scholarly journals Management of Congenital Long-QT Syndrome: Commentary From the Experts

2021 ◽  
Author(s):  
Elizabeth S. Kaufman ◽  
Lee L. Eckhardt ◽  
Michael J. Ackerman ◽  
Peter F. Aziz ◽  
Elijah R. Behr ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Intermediate Risk ◽  
Long Qt ◽  
Divergence Of Opinion ◽  
Clinical Scenarios ◽  
Key Points ◽  
Therapeutic Measures ◽  
Β Blocker ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

While published guidelines are useful in the care of patients with long-QT syndrome, it can be difficult to decide how to apply the guidelines to individual patients, particularly those with intermediate risk. We explored the diversity of opinion among 24 clinicians with expertise in long-QT syndrome. Experts from various regions and institutions were presented with 4 challenging clinical scenarios and asked to provide commentary emphasizing why they would make their treatment recommendations. All 24 authors were asked to vote on case-specific questions so as to demonstrate the degree of consensus or divergence of opinion. Of 24 authors, 23 voted and 1 abstained. Details of voting results with commentary are presented. There was consensus on several key points, particularly on the importance of the diagnostic evaluation and of β-blocker use. There was diversity of opinion about the appropriate use of other therapeutic measures in intermediate-risk individuals. Significant gaps in knowledge were identified.

scholarly journals Effectiveness and Limitations of β-Blocker Therapy in Congenital Long-QT Syndrome

Circulation ◽  
2000 ◽  
Vol 101 (6) ◽  
pp. 616-623 ◽  
Author(s):  
Arthur J. Moss ◽  
Wojciech Zareba ◽  
W. Jackson Hall ◽  
Peter J. Schwartz ◽  
Richard S. Crampton ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Long Qt ◽  
Blocker Therapy ◽  
Β Blocker ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

Sports participation in long QT syndrome

2017 ◽  
Vol 27 (S1) ◽  
pp. S43-S48 ◽  
Author(s):  
Peter F. Aziz ◽  
Elizabeth V. Saarel
Keyword(s):  
Long Qt Syndrome ◽  
Scientific Evidence ◽  
Sports Participation ◽  
Athletic Activity ◽  
Long Qt ◽  
Blocker Therapy ◽  
Complex Interactions ◽  
Β Blocker ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

AbstractUntreated congenital long QT syndrome may result in potentially lethal ventricular tachycardia. In the most common type, risk of such an event has been linked to exercise. This originally resulted in very restrictive guidelines for sports participation in affected individuals. Although the complex interactions of a specific genotype, modifying cofactors, and risk are only now being explored, scientific evidence based on clinical experience now suggests that in many instances such restrictive guidelines are unwarranted. In particular, patients with this condition who are compliant with β-blocker therapy and who have never had symptoms during exertion are now enjoying the benefits of athletic activity.

scholarly journals Management of Long QT Syndrome in Women Before, During, and After Pregnancy

2021 ◽  
Vol 15 ◽  
Author(s):  
Caroline Taylor ◽  
Bruce S Stambler
Keyword(s):  
Long Qt Syndrome ◽  
Postpartum Period ◽  
Torsades De Pointes ◽  
Close Monitoring ◽  
Cardiac Events ◽  
Long Qt ◽  
Life Threatening ◽  
Β Blocker ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

Congenital long QT syndrome (LQTS) is a primary genetic and electrical disorder that increases risk for torsades de pointes, syncope, and sudden death. Post-pubertal women with LQTS require specialized multidisciplinary management before, during, and after pregnancy involving cardiology and obstetrics to reduce risk for cardiac events in themselves and their fetuses and babies. The risk of potentially life-threatening events is lower during pregnancy but increases significantly during the 9-month postpartum period. Treatment of women with LQTS with a preferred β-blocker at optimal doses along with close monitoring are indicated throughout pregnancy and during the high-risk postpartum period.

scholarly journals A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Hyun Sok Yoo ◽  
Nancy Medina ◽  
María Alejandra von Wulffen ◽  
Natalia Ciampi ◽  
Analia Paolucci ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Frameshift Mutation ◽  
Alpha Subunit ◽  
Syndrome Type ◽  
Long Qt ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

Abstract Background The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant of KCNH2 gene manifest a phenotype characterized by prolongation of QT interval and increased risk of sudden cardiac death due to life-threatening ventricular tachyarrhythmias. Results A family composed of 17 members with a family history of sudden death and recurrent syncopes was studied. The DNA of proband with clinical manifestations of long QT syndrome was analyzed using a massive DNA sequencer that included the following genes: KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, ANK2, KCNJ2, CACNA1, CAV3, SCN1B, SCN4B, AKAP9, SNTA1, CALM1, KCNJ5, RYR2 and TRDN. DNA sequencing of proband identified a novel pathogenic variant of KCNH2 gene produced by a heterozygous frameshift mutation c.46delG, pAsp16Thrfs*44 resulting in the synthesis of a truncated alpha subunit of the Kv11.1 ion channel. Eight family members manifested the phenotype of long QT syndrome. The study of family segregation using Sanger sequencing revealed the identical variant in several members of the family with a positive phenotype. Conclusions The clinical and genetic findings of this family demonstrate that the novel frameshift mutation causing haploinsufficiency can result in a congenital long QT syndrome with a severe phenotypic manifestation and an elevated risk of sudden cardiac death.

Learning from tragedy–The Jessica Barnett story: challenges in the diagnosis of long QT syndrome

Diagnosis ◽  
2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Mark L. Graber ◽  
Andrew P. J. Olson ◽  
Tanya Barnett
Keyword(s):  
Anxiety Disorder ◽  
Long Qt Syndrome ◽  
Adolescent Girl ◽  
Ventricular Cardiomyopathy ◽  
Long Qt ◽  
Genetic Studies ◽  
The Family ◽  
Qt Syndrome ◽  
Hyperventilation Test ◽  
Congenital Long Qt Syndrome

Abstract We describe the case of Jessica Barnett, an adolescent girl whose repeated episodes of syncope and near-syncope were ascribed to a seizure or anxiety disorder. The correct diagnoses (congenital long QT syndrome; arrythmogenic right ventricular cardiomyopathy) were established by autopsy and genetic studies only after her death at age 17. The perspective of the family is presented, along with an analysis of what went right and what went wrong in Jessica’s diagnostic journey. Key lessons in this case include the value of family as engaged members of the diagnostic team, that a ‘hyperventilation test’ should not be used to exclude cardiac origins of syncope or pre-syncope, and the inherent challenges in the diagnosis of the long QT syndrome.

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