurrent with contractions, or shortly after delivery, with resultant stillbirth and maternal death within minutes to hours. The paper highlights the necessity of maternal autopsy in reaching a conclusive diagnosis, dependent on demonstrating amniotic fluid, containing fetal particulates, in the pulmonary vasculature (Figure 1), but also within uterine and cerebral vessels. Present-day diagnosis increasingly recognises clinical features, in order to exclude other pregnancy-related complications or medical conditions. Early diagnosis may be the best way to improve outcomes and authors of case reports over the last 70 years have been looking for better clues as to how to facilitate diagnosis and improve outcomes. The signs of AFE have remained essentially unchanged over the years: sudden cardiovascular collapse, respiratory distress with severe maternal hypoxia and coagulopathy, with cardiac arrest found to be the main predictor of death or permanent neurological injury. The early papers suggested increased odds of AFE among multigravidae, fetal macrosomia, post-dates pregnancies, and a strong association with violent uterine contractions. Contemporary studies have found an increased incidence in women aged over 35 years, in those presenting with polyhydramnios, eclampsia, or placenta praevia, and following cervical trauma, induction of labour, instrumental vaginal delivery, and caesarean delivery (Conde-Agudelo et al. Am J Obstet Gynecol 2010;201:445.e1–e13), with caesarean section associated with the highest odds ratios for AFE (Kramer et al. Paediatr Perinat Epidemiol 2013;27:436–41). Early and later papers all agree on presentation occurring close to delivery, predominantly after membrane rupture, with contractile pressure gradients accounting for liquor entry into the maternal venous system. The haemodynamic response in true cases of AFE appears to be biphasic, with initial pulmonary hypertension and right ventricular failure, followed by left ventricular failure (Conde-Aguledo et al. Am J Obstet Gynecol 2010;201:445.e1–e13). It remains unclear why only certain women proceed to develop the fatal acute reaction. Suggestions include the volume or type of fluid content exposure, maternal factors, a maternal immune reaction, or a type of anaphylactic reaction. Early responses were limited to the use of morphine, atropine, and oxygen. Although there remains no specific treatment, current management focuses on oxygenation, maintenance of cardiac output, haemorrhage control, and correction of coagulopathy. Promising therapies include selective pulmonary vasodilators and recombinant activated factor VIIa. None declared. Completed disclosure of interests form available to view online as supporting information. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Hypoplastic Left Heart Syndrome and Pulmonary Veno-occlusive Disease in an Infant

This report describes an infant with heterotaxy syndrome and severe hypoplasia of the left heart who presented with profound cyanosis at birth despite a large patent ductus arteriosus. Pulmonary venous return was difficult to demonstrate by echocardiography. Angiography showed total anomalous pulmonary venous return via a plexus that drained through the paravertebral veins and bilateral superior vena cavae. Autopsy confirmed these findings, and histopathology demonstrated severe occlusive changes within the pulmonary veins.

Hypoplastic Left Heart Syndrome: Molecular Consequences of Transcription Factor Mutations

Hypoplastic left heart syndrome (HLHS; OMIM #241550) is characterized by abnormal hypoplasia of the left ventricle and aorta, stenosis or atresia of the aortic arch and mitral valve, an atrial septal defect, and a patent ductus arteriosus. The incidence of this rare disorder is about 1 in every 5,000 live births. These abnormalities lead to a decrease in proper blood flow from the left ventricle to the systemic circulatory system. Failure of the systemic circulation leads to profound cyanosis in patients. Without intervention, this condition is fatal within the first days of life. Studies have indicated that HLHS has a strong genetic basis when compared to other congenital heart defects. We are examining the role of several genes associated with cardiac development by screening exons and partial intronic regions for mutations by direct screening of genomic DNA from HLHS patients. Candidate genes for this study include TBX5, NKX2.5, GATA4, and GJA1 due to the correlation between mutations in these genes and cardiac defects. These results will be compared within a cohort of HLHS patients to determine if there is a genetic basis for their abnormal cardiovascular development. We have identified three mutations in exon 8 of TBX5: Val263Met, Ser276Asn, and Arg279Gln, as well as three variations within intronic regions: c. 148‐19 A/T (Intron 2), c.755‐29 C/T (Intron 7), and c.983‐8 C/T (Intron 8).Funding: Nemours Research Programs and NIH‐INBRE (Delaware)

Outcomes following the Kawashima procedure for single-ventricle palliation in left atrial isomerism

Patients with left atrial isomerism and interrupted inferior vena cava palliated with a superior cavopulmonary connection or Kawashima procedure (KP) have a high incidence of developing pulmonary arteriovenous malformations. The necessity for hepatic vein redirection (HVR) and its timing remains a controversy. We aimed to assess the clinical outcome of patients with left atrial isomerism following a KP. The main end points were death, requirement for HVR and the impact of HVR on oxygen saturation. Retrospective review of 21 patients with a diagnosis of left atrial isomerism, interruption of the inferior vena cava and single-ventricle physiology managed with a KP at a single centre between January 1990 and March 2010. Twenty-one patients had a KP, with 12 subsequently undergoing HVR. There was relatively a constant monthly decrement in the proportion of patients who were free from death or HVR up until 60 months following the KP, with a dramatic increase in the hazard after this time. The Cox proportional hazards regression model demonstrated a reduced early risk for HVR or death in patients who underwent pulmonary artery banding versus arterial shunt as the primary procedure (hazard ratio: 0.10; P = 0.01), and an increased risk with bilateral superior vena cavas (SVCs) (hazard ratio: 3.4; P = 0.04) and age at KP (hazard ratio: 1.02 per month increase in age at KP; P = 0.02). HVR mortality was relatively high with 3 of 12 patients dying in the early postoperative period with profound cyanosis. The timing of HVR after the KP did not influence the postoperative rate of increase in oxygen saturation. These findings confirm that the majority of patients who undergo a KP will require HVR. Patients who are older at the time of the KP or having an initial arterial shunt or bilateral SVCs are at higher risk of HVR or death. The relatively high mortality at HVR was characterized by severe postoperative cyanosis.

SHA 050. Effect of age in patient with acute coronary syndrome in SPACE registry

the other presented at 5 months of age with profound cyanosis and left heart dilatation without congenital heart disease and without lung hypoplasia, both patients underwent successful occlusion of the fistula by amplatzer occluding devices with normalization of saturation without complications at five years of follow up. Conclusion: Diagnosis of large pulmonary fistula is feasible in the fetus and early infancy with excellent outcome by catheter intervention in absence of congenital heart disease or lung hypoplasia.

SHA 049. Large pulmonary arteriovenous malformation antenatal diagnosis and successful closure by interventional catheterization

the other presented at 5 months of age with profound cyanosis and left heart dilatation without congenital heart disease and without lung hypoplasia, both patients underwent successful occlusion of the fistula by amplatzer occluding devices with normalization of saturation without complications at five years of follow up. Conclusion: Diagnosis of large pulmonary fistula is feasible in the fetus and early infancy with excellent outcome by catheter intervention in absence of congenital heart disease or lung hypoplasia.

SHA 051. Clinical features, management, and in-hospital outcomes of patients with central obesity hospitalized with acute coronary syndromes: Results from the saudi project for assessment of coronary events (SPACE) registry

the other presented at 5 months of age with profound cyanosis and left heart dilatation without congenital heart disease and without lung hypoplasia, both patients underwent successful occlusion of the fistula by amplatzer occluding devices with normalization of saturation without complications at five years of follow up. Conclusion: Diagnosis of large pulmonary fistula is feasible in the fetus and early infancy with excellent outcome by catheter intervention in absence of congenital heart disease or lung hypoplasia.

Prehospital thrombolysis of a massive pulmonary embolus

A 999 call was received for a 51-year-old man collapsed at home. The patient was found slumped on the floor, complaining of acute onset of shortness of breath. There was...

Ruptured Tricuspid Valve Papillary Muscle: A Treatable Cause of Neonatal Cyanosis

Severe tricuspid regurgitation resulting from a flail leaflet is a rare cause of neonatal cyanosis. We report two neonates with profound cyanosis and severe tricuspid regurgitation caused by rupture of the papillary muscle supporting the anterior leaflet, without other structural heart defects. Ductal patency could not be established. Repair of the tricuspid valve was performed by reimplantation of the ruptured papillary muscle head, after initial stabilization using extracorporeal membrane oxygenation. Early recognition and treatment of this otherwise fatal condition can be lifesaving.

Life-threatening intoxication with methylene bis(thiocyanate): clinical picture and pitfalls. A case report

BackgroundMethylene bis(thiocyanate) (MBT) is a microbiocidal agent mainly used in industrial water cooling systems and paper mills as an inhibitor of algae, fungi, and bacteria.Case presentationWe describe the first case of severe intoxication following inhalation of powder in an industrial worker. Profound cyanosis and respiratory failure caused by severe methemoglobinemia developed within several minutes. Despite immediate admission to the intensive care unit, where mechanical ventilation and hemodialysis for toxin elimination were initiated, multi-organ failure involving liver, kidneys, and lungs developed. While liver failure was leading, the patient was successfully treated with the MARS (molecular adsorbent recirculating system) procedure.ConclusionIntoxication with MBT is a potentially life-threatening intoxication causing severe methemoglobinemia and multi-organ failure. Extracorporeal liver albumin dialysis (MARS) appears to be an effective treatment to allow recovery of hepatic function.

Extracorporeal membrane oxygenation as a bridge to surgical treatment of flail tricuspid valve in a neonate

A term infant rapidly developed profound cyanosis and metabolic acidosis shortly after an uncomplicated vaginal delivery. Echocardiography identified a flail antero-superior leaflet of the tricuspid valve, which was producing severe tricuspid insufficiency. The clinical state deteriorated despite maximal medical management, and the patient was placed on venoarterial extracorporeal membrane oxygenation. Within twenty-four hours, the metabolic acidosis corrected, inotropic support was discontinued, and the patient was weaned to minimal ventilator settings. Successful repair of the tricuspid valve was performed two days later.

Topical Benzocaine (Hurricaine®) Induced Methemoglobinemia during Endoscopic Procedures in Gastric Bypass Patients

Methemoglobinemia results from oxidation of ferrous to ferric iron in hemoglobin. In addition to a functional anemia, methhemoglobinemia causes the O2-binding affinity of the remaining O2 sites in the hemoglobin tetramer to increase; essentially shifting the oxyhemoglobin dissociation curve to the left and decreasing O2 delivery. Patients develop profound cyanosis unresponsive to O2 when methemoglobin (MHb) levels exceed 10%. It can be lethal if levels exceed 70%. Benzocaine 20% (Hurricaine) spray, commonly used in endoscopy (EGD) can cause methemoglobinemia. We report our experience. Two patients out of >1,000 EGDs in 4 yrs developed methemoglobinemia. Patient 1: 34 F, BMI 46, open distal gastric bypass. Patient 2: 26 F, BMI 49, laparoscopic proximal gastric bypass. Both had nausea and vomiting from stomal stenosis requiring EGD for which benzocaine 20% spray was used. Severe cyanosis (despite pulse oximetry readings of 86% and 89%), dyspnea and tachycardia, were seen within 13 and 7 minutes. They were unresponsive to O2, despite being awake and conversant after complete reversal of sedatives. MHb levels were 35.6% and 18.8% (normal <1%). Patients dramatically improved after 1% methylene blue at 1-2 mg/kg IV over 5 minutes. MHb levels dropped to 2.3% and 0.8 % within 150 and 110 minutes. Neither patient had any evidence of pulmonary embolism or DVT or G6PD deficiency. Topical benzocaine 20% (Hurricaine) spray used in EGDs gets absorbed and can cause methemoglobinemia. Sprays should be limited to 1 second. Prompt treatment with 1% methylene blue IV can be life-saving.

Nocturnal oxygenation during patient-controlled analgesia.

Patient-controlled analgesia (PCA) has become a standard modality for the management of postoperative pain, although anecdotal reports of excessive sedation and respiratory depression impugn its safety. To study the prevalence and severity of nocturnal hypoxemia, we measured arterial oxygen saturation (SpO2) continuously overnight in 32 postoperative patients who were receiving morphine via PCA. To evaluate the potential benefit of providing concurrent supplemental oxygen, the patients breathed oxygen-enriched air the night of surgery and room air the next night. Patients experienced more pain and consumed twice as much morphine the first night. However, breathing supplemental oxygen that night, the nocturnal mean SpO2 was 99%+/-1%, 94%+/-4% (P<0.001), and only four patients had periods of hemoglobin desaturation <90%. In contrast, breathing room air the subsequent night, the mean SpO2 was lower (94%+/-4%; P<0.001), and hypoxemia occurred more frequently and was more severe: 18 patients experienced episodes of SpO2 <90%, 7 patients experienced episodes of SpO2 <80%, and 3 patients experienced episodes of SpO2 <70%. One patient required resuscitation for profound bradypnea and cyanosis, but none suffered permanent sequelae. We conclude that when postoperative patients use PCA at night, hypoxemia can be substantial and oxygenation can be improved by providing supplemental oxygen. Oxygen saturation was measured postoperatively in patients using morphine patient-controlled analgesia. Substantial nocturnal hypoxemia occurred in half of the patients while they breathed room air. The severity of the hypoxemia was reduced when patients received supplemental oxygen.

Bubble contrast echocardiography in detecting pulmonary arteriovenous shunting in children with univentricular heart after cavopulmonary anastomosis

OBJECTIVESWe sought to compare bubble contrast echocardiography and pulmonary angiography in detecting pulmonary arteriovenous malformation (PAVM) in children with cavopulmonary anastomosis (CPA), and to examine anatomic and physiologic variables associated with the development of PAVM.BACKGROUNDDevelopment of PAVM in patients with CPA may cause profound cyanosis. Pulmonary arteriovenous malformation has been traditionally diagnosed by pulmonary angiography with reported incidence of 20% to 25% in patients with CPA.METHODSFourteen patients (age 1.1 to 12.6 years) with any forms of CPA and normal pulmonary venous drainage formed the study population. All patients underwent cardiac catheterization and pulmonary angiography. Bubble contrast echocardiographic studies were performed with injection of 10 ml of agitated saline solution into branch pulmonary arteries. Transthoracic echocardiograms using an apical view were performed to assess the appearance of bubble contrast in the systemic ventricles. We compared the results of pulmonary angiograms and contrast echocardiograms, and findings of contrast echocardiograms between lungs with hepatic venous blood flow and lungs without hepatic venous blood.RESULTSTen of the 14 patients (71%) had positive contrast echocardiographic studies, compared with three (21%) detected by pulmonary angiograms (p = 0.01). No difference was found in pulmonary artery pressure, transpulmonary gradient or presence of heterotaxy syndrome between patients with positive contrast echocardiographic studies and patients with negative studies. However, patients with positive contrast echocardiograms tended to have lower oxygen saturation (81%) and higher hemoglobin (16.4 g/dl) compared with patients with negative studies (88% and 14.7 g/dl, p = 0.10 and p = 0.18 respectively). Patients with Glenn shunt or unidirectional Fontan had higher incidence of PAVM (10/11) compared with patients with classic or lateral tunnel Fontan (0/3, p = 0.01). All 12 lungs with no perfusion of hepatic venous blood had positive contrast echocardiographic studies. Lungs with no hepatic venous blood flow were more likely to develop PAVM compared with lungs with hepatic venous blood flow (12/12 and 3/16 respectively, p < 0.01).CONCLUSIONSBubble contrast echocardiography is more sensitive in detecting PAVM compared with pulmonary angiography. The prevalence of PAVM in patients with CPA may be much higher than what had been reported previously. Lungs with no hepatic venous blood flow are more likely to develop PAVM than lungs with hepatic venous blood flow.