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Cardiogenetic syndromes Dr S Wa Somwe PG Tutorial 27.02.12

Cardiogenetic syndromes Dr S Wa Somwe PG Tutorial 27.02.12. DOWN (Trisomy 21) AVSD TOF VSD Duodenal atresia Hypothyroidism Atlantoaxial instability Strabismus GORD. EDWARD (Trisomy 18). PATAU (Trisomy 13). TURNER (45X0) Coarctation of the aorta

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Cardiogenetic syndromes Dr S Wa Somwe PG Tutorial 27.02.12

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  1. Cardiogenetic syndromes Dr S Wa Somwe PG Tutorial 27.02.12

  2. DOWN (Trisomy 21) • AVSD • TOF • VSD • Duodenal atresia • Hypothyroidism • Atlantoaxial instability • Strabismus • GORD

  3. EDWARD (Trisomy 18)

  4. PATAU (Trisomy 13)

  5. TURNER (45X0) • Coarctation of the aorta • Bicuspid aortic valve • Pulmonary stenosis • Growth • Infertility

  6. DI GEORGE (22q11.2) • Conotruncal defects • Hypocalcaemia • Immune deficiency • GORD • Psychiatric problems • Developmental delay

  7. WILLIAMS (7q11.23) • Supravalvar aortic stenosis • Branch pulmonary stenosis • Behavioural problems • Renal artery stenosis • Hypercalcaemia

  8. NOONAN (PTPN11 gene mutation) • Pulmonary stenosis • HOCM • Undescended testes • Turner habitus • Bleeding diathesis

  9. MARFAN (Fibrillin gene mutation) • Mitral dilatation • Aortic dilatation • Lens dislocation • Growth • Hypermobility

  10. KABUKI (MLL2 mutations) • Various heart defects • Skeletal malformations • Developmental delay • Growth delay • Deafness • Renal malformations

  11. HOLT-ORAM (TBX5 mutation) • ASD • HOCM • Various • Forearm malformations

  12. ALAGILLE (20p deletion) • TOF • Biliary atresia • Vertebral anomalies

  13. GOLDENHAR (Unkown) • VSD • TOF • Various • Costovertebral anomalies • Orofacial malformations • Renal abnormalities

  14. DUCHENNE (Dystrophin gene mutation • DCMO • Muscular weakness • Respiratory failure

  15. BARTH (Tafazzin gene mutation) • DCMO • Neuromuscular problems • Neutropenia • Growth delay • Organic aciduria

  16. Mitochondrial (Gene mutations) • DCMO • Seizures

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