Long QTc Syndrome

Question 1

What is the inheritance of Jervell and Lange-Nielsen syndrome?

Answer 1

Autosomal recessive

Question 2

What are the associated medical findings of Jervell and Lange-Nielsen syndrome?

Answer 2

1. Prolonged QTc
2. Profound sensorineural deafness
3. Ventricular tachyarrhythmia
4. High risk of sudden cardiac death

Question 3

What is the pathophysiology of Jervell and Lange-Nielsen Syndrome?

Answer 3

Gene mutation in cardiac potassium channels

Question 4

What are the associated medical findings for Romano-Ward Syndrome?

Answer 4

1. Long QTc
2. Syncope
3. Sudden death
4. Seizures
5. Palpitations with exercise or intense emotions

Question 5

What is the pathophysiology of Romano-Ward syndrome?

Answer 5

Six distinct molecular genotypes

Question 6

what are the recommendations?

Answer 6

1. Family members must be screened once proband diagnosed
2. Consider screening ECG in patients with congenital profound sensorineural deafness
3. High index of suspicion if family history positive for drowning or sudden cardiac death
4. Treat with beta-blockers
5. Avoid high risk situations - vigorous exercise, swimming alone