Romano Ward Syndrome

Classification according to ICD-10
I45.8	Other specified cardiac conduction disorders
ICD-10 online (WHO version 2019)

The Romano-Ward syndrome (RWS) is a very rare congenital disease with a combination of QT prolongation and ventricular tachyarrhythmia without congenital hearing loss due to a malfunction of the excitation line.

The disease is the most common variant of the familial long QT syndrome (with about 70%) .

The designation "RWS" stands for the LQTS variants with known genes "LQT1" to "LQT6" and "LQT9 to LQT12" or only for "LQT1" (type I).

Synonyms are: Romano-Ward Long QT Syndrome; QT prolongation syndrome without deafness, hereditary; familial QT syndrome; Pseudo-hypokalemia syndrome; Ward Romano Syndrome

The name refers to the author of the first description from 1963 by the Italian pediatrician Cesarino Romano (1924-2008) and to a description from 1964 by the Irish pediatrician Owen Conor Ward (* 1923).

distribution

The frequency is given as 1 to 5 in 10,000, inheritance is autosomal dominant . Male and female family members are affected with equal frequency.

root cause

The disease is based on at least six molecular-genetic distinguishable gene mutations that affect different ion channels and more or less endanger the affected patient.

Depending on the underlying mutation , the following types can be distinguished:

• LQT1 , mutations in KCNQ1 - gene on chromosome 11 locus p15.5-p15.4
• LQT2 , mutations in the KCNH2 gene on chromosome 7 locus q36.1
• LQT3 , mutations in the SCN5A gene on chromosome 3 locus p22.2
• LQT4 , mutations in the ANK2 gene on chromosome 4 locus q25-q26
• LQT5 , mutations in the KCNE1 gene on chromosome 21 locus q22.12
• LQT6 , mutations in the KCNE2 gene on chromosome 21 locus 22.11
• LQT9 , mutations in the CAV3 gene on chromosome 3 locus p25.3
• LQT10 , mutations in the SCN4B gene on chromosome 11 locus q23.3
• LQT11 , mutations in the AKAP9 gene on chromosome 7 locus q21.2
• LQT12 , mutations in the SNTA1 gene on chromosome 20 locus q11.21

Clinical manifestations

Clinical criteria are:

• syncopal seizures during stress , exertion or cold
• sometimes only under stress QT prolongation (> 500 ms) with tachyarrhythmias (ventricular tachycardia, torsades de pointes and ventricular fibrillation ) up to cardiac arrest
• no numbness

Differential diagnosis

The following are to be distinguished:

• Jervell-Lange-Nielsen Syndrome
• Morgagni-Adams-Stokes fits
• other forms of QT syndrome
• Hypertrophic cardiomyopathy
• Orthostatic dysregulation
• Brugada syndrome
• vasovagal syncope

literature

• EC Hodkinson, AP Hill, JI Vandenberg: The Romano-Ward syndrome – 1964-2014: 50 years of progress. In: Irish medical journal. Volume 107, No. 4, April 2014, pp. 122-124. PMID 24834591 .
• R. Bloise, C. Napolitano, SG Priori: Romano-Ward and other congenital long QT syndromes. In: Cardiovascular drugs and therapy. Volume 16, No. 1, January 2002, pp. 19-23. PMID 12085973 (Review).
• JA Towbin: Molecular genetic aspects of the Romano-Ward long QT syndrome. In: Texas Heart Institute journal. Volume 21, No. 1, 1994, pp. 42-47. PMID 8180509 , PMC 325130 (free full text) (review).
• H. Heidegger, R. von Hugo, J. Plötz: Hereditary prolonged QT interval (Romano Ward Syndrome) in obstetric management. In: Obstetrics and gynecology. Volume 53, No. 3, March 1993, pp. 201-203, doi: 10.1055 / s-2007-1023666 . PMID 8467990 .

Individual evidence

1. ↑ ^{a b} Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
2. ↑ ^{a b c d e} Romano-Ward syndrome. In: Orphanet (Rare Disease Database).
3. ↑ Entry on Romano-Ward syndrome in Flexikon , a Wiki of the DocCheck company
4. ↑ C. Romano, G. Gemme, R. Pongiglione: Aritmie cardiache rare dell'età pediatrica. II. Accessi sincopali per fibrillazione ventricolare parossistica. In: Clin Pediatr (Bologna). 45, 1963, pp. 656-683.
5. ^ OC Ward: A new familial cardiac syndrome in children. In: J Irish Med Assoc. 54, 1964, pp. 103-107.
6. ^ Long QT syndrome 1.  In: Online Mendelian Inheritance in Man . (English)
7. ^ Long QT syndrome 2.  In: Online Mendelian Inheritance in Man . (English)
8. ^ Long QT syndrome 3.  In: Online Mendelian Inheritance in Man . (English)
9. ^ Long QT syndrome 4.  In: Online Mendelian Inheritance in Man . (English)
10. ^ Long QT syndrome 5.  In: Online Mendelian Inheritance in Man . (English)
11. ^ Long QT syndrome 6.  In: Online Mendelian Inheritance in Man . (English)
12. ^ Long QT syndrome 9.  In: Online Mendelian Inheritance in Man . (English)
13. ^ Long QT syndrome 10.  In: Online Mendelian Inheritance in Man . (English)
14. ^ Long QT syndrome 11.  In: Online Mendelian Inheritance in Man . (English)
15. ^ Long QT syndrome 12.  In: Online Mendelian Inheritance in Man . (English)

Web links

• Genetics Home Reference

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !