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MeSH Review:

Romano-Ward Syndrome

Ohzeki, T. et al., Priori, S.G. et al., Donger, C. et al., Casimiro, M.C. et al., Matsuhashi, H. et al., et al.

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Disease relevance of Romano-Ward Syndrome

Mutations of the KVLQT1 gene, a cardiac potassium channel, generate two allelic diseases: the Romano-Ward syndrome, inherited as a dominant trait, and the Jervell and Lange-Nielsen syndrome, inherited as an autosomal recessive trait [1].
BACKGROUND: KVLQT1, the gene encoding the alpha-subunit of a cardiac potassium channel, is the most common cause of the dominant form of long-QT syndrome (LQT1-type), the Romano-Ward syndrome (RWS) [2].
Probucol administration of 4 weeks produced torsades de pointes associated with exacerbated QT interval prolongation in a 36-year-old woman with Romano-Ward syndrome [3].

High impact information on Romano-Ward Syndrome

Both autosomal dominant LQT (Romano-Ward syndrome) and autosomal recessive LQT (Jervell and Lange-Nielsen syndrome, JLNS) have been reported [4].
Patients with mutations in KCNQ1 may show only the cardiac defect (Romano-Ward syndrome or RWS) or may also have severe deafness (Jervell and Lange-Nielsen syndrome or JLNS) [5].
We have examined the SCN5A gene in 88 index cases with LQTS, including four with Jervell and Lange-Nielsen syndrome and the remainder with Romano-Ward syndrome [6].
Our case is a 13-year-old boy with Romano-Ward syndrome accompanied by IDDM [7].
Successful management of cesarean section in a patient with Romano-Ward syndrome using landiolol, a selective and short-acting beta1 receptor antagonist [8].

Chemical compound and disease context of Romano-Ward Syndrome

Judging from the fact, propranolol may be the first to be administered among a variety of anti-arrhythmic agents in the Romano-Ward syndrome [9].

Biological context of Romano-Ward Syndrome

Long QT syndrome (Romano-Ward syndrome) and insulin-dependent diabetes mellitus (IDDM) have been documented as being linked with gene(s) on chromosome 11p although concurrence of the two disorders has not been reported [7].

Gene context of Romano-Ward Syndrome

Epilepsy: a presentation of the Romano-Ward syndrome [10].

References

A recessive variant of the Romano-Ward long-QT syndrome? Priori, S.G., Schwartz, P.J., Napolitano, C., Bianchi, L., Dennis, A., De Fusco, M., Brown, A.M., Casari, G. Circulation (1998) [Pubmed]
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Donger, C., Denjoy, I., Berthet, M., Neyroud, N., Cruaud, C., Bennaceur, M., Chivoret, G., Schwartz, K., Coumel, P., Guicheney, P. Circulation (1997) [Pubmed]
Probucol-induced QT prolongation and torsades de pointes. Matsuhashi, H., Onodera, S., Kawamura, Y., Hasebe, N., Kohmura, C., Yamashita, H., Tobise, K. Jpn. J. Med. (1989) [Pubmed]
Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. Chen, Q., Zhang, D., Gingell, R.L., Moss, A.J., Napolitano, C., Priori, S.G., Schwartz, P.J., Kehoe, E., Robinson, J.L., Schulze-Bahr, E., Wang, Q., Towbin, J.A. Circulation (1999) [Pubmed]
Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans. Casimiro, M.C., Knollmann, B.C., Yamoah, E.N., Nie, L., Vary, J.C., Sirenko, S.G., Greene, A.E., Grinberg, A., Huang, S.P., Ebert, S.N., Pfeifer, K. Genomics (2004) [Pubmed]
Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. Wattanasirichaigoon, D., Vesely, M.R., Duggal, P., Levine, J.C., Blume, E.D., Wolff, G.S., Edwards, S.B., Beggs, A.H. Am. J. Med. Genet. (1999) [Pubmed]
Long QT syndrome with insulin-dependent diabetes mellitus: contiguous gene syndrome on chromosome 11p. Ohzeki, T., Tamura, A., Hanaki, K., Kohno, Y., Urashima, H., Okuda, H., Ogihara, Y., Shiraki, K., Utsunomiya, Y., Yazaki, Y. J. Intern. Med. (1993) [Pubmed]
Successful management of cesarean section in a patient with Romano-Ward syndrome using landiolol, a selective and short-acting beta1 receptor antagonist. Kubo, K., Murao, K., Nakao, S., Kanoda, T., Yamada, M., Shingu, K. Journal of anesthesia. (2005) [Pubmed]
QT prolongation and syncopal attacks. A case of the Romano-Ward syndrome. Hanazono, N., Tanaka, R. Japanese heart journal. (1975) [Pubmed]
Epilepsy: a presentation of the Romano-Ward syndrome. Ballardie, F.W., Murphy, R.P., Davis, J. British medical journal (Clinical research ed.) (1983) [Pubmed]

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