J-wave syndromes: Brugada and early repolarization syndromes.
Cardiogenetic syndromes Dr S Wa Somwe PG Tutorial 27.02.12.
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Transcript of Cardiogenetic syndromes Dr S Wa Somwe PG Tutorial 27.02.12.
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Cardiogenetic syndromes
Dr S Wa Somwe
PG Tutorial 27.02.12
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DOWN (Trisomy 21)
• AVSD• TOF• VSD
• Duodenal atresia• Hypothyroidism• Atlantoaxial instability• Strabismus• GORD
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EDWARD (Trisomy 18)
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PATAU (Trisomy 13)
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TURNER (45X0)
• Coarctation of the aorta• Bicuspid aortic valve• Pulmonary stenosis
• Growth• Infertility
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DI GEORGE (22q11.2)• Conotruncal defects
• Hypocalcaemia• Immune deficiency• GORD• Psychiatric problems• Developmental delay
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WILLIAMS (7q11.23)
• Supravalvar aortic stenosis• Branch pulmonary stenosis
• Behavioural problems• Renal artery stenosis• Hypercalcaemia
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NOONAN (PTPN11 gene mutation)
• Pulmonary stenosis• HOCM
• Undescended testes• Turner habitus• Bleeding diathesis
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MARFAN (Fibrillin gene mutation)
• Mitral dilatation• Aortic dilatation
• Lens dislocation• Growth• Hypermobility
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KABUKI (MLL2 mutations)
• Various heart defects
• Skeletal malformations • Developmental delay• Growth delay• Deafness• Renal malformations
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HOLT-ORAM (TBX5 mutation)
• ASD• HOCM• Various
• Forearm malformations
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ALAGILLE (20p deletion)
• TOF
• Biliary atresia• Vertebral anomalies
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GOLDENHAR (Unkown)
• VSD• TOF• Various
• Costovertebral anomalies• Orofacial malformations• Renal abnormalities
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DUCHENNE (Dystrophin gene mutation
• DCMO
• Muscular weakness• Respiratory failure
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BARTH (Tafazzin gene mutation)
• DCMO
• Neuromuscular problems• Neutropenia• Growth delay• Organic aciduria
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Mitochondrial (Gene mutations)
• DCMO
• Seizures
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POMPES (GAA gene mutations)
• Cardiomegaly• Cardiomyopathy
• Hepatomegaly• Macroglossia• Weakness• Respiratory distress
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HURLER (Lysosomal storage)
• Cardiomegaly
• Mental retardation• Dwarfism• Hepatosplenomegaly
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LONG QT (Multiple channelopathies)
• Sudden death• yncope• Torsades de pointe
• Deafness