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