Short answer · Medically reviewed summary · Last updated: 2026-05-08
Jervell and Lange-Nielsen syndrome is classified under the ICD-10 code I45.81 (Long QT syndrome) and was historically categorized under the ICD-9 code 426.82. These codes reflect the condition's primary clinical manifestation, which is a prolonged QT interval on an electrocardiogram coupled with congenital sensorineural hearing loss. What is Jervell and Lange-Nielsen syndrome? Jervell and Lange-Nielsen syndrome is a rare, life-threatening genetic disorder characterized by a severe form of Long QT syndrome and profound bilateral sensorineural hearing loss.
ICD10 code of Jervell And Lange-Nielsen Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Jervell And Lange-Nielsen Syndrome, with classification details for clinicians, coders and patients.
Jervell and Lange-Nielsen syndrome is classified under the ICD-10 code I45.81 (Long QT syndrome) and was historically categorized under the ICD-9 code 426.82. These codes reflect the condition's primary clinical manifestation, which is a prolonged QT interval on an electrocardiogram coupled with congenital sensorineural hearing loss.
What is Jervell and Lange-Nielsen syndrome?
Jervell and Lange-Nielsen syndrome is a rare, life-threatening genetic disorder characterized by a severe form of Long QT syndrome and profound bilateral sensorineural hearing loss. Because Jervell and Lange-Nielsen syndrome involves significant cardiac electrical instability, patients are at a high risk for syncope and life-threatening ventricular arrhythmias, such as torsades de pointes, which can lead to sudden cardiac death if left unmanaged.
How is Jervell and Lange-Nielsen syndrome inherited?
Jervell and Lange-Nielsen syndrome follows an autosomal recessive inheritance pattern, meaning an affected individual inherits two mutated copies of the causative gene—typically KCNQ1 or KCNE1—one from each parent. Unlike some other forms of LQTS, Jervell and Lange-Nielsen syndrome is distinct because the cardiac phenotype is present from birth and is often more severe due to the biallelic mutations affecting potassium channel function in both the inner ear and the heart.
What are the key clinical features of Jervell and Lange-Nielsen syndrome?
Diagnosis of Jervell and Lange-Nielsen syndrome relies on a combination of clinical evaluations and genetic testing. The primary clinical indicators include:
- Profound congenital sensorineural hearing loss (bilateral).
- A significantly prolonged QT interval on an ECG (often >500 ms).
- Recurrent syncopal episodes, often triggered by physical exertion or emotional stress.
- A family history of early-onset cardiac events or sudden unexplained death.
Next steps
- Consult a pediatric cardiologist or an electrophysiologist to develop a management plan, which often includes beta-blocker therapy or an implantable cardioverter-defibrillator (ICD).
- Engage with a clinical geneticist for family screening, as siblings of someone with Jervell and Lange-Nielsen syndrome have a 25% chance of being affected.
- Join the DiseaseMaps.org community to connect with other families navigating the challenges of this rare condition.
- Maintain a strict avoidance of medications known to further prolong the QT interval.
Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Jervell and Lange-Nielsen syndrome.
- Orphanet: Rare disease database, ORPHA484.
- Online Mendelian Inheritance in Man (OMIM): #220400 (Jervell and Lange-Nielsen syndrome 1).
- SADS Foundation: Information on Long QT Syndrome and inherited cardiac conditions.
