Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias – Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene

Krych, Michalina; Biernacka, Katarzyna; Ponińska, Joanna; Kukla, Piotr; Filipecki, Artur; Gajda, Robert; Hasdemir, Can; Antzelevitch, Charles; Kosiec, Agnieszka; Szperl, Małgorzata; Płoski, Rafał; Trusz‐Gluza, Maria; Mizia-Stec, Katarzyna; Hoffmań, Piotr

doi:10.1016/j.jjcc.2017.01.009

Cited by 21 publications

(21 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our finding concord with the study by Yoon et al (2006), who observed mandibular hypoplasia in all 10 examined subjects through anthropometric evaluation. Differently, in studies on KCNJ2 mutation carriers by Tristani‐Firouzi et al (2002) and Krych et al (2017), a small mandible was observed in 16/36 (44%) and 15/25 (60%) patients respectively. Phenotypic variability in ATS is well known and may explain that discrepancy; nevertheless, a quantitative evaluation of facial structures can detect small variations which might not be noticed on a mere visual inspection of patients.…”

Section: Discussionmentioning

confidence: 84%

“…We analyzed facial features pooling male and female data, after verifying they were not different. Krych et al (2017) reported that few studies analyzed data concerning ATS manifestations in both sexes, with contrasting results in relation to cardiac and skeletal muscle phenotypes; Andelfinger et al (2002) did not find sex specificity for dysmorphic features.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Distinctive facial features in Andersen–Tawil syndrome: A three‐dimensional stereophotogrammetric analysis

Dolci

Sansone

Gibelli

et al. 2020

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Andersen–Tawil syndrome (ATS) is a rare potassium channelopathy causing periodic paralysis, cardiac arrhythmias, and dysmorphic features. A detailed analysis of the face could facilitate diagnosis of ATS, as approximately 30% of patients do not show variants in KCNJ2 gene, and diagnosis is established by clinical findings. We aimed to characterize the face in ATS through a quantitative approach, as facial anomalies may be unnoticed on visual inspection. Facial images of 12 subjects with genetically confirmed ATS (six males, six females, age 5–67 years) were acquired through stereophotogrammetry. Using 38 soft‐tissue landmarks, linear distances, angles, and ratios were calculated and expressed as z‐score values, with reference to 477 healthy subjects matched for sex and age. All patients showed decreased lower facial height with shortening of philtrum (mean z‐score ± SD: −1.5 ± 0.9), smaller mid and lower facial depths (−1.9 ± 0.7; −2.3 ± 0.9), short palpebral fissures (right −1.2 ± 0.4; left −1.6 ± 0.6), smaller mandibular ramus length (−2.1 ± 0.4), and increased nasal width/length ratio (1.4 ± 0.5) with smaller nostril axis length (right −1.8 ± 0.8, left −1.6 ± 0.7). Hypertelorism and low‐set ears were detected in two‐thirds of patients. The study quantified facial dysmorphysm in ATS, extending information about known features, and detecting unrecorded philtrum and nostril characteristics, which may be distinctive traits of the disorder.

show abstract

Section: Discussionmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 99%

Distinctive facial features in Andersen–Tawil syndrome: A three‐dimensional stereophotogrammetric analysis

Dolci

Sansone

Gibelli

et al. 2020

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…The usefulness of these devices in cardiac rehabilitation is undisputed [ 33 ]. Currently, we are starting a long-term observation study of patients with Long QT syndrome type VII, employing modern HRMs for use in ultramarathoners (long “battery life”) [ 34 , 35 ].…”

Section: Discussionmentioning

confidence: 99%

Is Continuous ECG Recording on Heart Rate Monitors the Most Expected Function by Endurance Athletes, Coaches, and Doctors?

Gajda¹

2020

Diagnostics

Self Cite

View full text Add to dashboard Cite

Heart rate monitors (HRMs) are important for measuring heart rate, which can be used as a training parameter for healthy athletes. They indicate stress-related heart rhythm disturbances—recognized as an unexpected increase in heart rate (HR)—which can be life-threatening. Most HRMs confuse arrhythmias with artifacts. This study aimed to assess the usefulness of electrocardiogram (ECG) recordings from sport HRMs for endurance athletes, coaches, and physicians, compared with other basic and hypothetical functions. We conducted three surveys among endurance athletes (76 runners, 14 cyclists, and 10 triathletes), 10 coaches, and 10 sports doctors to obtain information on how important ECG recordings are and what HRM functions should be improved to meet their expectations in the future. The respondents were asked questions regarding use and hypothetical functions, as well as their preference for HRM type (optical/strap). Athletes reported distance, pace, instant HR, and oxygen threshold as being the four most important functions. ECG recording ranked eighth and ninth for momentary and continuous recording, respectively. Coaches placed more importance on ECG recording. Doctors ranked ECG recording the highest. All participants preferred optical HRMs to strap HRMs. Research on the improvement and implementation of HRM functions showed slightly different preferences for athletes compared with coaches and doctors. In cases where arrhythmia was suspected, the value of the HRM’s ability to record ECGs during training by athletes and coaches increased. For doctors, this is the most desirable feature in any situation. Considering the expectations of all groups, continuous ECG recording during training will significantly improve the safety of athletes.

show abstract

“…Currently, a long-term observational study of patients with long QT syndrome type VII is performed, employing modern HRMs (with long "battery life") for use in ultramarathoners [30,31].…”

Section: Strap Hrms or Optical Hrm?mentioning

confidence: 99%

Heart rate monitors used by athletes — from gadget to medical equipment. A decade of own observations

Gajda¹,

Gajda²,

Czuba

et al. 2021

Medical Research Journal

Self Cite

View full text Add to dashboard Cite

Introduction: For many years, many athletes have reported to the Centre for Sports Cardiology in Pułtusk that during endurance training, mainly running and cycling, they found unexpected increases in heart rate (HR) values observed on sports heart rate monitors (HRMs), in the vast majority of cases without the accompanying clinical symptoms. The authors have attempted to answer the question of whether the "arrhythmia" observed on HRMs is a rhythm disturbance or a mere technical artefact. The aim of the study: This article aimed to summarize the authors' observations in the field of the usefulness of HRMs for the assessment of cardiac arrhythmias in the situation of introducing new technological solutions in the modernized and enriched ones with new functions HRMs. Material and methods: Over ten years, numerous studies have been carried out and the world literature has been also analysed many times, finally describing the authors' study results and observations in numerous types of English-language articles published between 2017 and 2021. In this review article, the authors focused only on their publications from the Centre for Sports Cardiology in Pułtusk on the issues of heart rhythm disturbances observed on HRMs by endurance athletes, and on publications in which researchers from CKS participated and the articles themselves were related with the use of HRMs. Only a few references have been cited from other sources. Conclusions: The HRMs used in the past years were not significant for the treatment of asymptomatic exercise-stimulated arrhythmias. These HRMs, however, in a symptomatic arrhythmia situation, became an effective diagnostic tool confirming its occurrence. The analysis of cases and literature shows that modern sports heart rate monitors used by athletes of endurance disciplines (especially with the possibility of ECG recording) are becoming a useful, important and more and more effective diagnostic tool in the detection and final diagnosis of cardiac arrhythmias stimulated by exercise, both symptomatic and asymptomatic athletes and can significantly contribute to the increase of safety during training. It can be assumed that future HRMs will have comparable diagnostic value in detecting cardiac arrhythmias as the Holter ECG, surpassing them with the possibility of constant data transmission, ease of use and affordable price.

show abstract

Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias – Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene

Cited by 21 publications

References 19 publications

Distinctive facial features in Andersen–Tawil syndrome: A three‐dimensional stereophotogrammetric analysis

Distinctive facial features in Andersen–Tawil syndrome: A three‐dimensional stereophotogrammetric analysis

Is Continuous ECG Recording on Heart Rate Monitors the Most Expected Function by Endurance Athletes, Coaches, and Doctors?

Heart rate monitors used by athletes — from gadget to medical equipment. A decade of own observations

Contact Info

Product

Resources

About