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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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27 hot topic(s) found with the query "Long qt syndrome "

Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals
L Guo et al, JAMA Cardiology, June 2, 2021 (Posted: Jun 02, 2021 10PM)

In this genetic association study of 413 adults who had unexplained SCD, nearly one-fifth of individuals had pathogenic or likely pathogenic genetic variants consistent with inherited cardiomyopathies or arrhythmia syndromes, despite having normal cardiac findings. These clinically significant variants were predominantly associated with hypertrophic cardiomyopathy, dilated cardiomyopathy, and long QT syndrome.

Clinical utility gene card for: Long-QT syndrome
BM Beckman et al, EJHG, May 24, 2021 (Posted: May 24, 2021 8AM)

Genetic testing can be offered to apparently healthy relatives within the family in order to determine if they carry the same variant affecting function and are at risk for malignant ventricular arrhythmias. If the relative carries the known disease-associated variant a prophylactic inexpensive medical treatment can be started and specific advice can be given to gene carriers. There is a reduction of the relative risk for developing serious cardiac events of about 65%.

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
R Walsh et al, Genetics in Medicine, September 7, 2020 (Posted: Sep 07, 2020 7AM)

Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome. Large case–control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.

Inherited cardiac arrhythmias
PJ Shwartz et al, Nat Rev Dis Primers, July 2020 (Posted: Jul 26, 2020 7AM)

The main inherited cardiac arrhythmias are long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. These rare diseases are often the underlying cause of sudden cardiac death in young individuals and result from mutations in several genes encoding ion channels or proteins involved in their regulation.

An International, Multicentered, EvidenceBased Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Adler Arnon et al. Circulation 2020 Jan (Posted: Jan 28, 2020 7AM)

Mothers with long QT syndrome are at increased risk for fetal death: Findings from a multicenter international study.
Cuneo Bettina F et al. American journal of obstetrics and gynecology 2019 Sep (Posted: Sep 16, 2019 8AM)

Genetic Testing and Cascade Screening in Pediatric Long QT Syndrome and Hypertrophic Cardiomyopathy.
Knight Linda M et al. Heart rhythm 2019 Jun (Posted: Jun 26, 2019 8AM)

The efficacy of cascade screening for the inherited heart conditions long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) is incompletely characterized. This study examined the use of genetic testing and yield of cascade screening across diverse regions in the US, and evaluated obstacles to screening in multipayor systems.

Long QT Syndrome - with Dr. Anil Gehi
UNC Department of Medicine, June 2018 (Posted: Jul 04, 2018 7AM)

Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.
Ioakeimidis Nikolaos S et al. Journal of biological research (Thessalonike, Greece) 2017 Dec 6 (Posted: Oct 06, 2017 1PM)

Long QT syndrome and sudden unexpected infant death.
Van Niekerk Chantal et al. Journal of clinical pathology 2017 Sep 70(9) 808-813 (Posted: Sep 27, 2017 9AM)

β-Blocker Adherence in Familial Long QT Syndrome.
Waddell-Smith Kathryn E et al. Circulation. Arrhythmia and electrophysiology 2016 Aug 9(8) (Posted: Aug 17, 2016 9AM)

Evaluation and Management of Athletes With Long QT Syndrome: An Evolved Paradigm.
Gomez Andrew T et al. Sports health 2016 Aug (Posted: Aug 10, 2016 9AM)

Molecular autopsy finds killer mutation- Sleuthing researchers focus genomic technology on unexplained deaths
San Diego Union Tribune, March 4, 2016 (Posted: Mar 07, 2016 9AM)

A Systematic Review on the Cost-Effectiveness of Genetic and Electrocardiogram Testing for Long QT Syndrome in Infants and Young Adults.
Gonzalez Fernando Matias et al. Value Health 2015 Jul 18(5) 700-8 (Posted: Aug 26, 2015 10AM)

Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.
Campuzano Oscar et al. PLoS ONE 2014 (12) e114894 (Posted: Apr 24, 2015 3PM)

Enhanced Classification of Brugada Syndrome- and Long QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Nav1.5 Cardiac Sodium Channel.
Kapplinger Jamie D et al. Circ Cardiovasc Genet 2015 Apr 22. (Posted: Apr 24, 2015 3PM)

Long QT Syndrome
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

What Is Long QT syndrome (LQTS) is a disorder of the heart's electrical activity. It can cause sudden, uncontrollable, dangerous arrhythmias (ah-RITH-me-ahs) in response to exercise or stress. Arrhythmias are problems with the rate or rhythm of the heartbeat. People who have LQTS also can have arrhythmias for no known reason. However, not everyone who has LQTS has dangerous heart rhythms. When they do occur, though, they can be fatal. What Does "Long QT" Mean? The term "long QT" refers to an abnormal pattern seen on an EKG (electrocardiogram). An EKG is a test that detects and records the heart's electrical activity. With each heartbeat, an electrical signal spreads from the top of your heart to the bottom. As it travels, the signal causes the heart to contract and pump blood. An EKG records electrical signals as they move through your heart. Data from the EKG are mapped on a graph so your doctor can study your heart's electrical activity. Each heartbeat is mapped as five distinct electrical waves: P, Q, R, S, and T. EKG The image shows the standard setup for an EKG. In figure A, a normal heart rhythm recording shows the electrical pattern of a regular heartbeat. In figure B, a patient lies in a bed with EKG electrodes attached to his chest, upper arms, and legs. A nurse monitors the painless procedure. The image shows the standard setup for an EKG. In figure A, a normal heart rhythm recording shows the electrical pattern of a regular heartbeat. In figure B, a patient lies in a bed with EKG electrodes attached to his chest, upper arms, and legs. A nurse monitors the painless procedure. The electrical activity that occurs between the Q and T waves is called the QT interval. This interval shows electrical activity in the heart's lower chambers, the ventricles (VEN-trih-kuls). The timing of the heart's electrical activity is complex, and the body carefully controls it. Normally the QT interval is about a third of each heartbeat cycle. However, in people who have LQTS, the QT interval lasts longer than normal. A long QT interval can upset the careful timing of the heartbeat and trigger dangerous heart rhythms. For more information about the heart's electrical system, go to the Health Topics How the Heart Works article. Overview On the surface of each heart muscle cell are tiny pores called ion channels. Ion channels open and close to let electrically charged sodium, calcium, and potassium atoms (ions) flow into and out of each cell. This generates the heart's electrical activity. In people who have LQTS, the ion channels may not work well, or there may be too few of them. This may disrupt electrical activity in the heart's ventricles and cause dangerous arrhythmias. LQTS often is inherited, which means you're born with the condition and have it your whole life. There are seven known types of inherited LQTS. The most common ones are LQTS 1, 2, and 3. In LQTS 1, emotional stress or exercise (especially swimming) can trigger arrhythmias. In LQTS 2, extreme emotions, such as surprise, can trigger arrhythmias. In LQTS 3, a slow heart rate during sleep can trigger arrhythmias. You also can acquire LQTS. This means you aren't born with the disorder, but you develop it during your lifetime. Some medicines and conditions can cause acquired LQTS. (For more information, go to "What Causes Long QT Syndrome?") Outlook More than half of the people who have untreated, inherited types of LQTS die within 10 years. However, lifestyle changes and medicines can help people who have LQTS prevent complications and live longer. Some of these lifestyle changes and treatments include: ?Avoiding strenuous physical activity or startling noises. ?Adding more potassium to your diet (as your doctor advises). ?Taking heart medicines called beta blockers. These medicines help prevent sudden cardiac arrest. ?Having an implanted medical device, such as a pacemaker or implantable cardioverter defibrillator. These devices help control abnormal heart rhythms. If you have LQTS, talk with your doctor about which lifestyle changes and treatments are best for you. Other Names ?Jervell and Lange-Nielsen syndrome ?Romano-Ward syndrome

Pacemakers
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

What Is a Pacemaker A pacemaker is a small device that's placed in the chest or abdomen to help control abnormal heart rhythms. This device uses electrical pulses to prompt the heart to beat at a normal rate. Pacemakers are used to treat arrhythmias (ah-RITH-me-ahs). Arrhythmias are problems with the rate or rhythm of the heartbeat. During an arrhythmia, the heart can beat too fast, too slow, or with an irregular rhythm. A heartbeat that's too fast is called tachycardia (TAK-ih-KAR-de-ah). A heartbeat that's too slow is called bradycardia (bray-de-KAR-de-ah). During an arrhythmia, the heart may not be able to pump enough blood to the body. This can cause symptoms such as fatigue (tiredness), shortness of breath, or fainting. Severe arrhythmias can damage the body's vital organs and may even cause loss of consciousness or death. A pacemaker can relieve some arrhythmia symptoms, such as fatigue and fainting. A pacemaker also can help a person who has abnormal heart rhythms resume a more active lifestyle. Understanding the Heart's Electrical System Your heart has its own internal electrical system that controls the rate and rhythm of your heartbeat. With each heartbeat, an electrical signal spreads from the top of your heart to the bottom. As the signal travels, it causes the heart to contract and pump blood. Each electrical signal normally begins in a group of cells called the sinus node or sinoatrial (SA) node. As the signal spreads from the top of the heart to the bottom, it coordinates the timing of heart cell activity. First, the heart's two upper chambers, the atria (AY-tree-uh), contract. This contraction pumps blood into the heart's two lower chambers, the ventricles (VEN-trih-kuls). The ventricles then contract and pump blood to the rest of the body. The combined contraction of the atria and ventricles is a heartbeat. For more information about the heart's electrical system and detailed animations, go to the Health Topics How the Heart Works article. Overview Faulty electrical signaling in the heart causes arrhythmias. Pacemakers use low-energy electrical pulses to overcome this faulty electrical signaling. Pacemakers can: ?Speed up a slow heart rhythm. ?Help control an abnormal or fast heart rhythm. ?Make sure the ventricles contract normally if the atria are quivering instead of beating with a normal rhythm (a condition called atrial fibrillation). ?Coordinate electrical signaling between the upper and lower chambers of the heart. ?Coordinate electrical signaling between the ventricles. Pacemakers that do this are called cardiac resynchronization therapy (CRT) devices. CRT devices are used to treat heart failure. ?Prevent dangerous arrhythmias caused by a disorder called long QT syndrome. Pacemakers also can monitor and record your heart's electrical activity and heart rhythm. Newer pacemakers can monitor your blood temperature, breathing rate, and other factors. They also can adjust your heart rate to changes in your activity. Pacemakers can be temporary or permanent. Temporary pacemakers are used to treat short-term heart problems, such as a slow heartbeat that's caused by a heart attack, heart surgery, or an overdose of medicine. Temporary pacemakers also are used during emergencies. They might be used until your doctor can implant a permanent pacemaker or until a temporary condition goes away. If you have a temporary pacemaker, you'll stay in a hospital as long as the device is in place. Permanent pacemakers are used to control long-term heart rhythm problems. This article mainly discusses permanent pacemakers, unless stated otherwise. Doctors also treat arrhythmias with another device called an implantable cardioverter defibrillator (ICD). An ICD is similar to a pacemaker. However, besides using low-energy electrical pulses, an ICD also can use high-energy pulses to treat life-threatening arrhythmias.

Long QT syndrome 1
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Long QT syndrome 2
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Long QT syndrome 3
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Long QT syndrome 4
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Long QT syndrome 5
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Long QT syndrome 6
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Long QT syndrome 9
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Long QT syndrome 10
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Long QT syndrome 11
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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