Jervell Lange-Nielsen syndrome

Overview

A rare condition characterized by congenital deafness and a long Q-T interval which is where the heart takes longer than normal to recharge after a heartbeat.

Symptoms

* Conduction deafness * Fainting * Seizures * Pallor * Cyanosis * Short-lived loss of consciousness * Deep sleep * Prolonged Q-T interval * Hyperchromic anemia

Causes

* Vasovagal episode –Most common cause of syncope –May be triggered by heat, fatigue, stress, hunger, alcohol, and severe pain –Associated with diaphoresis, weakness, blurry vision, lightheadedness –Almost always benign * Orthostatic hypotension –Fall in blood pressure upon standing, due to failure of vasoconstrictor reflexes –Precipitated by sudden standing from recumbent position –Often associated with antihypertensive medications (diuretics, vasodilators, α - or β-blockers) and dehydration/hypovolemia –May occur with autonomic disorders (e.g., Shy-Drager syndrome) - Situational syncope –Increased intrathoracic pressure (e.g., cough, micturition, defecation) leads to decreased venous return and resulting diminished blood flow to the brain - Cardiac arrhythmias –Very slow (180 bpm) heart rates may result in decreased cardiac output and resulting diminished blood flow to the brain * Valvular disease –Most commonly due to aortic stenosis * Myocardial disease - Cerebrovascular disease –Usually due to carotid or vertebrobasilar atherosclerosis * Hypoglycemia * Anemia * Seizure * Anxiety attack * Migraine * Medications (e.g., anticholinergics) * CVA * Hemorrhage * Trauma

Treatment

* Identify, treat, and/or refer on the basis of underlying cardiac, neurologic, autonomic or other causes * Vasovagal episode: Rehydrate, treat possible triggers (e.g., relieve pain) * Orthostatic hypotension: Adjust medications, make lifestyle changes (e.g., rise slowly from sitting) * Cardiac arrhythmias: Medical management and/or pacemaker placement * Myocardial disease/valvular disease: Assess severity, consider medical versus surgical treatment * Cerebrovascular disease: Reduce risk factors; consider medical versus surgical treatment * Hypoglycemia: Identify underlying cause; adjust medications and diet to prevent further episodes * Seizures: Adjust medications to prevent seizures; no driving