Congenital short QT syndrome

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ORPHA:51083OMIM:609620I49.8
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Overview

Congenital short QT syndrome (SQTS) is a rare inherited heart rhythm disorder. It gets its name from the 'QT interval' — a measurement on a heart tracing (ECG) that reflects how long it takes the heart's electrical system to reset between beats. In people with SQTS, this interval is unusually short, meaning the heart resets too quickly. This disrupts the normal electrical signals that keep the heart beating in a steady, organized rhythm. Because the heart's electrical system is unstable, people with SQTS are at risk for dangerous irregular heartbeats called arrhythmias. The most serious of these — ventricular fibrillation — can cause the heart to stop pumping blood effectively, leading to sudden cardiac arrest. This can happen even in young, otherwise healthy people, including infants and children. Some people with SQTS also experience atrial fibrillation, which causes a fast, fluttery heartbeat and can lead to dizziness or fainting. Treatment focuses on preventing sudden cardiac death. The most reliable option is an implantable cardioverter-defibrillator (ICD), a small device placed under the skin that monitors the heart and delivers a shock if a life-threatening rhythm is detected. Certain medications, particularly quinidine, may also help by lengthening the QT interval back toward normal. Early diagnosis is critical, as the first sign of the condition can sometimes be a life-threatening event.

Also known as:

Key symptoms:

Fainting or blacking out, especially during physical activity or stressHeart palpitations — a feeling that the heart is racing, fluttering, or poundingDizziness or lightheadednessShortness of breathSudden cardiac arrest (the heart stops pumping effectively)Atrial fibrillation — an irregular, often fast heartbeatNo symptoms at all in some people (discovered by chance on an ECG)

Clinical phenotype terms (9)— hover any for plain English
Shortened QT intervalHP:0012232Atrial fibrillationHP:0005110Ventricular fibrillationHP:0001663Atrioventricular blockHP:0001678Ventricular arrhythmiaHP:0004308
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Congenital short QT syndrome.

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No actively recruiting trials found for Congenital short QT syndrome at this time.

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No specialists are currently listed for Congenital short QT syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Congenital short QT syndrome.

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.Based on my ECG and genetic results, how high is my personal risk of sudden cardiac arrest?,Do I need an ICD, and what are the risks and benefits for someone my age?,Is quinidine or another medication appropriate for me, and what are the side effects?,Which physical activities or sports are safe for me to do?,Should my family members be tested, and if so, who should be tested first?,What should I do — and what should people around me do — if I collapse or lose consciousness?,How often do I need follow-up appointments and heart monitoring?

Common questions about Congenital short QT syndrome

What is Congenital short QT syndrome?

Congenital short QT syndrome (SQTS) is a rare inherited heart rhythm disorder. It gets its name from the 'QT interval' — a measurement on a heart tracing (ECG) that reflects how long it takes the heart's electrical system to reset between beats. In people with SQTS, this interval is unusually short, meaning the heart resets too quickly. This disrupts the normal electrical signals that keep the heart beating in a steady, organized rhythm. Because the heart's electrical system is unstable, people with SQTS are at risk for dangerous irregular heartbeats called arrhythmias. The most serious of th

How is Congenital short QT syndrome inherited?

Congenital short QT syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.