scholarly journals Impediments to DNA Testing and Cascade Screening for Hypertrophic Cardiomyopathy and Long QT syndrome: A Qualitative Study of Patient Experiences

2010 ◽  
Vol 19 (6) ◽  
pp. 630-639 ◽  
Author(s):  
Andrew Smart
Heart Rhythm ◽  
2020 ◽  
Vol 17 (1) ◽  
pp. 106-112 ◽  
Author(s):  
Linda M. Knight ◽  
Erin Miller ◽  
Joshua Kovach ◽  
Patricia Arscott ◽  
Johannes C. von Alvensleben ◽  
...  

Heart ◽  
1997 ◽  
Vol 78 (2) ◽  
pp. 110-116 ◽  
Author(s):  
J. Burn ◽  
J. Camm ◽  
M. J. Davies ◽  
L. Peltonen ◽  
P. J. Schwartz ◽  
...  

Neonatology ◽  
2020 ◽  
pp. 1-8
Author(s):  
Alexander Simma ◽  
Antonia Potapow ◽  
Susanne Brandstetter ◽  
Holger Michel ◽  
Michael Melter ◽  
...  

<b><i>Introduction:</i></b> Newborn sudden infant death syndrome (SIDS) has failed to decrease in the last decades, and a third of the neonatal cases occurred within the first 6 days of life. The long QT syndrome (LQTS) is a genetic disease with a prevalence of 1 in 2,000 live births and contributes to almost 10% of SIDS cases. Early identification of LQTS through electrocardiogram (ECG) screening is likely to reduce mortality. <b><i>Methods and Results:</i></b> In this ongoing prospective study we evaluated 2,251 ECGs from newborns participating in the KUNO Kids birth cohort study between July 2015 and July 2018. ECGs were recorded at a mean age of 2.0 days (IQR 0 days). The QT interval was corrected for heart rate using Bazett’s formula (QTc). A QTc between 451 and 460, 461–470, and &#x3e;470 ms was measured in 23 (1.0), 14 (0.6), and 62 (2.8%) participants, respectively. Fourteen neonates (0.62%) were admitted and monitored because their initial QTc was ≥500 ms. In 2 genetically analyzed participants, a mutation was found. One disease-causing for LQTS type 1 and the other of unclear significance. Cascade screening revealed affected members in both families. <b><i>Conclusion:</i></b> A standardized neonatal ECG screening in the first days of life is able to identify neonates with a relevant transient form of prolonged QT intervals and to aid diagnosing congenital LQTS.


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