Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hunter's disease is a genetically transmitted defect known to produce mucopolysaccharide infiltration of multiple organ systems. Upper airway obstruction is caused by an enlarged tongue, deformed pharynx, and short, thick neck. Its eventual lethal outcome by the second decade of life is known to result from an infiltrative cardiomyopathy leading to irreversible heart failure. Instead, our recent experience in the care of five patients with this disorder suggests the lethal event is related to progressive obstruction sequentially involving the upper, mid, and lower airway characterized by gradual deformation and collapse of the trachea. Autopsy and histopathologic whole organ sections demonstrate anteroposterior flattening of the trachea and bronchi with submucosal thickening producing structural alterations known only to this disease.
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PMID:Hunter's syndrome: a study in airway obstruction. 310 69

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations.
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PMID:The trisomy 18 syndrome. 2308 40

Upper airway obstruction (UAO) due to adenotonsillar hypertrophy represents one of the rare causes of pulmonary hypertension in children. We report a case of adenotonsillar hypertrophy, managed at pediatric and otorhinolaryngology departments in Bugando Medical Centre (BMC), northwestern Tanzania, with complete remission of symptoms of pulmonary hypertension following adenotonsillectomy. A 17-month-old boy presented with difficulty breathing, dry cough, and noisy breathing since 1 year. He had facial and lower limb oedema with a pan systolic murmur at the tricuspid area, fine crepitations, and tender hepatomegaly. A grade II tonsillar hypertrophy and hypertrophied adenoids were seen on nasal and throat evaluation. A 2D-echocardiography showed grossly distended right atrium and ventricle, dilated pulmonary artery, and grade III tricuspid regurgitation. His final diagnosis was severe pulmonary hypertension with right-sided heart failure due to adenotonsillar hypertrophy. He had complete remission of cardiopulmonary symptoms after adenotonsillectomy and had normal control echocardiography six and twelve months after surgery. Children with symptoms of upper airway obstruction and cardiopulmonary involvement could benefit from routine screening for pulmonary hypertension. Adenotonsillectomy should be considered for possible complete remission of both UAO and cardiopulmonary symptoms.
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PMID:Reversible Severe Pulmonary Hypertension after Adenotonsillectomy: A Case Report of a Child Treated at Bugando Medical Centre, Northwestern Tanzania. 2763 73