Jervell and Lange-Nielsen syndrome

同

JLNS

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"
3. United States photographer remembered for her portraits of rural workers during the Depression (1895-1965) (同)Dorothea Lange
4. Danish composer (1865-1931) (同)Carl Nielsen, Carl August Nielsen

PrepTutorEJDIC

1. 《語・句・節を対等に結んで》…『と』…,…や…,および / 《数詞を結合して》…『足す』…,…に加えて / …『しかも』…,…して,同時に… / 《時間的に》『そして』,それから,すると(and then) / 《当然の帰結として》…『ので』,…だから(and so) / 《おもに話》《命令文などの後で》『そうすれば』,そうしたら / 《追加・強調して》それに,しかも / 《対照的な内容を導いて》ところが,しかし(but) / 《譲歩的に》それなのに,それでいながら / 《A and Bで一体の関係を表して》《単数扱い》 / 《同一語を反復して多数・継続などを表して》 / 《同一の複数名詞を結合して変化・種類などを表して》 / 《話》《「形容詞+and+形容詞」の形で前の形容詞が後に副詞的に働く》 / 《話》《「動詞come, goなど+and+動詞」の形でandとその後の動詞が不定詞の働きをして》 / 《「動詞+and+動詞」の形で後の動詞が現在分詞の意を表して》 / 《話》《文頭において前の質問・意見などに同意を示して》そうとも,そして(Yes!and) / 《話》《文頭に置いて驚き・疑念・非難などを表して》ほんとうに;…なのに
2. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
3. (次にくる語の発音が母音で始まるときに用いる) / (子音[h]で始まり第1音節に強勢のない語の場合はanを用いることがある.ただし,この場合は[h]を発音しない)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/08/18 01:47:10」(JST)

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Jervell and Lange-Nielsen syndrome
Classification and external resources
ICD-9	426.82
OMIM	220400
DiseasesDB	7249
MeSH	D029593
GeneReviews	Jervell and Lange-Nielsen Syndrome

Jervell and Lange-Nielsen syndrome (JLNS) is a type of long QT syndrome, associated with severe, bilateral hearing loss. Long QT syndrome causes the cardiac muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats, called arrhythmias, can lead to fainting, seizures, or sudden death. It was first described by Anton Jervell and Fred Lange-Nielsen in 1957.

Genetic prevalence

Jervell and Lange-Nielsen syndrome has an autosomal recessive pattern of inheritance.

This condition is an autosomal recessive disorder that affects an estimated 1.6 to 6 in 1 million children, and is responsible for less than 10 percent of all cases of long QT syndrome. It has a markedly higher incidence in Norway and Sweden, up to 1:200,000. Mutations in the KCNE1 and KCNQ1 genes cause Jervell and Lange-Nielsen syndrome. The proteins produced by these two genes work together to form a potassium channel that transports positively charged potassium ions out of cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of the inner ear and cardiac muscle.

About 90 percent of cases of Jervell and Lange-Nielsen syndrome are caused by mutations in the KCNQ1 gene. KCNE1 mutations are responsible for the remaining 10 percent of cases. Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels. These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to the hearing loss and irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome.

Treatment

JLNS patients with KCNQ1 mutations are particularly prone to pathological lengthening of the QT interval, which predisposes them to episodes of Torsades de pointes and sudden death. In this context if the patient has had syncopal episodes or history of cardiac arrest, an implantable cardiac defibrillator should be used in addition to a beta blocker such as propranolol.

References

External links

This article incorporates public domain text from The U.S. National Library of Medicine

• GeneReview/NIH/UW entry on Jervell and Lange-Nielsen Syndrome

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 先天性および後天性ＱＴ延長症候群の遺伝学 genetics of congenital and acquired long qt syndrome
• 2. 先天性QT延長症候群の臨床的特徴 clinical features of congenital long qt syndrome
• 3. 小児における聴覚障害：病因 hearing impairment in children etiology
• 4. 先天性ＱＴ延長症候群の予後およびマネージメント prognosis and management of congenital long qt syndrome
• 5. 先天性ＱＴ延長症候群の診断 diagnosis of congenital long qt syndrome

English Journal

• KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

• Vyas B1, Puri RD1, Namboodiri N2, Nair M3, Sharma D4, Movva S1, Saxena R1, Bohora S5, Aggarwal N6, Vora A7, Kumar J4, Singh T8, Verma IC1.
• American journal of medical genetics. Part A.Am J Med Genet A.2016 Jun;170(6):1510-9. doi: 10.1002/ajmg.a.37636. Epub 2016 Apr 4.
• Long QT syndrome type 1 (LQT1) is the most common type of all Long QT syndromes (LQTS) and occurs due to mutations in KCNQ1. Biallelic mutations with deafness is called Jervell and Lange-Nielsen syndrome (JLNS) and without deafness is autosomal recessive Romano-Ward syndrome (AR RWS). In this prospe
• PMID 27041150

• Two Cases of LQT Syndrome with Malignant Syncope after Switch from Propranolol to Bisoprolol.

• Kesek M1, Rydberg A2, Jensen SM1.
• Pacing and clinical electrophysiology : PACE.Pacing Clin Electrophysiol.2016 Mar;39(3):305-6. doi: 10.1111/pace.12783. Epub 2015 Dec 3.
• Propranolol in slow-release form has been the first-line treatment in long QT (LQT) until it was withdrawn from the market. We describe two cases where a switch to bisoprolol resulted in worsening of arrhythmia control: A man with LQT2, asymptomatic on propranolol, experienced syncope after switchin
• PMID 26548443

• QTc prolongation in patients with hearing loss: Electrocardiographic and genetic study.

• Sanecka A1, Biernacka EK, Szperl M, Sosna M, Mueller-Malesińska M, Kozicka U, Baranowski R, Kosiec A, Łazarczyk H, Skarżyński H, Hoffman P, Bieganowska K, Piotrowicz R.
• Cardiology journal.Cardiol J.2016;23(1):34-41. doi: 10.5603/CJ.a2015.0062. Epub 2015 Sep 28.
• BACKGROUND: The aim of the study was to determine, whether electrocardiogram (ECG) screening could reduce the risk of sudden cardiac death in patients with hearing loss through the early diagnosis of Jervell and Lange-Nielsen syndrome and the introduction of the therapy.METHODS: One thousand and eig
• PMID 26412604

Japanese Journal

• Genetic and Clinical Advances in Congenital Long QT Syndrome

• Circulation Journal 78(12), 2827-2833, 2014
• NAID 130004693853

• KCNQ1変異マウスにおける単相性活動電位と心電図記録を用いた心室再分極過程の評価

• 心電図 = Electrocardiology 29(3), 200-205, 2009-06-04
• NAID 10026293074

• A Novel Mutation Associated With Jervell and Lange-Nielsen Syndrome in a Japanese Family

• Circulation journal : official journal of the Japanese Circulation Society 72(5), 687-693, 2008-04-20
• NAID 110006680543

Related Links

• Jervell and Lange-Nielsen syndrome - Genetics Home Reference

Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart ...

• GRJ ジャーベル・ランゲ-ニールセン症候群

GRJ top ＞ 遺伝子疾患情報リスト ジャーベル・ランゲ-ニールセン症候群 (Jervell and Lange-Nielsen Syndrome) [Cardioauditory Syndrome of Jervell and Lange-Nielsen,JLNS,Surdo Cardiac Syndrome] [Includes: Long QT Syndrome 1 ...

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Jervell and Lange-Nielsen syndrome

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ジャーヴェル・ランゲニールセン症候群、Jervell and Lange-Nielsen症候群、ジェルベル・ランゲニールセン症候群

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