Holt-Oram syndrome
Holt-Oram syndrome
Holt-Oram syndrome – all are true except
[A] Autosomal dominant disorder
[B] Upper limb abnormalities
[C] Can progress to complete heart block
[D] Also called as Thrombocytopenia-absent radii syndrome
Holt-Oram syndrome
- Congenital heart malformations – most commonly ostium secundum atrial septal defect (ASD) and ventricular septal defect (VSD)
- Heart-hand syndrome
- Autosomal dominant
- Complete penetrance for upper-limb abnormalities
- 75% penetrance for cardiac defects
- Triphalangeal thumb
- Radius aplasia or hypoplasia
- Increased risk for cardiac conduction abnormalities
- Can progress to complete heart block
Pregnancy With Autoimmune Disorders – FEMELIFE
Pregnancy with autoimmune disorders is a double jeopardy situation where the mother and fetus both are at risk.