Romano–Ward syndrome

Romano–Ward syndrome
Schematic representation of normal ECG trace (sinus rhythm), with waves, segments, and intervals labeled.
SymptomsFainting, seizures[1]
ComplicationsSudden death
CausesMutations in the KCNQ1, KCNH2, and SCN5A genes [2]
Diagnostic methodEKG, Exercise test[3]
TreatmentBeta-adrenergic blockade [4]

Romano–Ward syndrome is the most common form of congenital long QT syndrome (LQTS), a genetic heart condition that affects the electrical properties of heart muscle cells. [5] Those affected are at risk of abnormal heart rhythms which can lead to fainting, seizures, or sudden death.[6][2][7] Romano–Ward syndrome can be distinguished clinically from other forms of inherited LQTS as it affects only the electrical properties of the heart, while other forms of LQTS can also affect other parts of the body.

Romano–Ward syndrome is caused by abnormal variants in the genes responsible for producing certain proteins used to transport charged particles (ion channels) within the heart.[5] These abnormalities interfere with the electrical signals that heart cells use to coordinate contractions, causing the heart to take longer to recharge in between beats. The condition is usually diagnosed using an electrocardiogram, but other tests sometimes used include Holter monitoring, exercise testing, and genetic testing.[1] It may be treated using medications such as beta-blockers, an implantable cardioverter-defibrillator, or surgery to disrupt the sympathetic nervous system.[8] Romano–Ward syndrome is estimated to affect 1 in every 7,000 people.

  1. ^ a b Cite error: The named reference Tester in EDH was invoked but never defined (see the help page).
  2. ^ a b "Romano-Ward syndrome". Genetics Home Reference. Archived from the original on 2017-04-01. Retrieved 2017-04-01.
  3. ^ Cite error: The named reference test was invoked but never defined (see the help page).
  4. ^ Cite error: The named reference orph was invoked but never defined (see the help page).
  5. ^ a b Cite error: The named reference Bohnen 2017 was invoked but never defined (see the help page).
  6. ^ "Long QT syndrome 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2018-04-18. Retrieved 2018-04-17.
  7. ^ Alders M, Christiaans I (1993-01-01). "Long QT Syndrome". In Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Ledbetter N, Mefford HC (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301308. Archived from the original on 2017-01-28. Retrieved 2017-09-11.update 2015
  8. ^ Cite error: The named reference :0 was invoked but never defined (see the help page).
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