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Orphanet Journal of Rare Diseases Oct 2008Transposition of the great arteries (TGA), also referred to as complete transposition, is a congenital cardiac malformation characterised by atrioventricular concordance... (Review)
Review
Transposition of the great arteries (TGA), also referred to as complete transposition, is a congenital cardiac malformation characterised by atrioventricular concordance and ventriculoarterial (VA) discordance. The incidence is estimated at 1 in 3,500-5,000 live births, with a male-to-female ratio 1.5 to 3.2:1. In 50% of cases, the VA discordance is an isolated finding. In 10% of cases, TGA is associated with noncardiac malformations. The association with other cardiac malformations such as ventricular septal defect (VSD) and left ventricular outflow tract obstruction is frequent and dictates timing and clinical presentation, which consists of cyanosis with or without congestive heart failure. The onset and severity depend on anatomical and functional variants that influence the degree of mixing between the two circulations. If no obstructive lesions are present and there is a large VSD, cyanosis may go undetected and only be perceived during episodes of crying or agitation. In these cases, signs of congestive heart failure prevail. The exact aetiology remains unknown. Some associated risk factors (gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, maternal use of antiepileptic drugs) have been postulated. Mutations in growth differentiation factor-1 gene, the thyroid hormone receptor-associated protein-2 gene and the gene encoding the cryptic protein have been shown implicated in discordant VA connections, but they explain only a small minority of TGA cases.The diagnosis is confirmed by echocardiography, which also provides the morphological details required for future surgical management. Prenatal diagnosis by foetal echocardiography is possible and desirable, as it may improve the early neonatal management and reduce morbidity and mortality. Differential diagnosis includes other causes of central neonatal cyanosis. Palliative treatment with prostaglandin E1 and balloon atrial septostomy are usually required soon after birth. Surgical correction is performed at a later stage. Usually, the Jatene arterial switch operation is the procedure of choice. Whenever this operation is not feasible, adequate alternative surgical approach should be implemented. With the advent of newer and improved surgical techniques and post operative intensive care, the long-term survival is approximately 90% at 15 years of age. However, the exercise performance, cognitive function and quality of life may be impaired.
Topics: Adolescent; Cyanosis; Diagnosis, Differential; Echocardiography; Female; Humans; Infant, Newborn; Male; Risk Factors; Transposition of Great Vessels
PubMed: 18851735
DOI: 10.1186/1750-1172-3-27 -
Current Pediatric Reviews 2019Breath-holding spells are common, frightening, but fortunately benign events. Familiarity with this condition is important so that an accurate diagnosis can be made. (Review)
Review
BACKGROUND
Breath-holding spells are common, frightening, but fortunately benign events. Familiarity with this condition is important so that an accurate diagnosis can be made.
OBJECTIVE
To familiarize physicians with the clinical manifestations, diagnosis, evaluation, and management of children with breath-holding spells.
METHODS
A PubMed search was completed in Clinical Queries using the key term "breath-holding spells". The search strategy included meta-analyses, randomized controlled trials, clinical trials, observational studies, and reviews. Only papers published in the English literature were included in this review. The information retrieved from the above search was used in the compilation of the present article.
RESULTS
Breath-holding spells affect 0.1 to 4.6% of otherwise healthy young children. The onset is usually between 6 and 18 months of age. The etiopathogenesis is likely multifactorial and includes autonomic nervous system dysregulation, vagally-mediated cardiac inhibition, delayed myelination of the brain stem, and iron deficiency anemia. Breath-holding spells may be cyanotic or pallid. The former are usually precipitated by anger or frustration while the latter are more often precipitated by pain or fear. In the cyanotic type, the child usually emits a short, loud cry, which leads to a sudden involuntary holding of the breath in forced expiration. The child becomes cyanosed, rigid or limp, followed by a transient loss of consciousness, and a long-awaited inspiration and resolution of the spell. In the pallid type, crying may be minimal or "silent". The apneic period in the pallid type is briefer than that in the cyanotic type prior to the loss of consciousness and posture. The episode in the pallid type then proceeds in the same manner as a cyanotic spell except that the child in the pallid type develops pallor rather than cyanosis. In both types, the entire episode lasts approximately 10 to 60 seconds. The spells usually disappear spontaneously by 5 years of age.
CONCLUSION
Although breath-holding spells are benign, they can be quite distressing to the parents. Confident reassurance and frank explanation are the cornerstones of treatment. Underlying cause, if present, should be treated. Interventions beyond iron supplementation may be considered for children with severe and frequent breath-holding spells which have a strong impact on the lifestyle of both the child and family.
Topics: Apnea; Breath Holding; Child; Child, Preschool; Cyanosis; Diagnosis, Differential; Female; Humans; Infant; Male; Pediatrics
PubMed: 30421679
DOI: 10.2174/1573396314666181113094047 -
BMJ Case Reports May 2014
Topics: Adult; Chilblains; Cold Temperature; Cyanosis; Female; Fingers; Humans
PubMed: 24849644
DOI: 10.1136/bcr-2014-203732 -
British Medical Journal Mar 1955
Topics: Cyanosis; Hematologic Diseases; Hemoglobins; Humans; Sulfhemoglobinemia; Sulfur
PubMed: 14351760
DOI: No ID Found -
Minerva Anestesiologica Jun 2007We report a case of a male patient who underwent splenectomy for idiopathic thrombocytopenic purpura. Oxygen saturation was 92% by pulse oximetry and cyanosis was...
We report a case of a male patient who underwent splenectomy for idiopathic thrombocytopenic purpura. Oxygen saturation was 92% by pulse oximetry and cyanosis was apparent during the perioperative period. Methemoglobin (metHb) levels were 10.4%. After removal of the tracheal tube, intravenous methylene blue (1 mg/kg) was administered because of persistently low SpO2 levels (87%). During preanesthetic evaluation, the patient did not inform the anesthesiologist that he had been taking dapsone.
Topics: Cyanosis; Humans; Male; Methemoglobinemia; Middle Aged; Oximetry; Perioperative Care; Purpura, Thrombocytopenic, Idiopathic; Splenectomy
PubMed: 17464271
DOI: No ID Found -
BMJ Case Reports Sep 2015A previously well 4-year-old boy presented to the emergency room with progressive cyanosis, pallor and vomiting over the last 5 h. Oxygen saturation on pulse oximetry...
A previously well 4-year-old boy presented to the emergency room with progressive cyanosis, pallor and vomiting over the last 5 h. Oxygen saturation on pulse oximetry was 87-89% despite 9 L/min of supplemental oxygen. He was tachypnoeic and had a systolic heart murmur, with no other findings on clinical examination. In his medical history, there was record of a restrictive atrial septal defect, with a normal echocardiogram from 3 years before. He had no relevant family history. His shoes appeared to have been recently painted, which raised the suspicion of methaemoglobinaemia, presumptively caused by aniline-containing shoe dye. The shoes were removed promptly and his feet washed profusely. After confirming the diagnosis, methylene blue was started. The level of methaemoglobin decreased rapidly and the boy made a full recovery.
Topics: Child, Preschool; Cyanosis; Enzyme Inhibitors; Ethanol; Humans; Male; Methemoglobinemia; Methylene Blue; Oximetry; Paint; Shoes; Tachypnea; Treatment Outcome; Vomiting
PubMed: 26338243
DOI: 10.1136/bcr-2015-210619 -
International Journal of Environmental... Oct 2022Over the years, forensic pathology has registered the spread of new methods of suicide, such as the ingestion of sodium nitrite. Sodium nitrite causes increased... (Review)
Review
BACKGROUND
Over the years, forensic pathology has registered the spread of new methods of suicide, such as the ingestion of sodium nitrite. Sodium nitrite causes increased methemoglobin, resulting in systemic hypoxia, metabolic acidosis, and cyanosis. Since sodium nitrite is a preservative, the ingestion of foods containing an excessive amount of this substance can also cause acute intoxication up to death. The present review is aimed at guiding health professionals in the identification and management of sodium-nitrite-related intoxications and deaths.
METHODS
A systematic literature search was carried out on PubMed by following the PRISMA statement's criteria. A total of 35 studies with 132 cases were enrolled, and the data were cataloged in Microsoft Excel. To establish the causal correlation between sodium nitrite ingestion and death, the Naranjo Adverse Drug Reaction Probability Scale was used.
RESULTS
In addition to the small number of cases that have currently been published, the study demonstrated that there was a general methodological discrepancy in the diagnostic process. However, some interesting results have emerged, especially in post-mortem diagnostics.
CONCLUSION
Sodium-nitrite-related deaths represent a challenge for forensic pathologists; therefore, it is important to promptly recognize the essential features and perform the necessary and unrepeatable examinations for the correct diagnosis of the cause of death.
Topics: Humans; Sodium Nitrite; Methemoglobinemia; Cyanosis; Suicide; Sodium
PubMed: 36360874
DOI: 10.3390/ijerph192113996 -
The Israel Medical Association Journal... Dec 2014
Topics: Cyanosis; Diagnosis, Differential; Dyspnea; Hemoglobinopathies; Hemoglobins, Abnormal; Humans; Mutation; Oximetry; Oxygen
PubMed: 25630210
DOI: No ID Found -
Canadian Family Physician Medecin de... Feb 2015I have children in my clinic who experience seizurelike episodes in which they cry and hold their breath to the point of cyanosis and loss of consciousness. Their...
QUESTION
I have children in my clinic who experience seizurelike episodes in which they cry and hold their breath to the point of cyanosis and loss of consciousness. Their examination or investigation findings are normal and referral to a pediatric specialist results in no further investigation. Are breath-holding spells common, and what type of investigation is needed?
ANSWER
A breath-holding spell is a benign paroxysmal nonepileptic disorder occurring in healthy children 6 to 48 months of age. The episodes start with a provocation such as emotional upset or minor injury, and might progress to breath holding, cyanosis, and syncope. The episodes are extremely frightening to watch but have benign consequences. Once a clinical diagnosis is made, it is recommended to conduct an electrocardiogram and to rule out anemia, but no further investigation or referral is warranted.
Topics: Anemia; Apnea; Cyanosis; Electrocardiography; Female; Humans; Infant; Male; Stress, Psychological; Unconsciousness
PubMed: 25676645
DOI: No ID Found -
Annals of Cardiac Anaesthesia 2017The systemic to pulmonary artery shunts are done as palliative procedures for cyanotic congenital heart diseases ranging from simple tetralogy of Fallots... (Review)
Review
The systemic to pulmonary artery shunts are done as palliative procedures for cyanotic congenital heart diseases ranging from simple tetralogy of Fallots (TOFs)/pulmonary atresia (PA) to complex univentricular hearts. They allow growth of pulmonary arteries and maintain regulated blood flow to the lungs till a proper age and body weight suitable for definitive corrective repair is reached. We have reviewed the BT shunt with its anaesthtic considerations and management of associated complications.
Topics: Blalock-Taussig Procedure; Cyanosis; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Palliative Care; Pulmonary Artery; Tetralogy of Fallot
PubMed: 28701598
DOI: 10.4103/aca.ACA_80_17