Long QT syndrome 1

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Other Names: Acquired Susceptibility to Long Qt Syndrome 1, LQT1, Long Qt Syndrome 1, Acquired, Long Qt Syndrome 1, Acquired, Susceptibility to, Long Qt Syndrome Type 1, Long Qt Syndrome-1, Lqt1, Qt Syndrome, Long, Type 1, Romano-Ward long QT syndrome, Romano-Ward syndrome, Rws, Ventricular Fibrillation with Prolonged Qt Interval, Ventricular fibrillation with prolonged QT interval, Ward-Romano Syndrome, Ward-Romano syndrome, Wrs, entricular fibrillation with prolonged QT interval See more

Categories: Congenital and Genetic Diseases, Heart Diseases

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Description

Romano-Ward syndrome is the most common form of inherited long QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is long QT type 1. Long QT type 1 is caused by changes in the KCNQ1 gene. Romano- Ward syndrome is inherited in an autosomal dominant fashion.

Source: GARD Last updated on 05-01-20

Symptoms

Symptoms and their Known Frequencies

100% of people have these symptoms.

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Decreased urinary potassium
Prolonged QTc interval

30%-79% of people have these symptoms.

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Lobulated tongue
Tendonitis
Abnormal T-wave
Sinus bradycardia
Syncope

5%-29% of people have these symptoms.

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Abnormal autonomic nervous system physiology
Cerebral hemorrhage
Abnormal cardiac exercise stress test
Adrenal overactivity
Seizures
Sudden cardiac death
Torsade de pointes

1%-4% of people have these symptoms.

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Multiple mitochondrial DNA deletions
Abnormality of prenatal development or birth
Hypokalemia

An unknown % of people have these symptoms.

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Lethal skeletal dysplasia
Low-set ears
Pectoralis major hypoplasia
Severe intrauterine growth retardation
Pectoral muscle hypoplasia/aplasia
Rod-cone dystrophy
Abnormal autonomic nervous system physiology
Alaninuria
Ectopic ossification
Acetabular dysplasia
Dependency on intravenous nutrition
Pectus excavatum of inferior sternum
Frog-leg posture
Increased urinary cortisol level
Broad forehead
Widow's peak
Inertia
Ventricular fibrillation
Abnormality of the ear
Autosomal dominant inheritance
Prolonged QT interval

Name: Sudden Arrhythmia Death Syndromes Foundation 4527 S 2300 E, Suite 104
Salt Lake City, UT, 84117-4448 , United States Phone: 801-272-3022 Url: http://www.sads.org

Ana Rath and Stéphanie NGUENGANG WAKAP. Prevalence of rare diseases: Bibliographic data », Orphanet Report Series, Rare Diseases collection, January 2020, Number 2 : Diseases listed by decreasing prevalence, incidence or number of published cases Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - January 2020 - Number 2. January 2020; Number 2. 64. Reference Link Orphanet Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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