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Romano-Ward syndrome

Reviewed April 2006

What is Romano-Ward syndrome?

Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The irregular heartbeats can lead to fainting (syncope) or cardiac arrest and sudden death.

How common is Romano-Ward syndrome?

Romano-Ward syndrome is the most common form of inherited long QT syndrome, affecting an estimated 1 in 7,000 people worldwide. The disorder may actually be more common than this estimate, however, because some people never experience any symptoms associated with arrhythmia and therefore may not have been diagnosed.

What genes are related to Romano-Ward syndrome?

Mutations in the KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes cause Romano-Ward syndrome.

The ANK2 gene is associated with Romano-Ward syndrome.

The KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions), such as potassium and sodium, into and out of cells. In cardiac muscle, ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in any of these genes alter the structure or function of these channels, which changes the flow of ions between cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Romano-Ward syndrome.

Unlike most genes related to Romano-Ward syndrome, the ANK2 gene does not provide instructions for making an ion channel. The ANK2 protein, ankyrin-2, ensures that certain other proteins (particularly ion channels) are inserted into the cell membrane appropriately. A mutation in the ANK2 gene likely alters the flow of ions between cells in the heart, which disrupts the heart's normal rhythm. ANK2 mutations can cause a variety of heart problems, including the irregular heartbeat often found in Romano-Ward syndrome. It is unclear whether mutations in the ANK2 gene cause Romano-Ward syndrome or lead to another heart condition with some of the same signs and symptoms.

How do people inherit Romano-Ward syndrome?

This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small percentage of cases result from new mutations in one of the genes described above. These cases occur in people with no history of Romano-Ward syndrome in their family.

Where can I find information about treatment for Romano-Ward syndrome?

You may find information on treatment or management of Romano-Ward syndrome or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about Romano-Ward syndrome?

You may find the following resources about Romano-Ward syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    • Encyclopedia: Arrhythmias (http://www.nlm.nih.gov/medlineplus/ency/article/001101.htm)
    • Health Topic: Arrhythmia (http://www.nlm.nih.gov/medlineplus/arrhythmia.html)
    • Health Topic: Congenital Heart Defects (http://www.nlm.nih.gov/medlineplus/congenitalheartdefects.html)
  • Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&DiseaseID=3284)
  • Additional NIH Resources - National Institutes of Health
    • National Center for Biotechnology Information: Genes and Disease (http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.142)
    • National Heart, Lung, and Blood Institute (http://www.nhlbi.nih.gov/health/dci/Diseases/qt/qt_whatis.html)
  • Educational resources - Information pages
    • American Heart Association (http://www.americanheart.org/presenter.jhtml?identifier=993)
    • Centre for Genetics Education (Australia) (http://www.genetics.com.au/pdf/factsheets/fs55.pdf)
    • Cleveland Clinic (http://www.clevelandclinic.org/heartcenter/pub/guide/disease/electric/longqtsyndrome.htm?index=10494)
    • Heart Rhythm Society (http://www.hrspatients.org/patients/heart_disorders/long_qt_syndrome.asp)
    • KidsHealth from the Nemours Foundation (http://kidshealth.org/teen/diseases_conditions/heart/arrhythmias.html)
    • Madisons Foundation (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,356/)
    • Mayo Clinic (http://www.mayoclinic.org/long-qt-syndrome/)
    • Merck Manual of Medical Information, Second Home Edition (http://www.merck.com/mmhe/sec23/ch266/ch266i.html)
    • Mount Sinai School of Medicine (http://www.mssm.edu/cvi/arrhythmia.shtml)
    • New York Online Access to Health (http://www.noah-health.org/en/blood/disease/specific/arrhythmias.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=768)
  • Patient support - For patients and families
    • Cardiac Arrythmias Research and Education (CARE) Foundation (http://www.longqt.org/)
    • Congenital Heart Information Network (http://www.tchin.org/)
    • National Organization for Rare Disorders (http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Romano+Ward+Syndrome)
    • QTsyndrome.ch (European Long QT Syndrome Information Center) (http://www.qtsyndrome.ch/)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/conghart.html)
    • Sudden Arrhythmia Death Syndromes (SADS) Foundation (http://www.sads.org/)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rws)
  • Gene Tests - DNA tests ordered by healthcare professionals
    • DNA Test: ANK2 gene (LQT4) (http://www.genetests.org/query?testid=116530)
    • DNA Test: KCNE1 gene (LQT5) (http://www.genetests.org/query?testid=115873)
    • DNA Test: KCNE2 gene (LQT6) (http://www.genetests.org/query?testid=116533)
    • DNA Test: KCNH2 gene (LQT2) (http://www.genetests.org/query?testid=116522)
    • DNA Test: KNCQ1 gene (LQT1) (http://www.genetests.org/query?testid=115871)
    • DNA Test: SCN5A gene (LQT3) (http://www.genetests.org/query?testid=116526)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22Romano-Ward+syndrome%22+OR+%22Long+QT+Syndrome%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(Romano-Ward+syndrome[TIAB])+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=2160+Days)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192500)

What other names do people use for Romano-Ward syndrome?

  • RWS
  • Ward-Romano Syndrome
  • WRS

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Romano-Ward syndrome?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding Romano-Ward syndrome?

arrhythmia ; atom ; autosomal ; autosomal dominant ; cardiac ; cardiac arrest ; cell ; cell membrane ; channel ; fainting ; gene ; ions ; ion transport ; long QT syndrome ; LQTS ; mutation ; new mutation ; potassium ; protein ; sign ; sodium ; symptom ; syncope ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Chiang CE. Congenital and acquired long QT syndrome. Current concepts and management. Cardiol Rev. 2004 Jul-Aug;12(4):222-34. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15191637)
  • Emery, Alan E H; Rimoin, David L; Emery & Rimoin's principles and practice of medical genetics.; 4th ed. / edited by David L. Rimoin ... [et al.]; London ; New York : Churchill Livingstone, 2002. p1417-1424.
  • Gene Review: Romano-Ward Syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rws)
  • Modell SM, Lehmann MH. The long QT syndrome family of cardiac ion channelopathies: A HuGE review. Genet Med. 2006 Mar;8(3):143-55. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16540748)
  • Towbin JA, Vatta M. Molecular biology and the prolonged QT syndromes. Am J Med. 2001 Apr 1;110(5):385-98. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11286954)
  • Vincent GM. The Long QT and Brugada syndromes: causes of unexpected syncope and sudden cardiac death in children and young adults. Semin Pediatr Neurol. 2005 Mar;12(1):15-24. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15929461)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2006
Published: May 4, 2009