Sinoatrial Node Dysfunction and Deafness (SANDD)
摘要
Sinoatrial node dysfunction and deafness (SANDD) syndrome is a recently described rare multisystem disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia (Baig et al. 2011). The earliest descriptions of a condition potentially corresponding to SANDD date back to 1967, when Thomas James reported a study involving two families from Michigan. Following the observation of sinus rhythm abnormalities in deaf children, it was proposed that congenital deafness and cardiac arrhythmias may share a common mode of inheritance, although either condition could occur independently among siblings within the same family (James 1967). The disease was then characterized in 2011 by Baig et al., who described severe (71- to 95-dB loss) to profound congenital deafness (greater than 95-dB loss) without vestibular dysfunction, and episodes of syncope since early childhood in siblings of two Pakistani families. Electrocardiographic studies in affected individuals showed resting bradycardia (<35 beats per minute) that was more pronounced nocturnally.