A site for medical students - Practical,Theory,Osce Notes

Somatic abnormalities in congenital heart disease

  • Polydactyly and syndactyly  is seen in VSD
  • Arachnodactyly - Long thin fingers is seen in ASD
  • Atrio digital anomaly-  fingerisation of thumb and ASD is called Holt oram syndrome
  • Hypertelorism is an increased  interpupillary distance observed in  Pulmonary stenosis
  • Mongolism is associated with endocardial cushion defect/ VSD

Turner syndrome
It is associated with
  • Dwarfism
  • Primary amenorrhoca 
  • Coarctation of aorta.
Noonan syndrome
 It is characterised by
  • Triangular facies
  • Somatic features of Turner 
  • Pulmonary stenosis
Ellis-Van-Creveld syndrome
It is characterised by
  • Dwarfism
  • Chondroectodermal dysplasia  
  • VSD
Williams syndrome 
It is characterised by
  • Elfin facies 
  • Mental retardation
  • Hypercalcemia 
  • Supravalvular AS
Pierre-Robin syndrome 
  • Micrognathia,
  • Glossoptosis 
  • Coarctation of aorta
Marfan syndrome
  • Dissecting aneurysm,
  • ASD
  • MVP
  • AR
TAR syndrome 
  • Thrombocytopenia
  • Absent radius
  • ASD.