Holt-Oram syndrome

Eur Rev Med Pharmacol Sci. 2024 Jan;28(1):336-341. doi: 10.26355/eurrev_202401_34921.


Background: Holt-Oram syndrome (HOS) is a rare genetic illness, which concerns disturbances in the appearance of the upper limbs, congenital heart malformations, and cardiac conduction diseases. HOS usually requires the implantation of a pacemaker, because of cardiac conduction disturbances.

Case report: We present the case of a patient with HOS qualified for pacemaker implantation due to overt bradycardia. To prevent the development of heart failure in the future, the His-bundle pacing technique was used. The implantation was successful. In the control, after one year, the man remains in good condition. The pacing was over 90%, and the left ventricular ejection fraction (LVEF) was stable (60%).

Conclusions: So far, there are no reports on which methods of stimulation are required when it comes to patients with HOS. His-bundle pacing technique is a new type of physiological pacing, which can avoid heart failure.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Cardiac Conduction System Disease
  • Heart Defects, Congenital*
  • Heart Failure* / diagnosis
  • Heart Failure* / therapy
  • Heart Septal Defects, Atrial* / genetics
  • Humans
  • Lower Extremity Deformities, Congenital*
  • Stroke Volume
  • Upper Extremity Deformities, Congenital*
  • Ventricular Function, Left / physiology

Supplementary concepts

  • Holt-Oram syndrome