HOLT- ORAM SYNDROME

(HEART-HAND SYNDROME)

Holy-Oram syndrome is a genetic disorder in which aplasia or hypoplasia of digital rays and/or radius, associated with congenital heart disease.

It is inherited as an autosomal dominant disorder with 100% penetrance and variable expression (1). Gene localization 12q12.

Sporadic cases are thought to represent new gene mutations (40% of cases) (2).

ULTRASOUND

• Aplasia / hypoplasia of the radius (frequently asymmetric). Occasionally ulnar aplasia.
• "Fingerized" hypoplastic thumb, absent thumb, syndactyly, clinodactyly.
• Triphalangeal thumb (also seen in Aase syndrome and Nager syndrome).
• Slender hypoplastic carpals and metacarpals.
• Hypoplastic clavicles.
• Cervical scoliosis.
• Vertebral defects.
• Congenital heart defect (secundum type ASD, VSD, Tetralogy of Fallot, coarctation of the aorta, persistent left SVC, hypoplastic left heart syndrome, anomalous pulmonary venous return) (3,4).
• Intermittent cardiac arrhythmia.
• Bradycardia.
• Hypertelorism.

REFERENCES

1. Gladstone I, Sybert VP. Holt-Oram syndrome: penetrance of the gene and lack of maternal effect. Clin Genet 1982;21:103.
2. Cox H, Viljoen D, Versfeld G et.al. Radial rat defects and associated anomalies. Clin Genet 1989;35:322-330.
3. Zhang KZ, Sun QB, Tsung OC. Holt-Oram syndrome in China: A collective review of 18 cases. Am Heart J 1986;111:573-577.
4. Glauser TA, Zackai E, Weinberg P, Clancy R. Holy-Oram syndrome associated with hypoplastic left heart syndrome. Clin Genet 1989;36:69-72.