cardiogenetic syndromes dr s wa somwe pg tutorial 27.02.12
TRANSCRIPT
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• Bicuspid aortic valve• Pulmonary stenosis
• Growth• Infertility
DI GEORGE (22q11.2)• Conotruncal defects
• Hypocalcaemia• Immune deficiency• GORD• Psychiatric problems• Developmental delay
WILLIAMS (7q11.23)
• Supravalvar aortic stenosis• Branch pulmonary stenosis
• Behavioural problems• Renal artery stenosis• Hypercalcaemia
NOONAN (PTPN11 gene mutation)
• Pulmonary stenosis• HOCM
• Undescended testes• Turner habitus• Bleeding diathesis
MARFAN (Fibrillin gene mutation)
• Mitral dilatation• Aortic dilatation
• Lens dislocation• Growth• Hypermobility
KABUKI (MLL2 mutations)
• Various heart defects
• Skeletal malformations • Developmental delay• Growth delay• Deafness• Renal malformations
HOLT-ORAM (TBX5 mutation)
• ASD• HOCM• Various
• Forearm malformations
ALAGILLE (20p deletion)
• TOF
• Biliary atresia• Vertebral anomalies
GOLDENHAR (Unkown)
• VSD• TOF• Various
• Costovertebral anomalies• Orofacial malformations• Renal abnormalities
DUCHENNE (Dystrophin gene mutation
• DCMO
• Muscular weakness• Respiratory failure
BARTH (Tafazzin gene mutation)
• DCMO
• Neuromuscular problems• Neutropenia• Growth delay• Organic aciduria
Mitochondrial (Gene mutations)
• DCMO
• Seizures
POMPES (GAA gene mutations)
• Cardiomegaly• Cardiomyopathy
• Hepatomegaly• Macroglossia• Weakness• Respiratory distress
HURLER (Lysosomal storage)
• Cardiomegaly
• Mental retardation• Dwarfism• Hepatosplenomegaly
LONG QT (Multiple channelopathies)
• Sudden death• yncope• Torsades de pointe
• Deafness