Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report herein a case of 62-year-old woman with hereditary spherocytosis (HS) and congestive heart failure (CHF). Although her history revealed jaundice in the early neonatal period, she had never undergone a physical examination and thus, the diagnosis of HS and CHF was not made until the age of 61 when she complained of dyspnea and palpitations on exertion. The CHF was subsequently found to be related to severe anemia in the presence of underlying heart disease. Splenectomy was performed in an attempt to relieve the severe hemolytic process. Following this, all the symptoms improved without the need for any cardiovascular drugs and she has been well throughout the 34 months follow up.
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PMID:Hereditary spherocytosis with congestive heart failure: report of a case. 832 41

An 18-month-old girl with hereditary spherocytosis underwent closure of the ventricular septal defect, commissurotomy of the pulmonary valve, and patch angioplasty of the pulmonary trunk without previous splenectomy. No serious complications as a result of hemolysis occurred in the perioperative period. Open heart surgery can therefore be safely performed in young children with congenital heart disease and hereditary spherocytosis who have not previously undergone splenectomy.
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PMID:Open heart operation in a child with congenital heart disease and hereditary spherocytosis. 1712 16

Ankyrins are adaptor molecules that in eukaryotic cells form complexes with ion channel proteins, cell adhesion and signalling molecules and components of the cytoskeleton. They play a pivotal role as scaffolding proteins, in the structural anchoring to the muscle membrane, in muscle development, neurogenesis and synapse formation. Dysfunction of ankyrins is implicated in numerous diseases such as hereditary spherocytosis, neurodegeneration of Purkinje cells, cardiac arrhythmia, Brugada syndrome, bipolar disorders and schizophrenia, congenital myopathies and congenital heart disease as well as cancers. Detecting either down- or over-expression of ankyrins and ergo their use as biomarkers can provide a new paradigm in the diagnosis of these diseases. This paper provides an outline of knowledge about the structure of ankyrins, and by making use of recent experimental research studies critically discusses their role in several health disorders. Moreover, therapeutic options utilizing engineered ankyrins, designed ankyrin repeat proteins (DARPins), are discussed.
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PMID:Ankyrins in human health and disease - an update of recent experimental findings. 3254 72

Hemolytic anemia often challenges congenital heart surgery. Hereditary spherocytosis is a rare familial hemolytic anemia. When associated with congenital heart disease, the safe performance of cardiopulmonary bypass becomes a priority. The increased risk of hemolysis during cardiopulmonary bypass could potentially lead to significant secondary organ damage. Till now, only very few reports of successful repair of a congenital heart defect in patients with hereditary spherocytosis have been reported. We report the only case of successful repair of a congenital heart defect in an infant with hereditary spherocytosis.
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PMID:Open heart surgery in an infant with hereditary spherocytosis and a review of literature. 3328 79