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Wikner, A., Johansson, K., Enocson, E., Sthen Bergdahl, M., Hansson, L., Rydberg, A. & Sandberg, C. (2024). Lower bone strength in young patients with Fontan circulation compared to controls. Cardiology in the Young
Open this publication in new window or tab >>Lower bone strength in young patients with Fontan circulation compared to controls
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2024 (English)In: Cardiology in the Young, ISSN 1047-9511, E-ISSN 1467-1107Article in journal (Refereed) Epub ahead of print
Abstract [en]

Objectives: Previous reports indicate bone deficits in patients with Fontan circulation. However, the consequences of these deficits on bone strength and when these changes occur are unclear.

Aim: To compare the tibial bone strength-strain index between young patients (6-19 years) with Fontan circulation and age- and sex-matched controls, and to determine strength-strain-index in subgroups of children (6-12 years) and adolescents (13-19 years) versus controls.

Method: The tibia was examined with peripheral quantitative CT. Based on the assessed data, bone strength-strain index was calculated in the lateral and anterior-posterior directions.

Results: Twenty patients with Fontan and twenty controls (mean age 13.0 ± 4.4 years; 50% females) were examined. Patients had a lower strength-strain index in the lateral direction compared to controls (808.4 ± 416.8mm3 versus 1162.5 ± 552.1mm3, p = 0.043). Subgroup analyses showed no differences regarding strength-strain index in children (6-12 years) with Fontan circulation compared to controls. However, the adolescents (13-19 years) with Fontan circulation had lower strength-strain indexes in both the lateral and anterior-posterior directions compared to controls (1041.4 ± 299.8mm3 versus 1596.4 ± 239.6mm3, p < 0.001, and 771.7 ± 192.4mm3 versus 1084.9 ± 215.0mm3, p = 0.004). When adjusted for height, there were differences between patients (6-19 years) and controls in strength-strain indexes in both the lateral and anterior-posterior directions. In subgroup analyses, the results remained robust.

Conclusion: Young patients (6-19 years) with Fontan circulation have a lower strength-strain index in the tibia compared to controls. Subgroup analyses show that this deficit is mainly driven by the differences in adolescents (13-19 years), which might suggest that bone strength decreases with age.

Place, publisher, year, edition, pages
Cambridge University Press, 2024
Keywords
adolescents, bone mineral content, bone mineral density, CHD, children, Strength-strain index, total cavo-pulmonary connection
National Category
Pediatrics Public Health, Global Health, Social Medicine and Epidemiology
Identifiers
urn:nbn:se:umu:diva-222429 (URN)10.1017/S1047951124000404 (DOI)38450512 (PubMedID)2-s2.0-85187115758 (Scopus ID)
Funder
Swedish Heart Lung Foundation, 20160496
Available from: 2024-03-19 Created: 2024-03-19 Last updated: 2024-03-19
Lundström, A., Wiklund, U., Winbo, A., Eliasson, H., Karlsson, M. & Rydberg, A. (2023). Cardiac response to water activities in children with Long QT syndrome type 1. PLOS ONE, 18(12), Article ID e0295431.
Open this publication in new window or tab >>Cardiac response to water activities in children with Long QT syndrome type 1
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2023 (English)In: PLOS ONE, E-ISSN 1932-6203, Vol. 18, no 12, article id e0295431Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Swimming is a genotype-specific trigger in long QT syndrome type 1 (LQT1).

OBJECTIVE: To examine the autonomic response to water activities in children and adolescents with LQT1.

METHODS: In this cross-sectional study, LQT1 patients were age and sex matched to one healthy control subject. Electrocardiograms (ECGs) were recorded during face immersion (FI), swimming, diving, and whole-body submersion (WBS). Heart rate (HR) and heart rate variability (HRV) was measured. The high frequency (HF) component of HRV was interpreted to reflect parasympathetic activity, while the low frequency (LF) component was interpreted as reflecting the combined influence of sympathetic and parasympathetic activity on autonomic nervous modulation of the heart.

RESULTS: Fifteen LQT1 patients (aged 7-19 years, all on beta-blocker therapy) and fifteen age and sex matched non-medicated controls were included. No significant ventricular arrhythmias were observed in the LQT1 population during the water activities. Out of these 15 matched pairs, 12 pairs managed to complete FI and WBS for more than 10 seconds and were subsequently included in HR and HRV analyses. In response to FI, the LQT1 group experienced a drop in HR of 48 bpm, compared to 67 bpm in the control group (p = 0.006). In response to WBS, HR decreased by 48 bpm in the LQT1 group and 70 bpm in the control group (p = 0.007). A significantly lower PTOT (p < 0.001) and HF (p = 0.011) component was observed before, during and after FI in LQT1 patients compared with the controls. Before, during and after WBS, a significantly lower total power (p < 0.001), LF (p = 0.002) and HF (p = 0.006) component was observed in the LQT1 patients.

CONCLUSION: A significantly lower HR decrease in response to water activities was observed in LQT1 subjects on beta-blocker therapy, compared to matched non-medicated controls. The data suggests an impaired parasympathetic response in LQT1 children and adolescents. An aberrant autonomic nervous system (ANS) response may cause an autonomic imbalance in this patient group.

Place, publisher, year, edition, pages
Public Library of Science (PLoS), 2023
National Category
Cardiac and Cardiovascular Systems
Identifiers
urn:nbn:se:umu:diva-218679 (URN)10.1371/journal.pone.0295431 (DOI)38060596 (PubMedID)2-s2.0-85179900660 (Scopus ID)
Available from: 2023-12-27 Created: 2023-12-27 Last updated: 2024-03-27Bibliographically approved
Bratt, E.-L., Mora, M. A., Sparud-Lundin, C., Saarijärvi, M., Burström, Å., Skogby, S., . . . Moons, P. (2023). Effectiveness of the STEPSTONES transition program for adolescents with congenital heart disease: a randomized controlled trial. Journal of Adolescent Health, 73(4), 655-663
Open this publication in new window or tab >>Effectiveness of the STEPSTONES transition program for adolescents with congenital heart disease: a randomized controlled trial
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2023 (English)In: Journal of Adolescent Health, ISSN 1054-139X, E-ISSN 1879-1972, Vol. 73, no 4, p. 655-663Article in journal (Refereed) Published
Abstract [en]

Purpose: Adolescents with congenital heart disease transition from childhood to adulthood and transfer from pediatric-oriented to adult-oriented care. High-level empirical evidence on the effectiveness of transitional care is scarce. This study investigated the empowering effect (primary outcome) of a structured person-centered transition program for adolescents with congenital heart disease and studied its effectiveness on transition readiness, patient-reported health, quality of life, health behaviors, disease-related knowledge, and parental outcomes e.g., parental uncertainty, readiness for transition as perceived by the parents (secondary outcomes).

Methods: The STEPSTONES-trial comprised a hybrid experimental design whereby a randomized controlled trial was embedded in a longitudinal observational study. The trial was conducted in seven centers in Sweden. Two centers were allocated to the randomized controlled trial-arm, randomizing participants to intervention or control group. The other five centers were intervention-naïve centers and served as contamination check control group. Outcomes were measured at the age of 16 years (baseline), 17 years, and 18.5 years.

Results: The change in empowerment from 16 years to 18.5 years differed significantly between the intervention group and control group (mean difference = 3.44; 95% confidence interval = 0.27–6.65; p = .036) in favor of intervention group. For the secondary outcomes, significant differences in change over time were found in parental involvement (p = .008), disease-related knowledge (p = .0002), and satisfaction with physical appearance (p = .039). No differences in primary or secondary outcomes were detected between the control group and contamination check control group, indicating that there was no contamination in the control group.

Discussion: The STEPSTONES transition program was effective in increasing patient empowerment, reducing parental involvement, improving satisfaction with physical appearance, and increasing disease-related knowledge.

Place, publisher, year, edition, pages
Elsevier, 2023
Keywords
Adolescents, Congenital, Empowerment, Heart disease, Randomized controlled trial, Transfer, Transition
National Category
Pediatrics Nursing
Identifiers
urn:nbn:se:umu:diva-206797 (URN)10.1016/j.jadohealth.2023.02.019 (DOI)37032211 (PubMedID)2-s2.0-85151843438 (Scopus ID)
Funder
Swedish Heart Lung Foundation, 20150535Forte, Swedish Research Council for Health, Working Life and Welfare, STYA-2015/0003Swedish Research Council, 2015-02503University of Gothenburg
Available from: 2023-04-20 Created: 2023-04-20 Last updated: 2024-04-10Bibliographically approved
Kaizer, A. M., Winbo, A., Clur, S.-A. B., Etheridge, S. P., Ackerman, M. J., Horigome, H., . . . Cuneo, B. F. (2023). Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome. Europace, 25(11), Article ID euad319.
Open this publication in new window or tab >>Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome
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2023 (English)In: Europace, ISSN 1099-5129, E-ISSN 1532-2092, Vol. 25, no 11, article id euad319Article in journal (Refereed) Published
Abstract [en]

AIMS: In long QT syndrome (LQTS), primary prevention improves outcome; thus, early identification is key. The most common LQTS phenotype is a foetal heart rate (FHR) < 3rd percentile for gestational age (GA) but the effects of cohort, genotype, variant, and maternal β-blocker therapy on FHR are unknown. We assessed the influence of these factors on FHR in pregnancies with familial LQTS and developed a FHR/GA threshold for LQTS.

METHODS AND RESULTS: In an international cohort of pregnancies in which one parent had LQTS, LQTS genotype, familial variant, and maternal β-blocker effects on FHR were assessed. We developed a testing algorithm for LQTS using FHR and GA as continuous predictors. Data included 1966 FHRs at 7-42 weeks' GA from 267 pregnancies/164 LQTS families [220 LQTS type 1 (LQT1), 35 LQTS type 2 (LQT2), and 12 LQTS type 3 (LQT3)]. The FHRs were significantly lower in LQT1 and LQT2 but not LQT3 or LQTS negative. The LQT1 variants with non-nonsense and severe function loss (current density or β-adrenergic response) had lower FHR. Maternal β-blockers potentiated bradycardia in LQT1 and LQT2 but did not affect FHR in LQTS negative. A FHR/GA threshold predicted LQT1 and LQT2 with 74.9% accuracy, 71% sensitivity, and 81% specificity.

CONCLUSION: Genotype, LQT1 variant, and maternal β-blocker therapy affect FHR. A predictive threshold of FHR/GA significantly improves the accuracy, sensitivity, and specificity for LQT1 and LQT2, above the infant's a priori 50% probability. We speculate this model may be useful in screening for LQTS in perinatal subjects without a known LQTS family history.

Place, publisher, year, edition, pages
Oxford University Press, 2023
Keywords
Bradycardia, Channelopathy, Foetal arrhythmia, Foetus, Inherited arrhythmias, Long QT syndrome, Potassium currents, Stillbirth, Sudden death
National Category
Obstetrics, Gynecology and Reproductive Medicine Cardiac and Cardiovascular Systems
Identifiers
urn:nbn:se:umu:diva-217540 (URN)10.1093/europace/euad319 (DOI)001107634900003 ()37975542 (PubMedID)2-s2.0-85177987474 (Scopus ID)
Available from: 2023-12-13 Created: 2023-12-13 Last updated: 2023-12-15Bibliographically approved
Dahlberg, P., Axelsson, K.-J., Rydberg, A., Lundahl, G., Gransberg, L. & Bergfeldt, L. (2023). Spatiotemporal repolarization dispersion before and after exercise in patients with long QT syndrome type 1 versus controls: probing into the arrhythmia substrate. American Journal of Physiology. Heart and Circulatory Physiology, 325(6), H1279-H1289
Open this publication in new window or tab >>Spatiotemporal repolarization dispersion before and after exercise in patients with long QT syndrome type 1 versus controls: probing into the arrhythmia substrate
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2023 (English)In: American Journal of Physiology. Heart and Circulatory Physiology, ISSN 0363-6135, E-ISSN 1522-1539, Vol. 325, no 6, p. H1279-H1289Article in journal (Refereed) Published
Abstract [en]

Congenital long QT syndrome (LQTS) carries an increased risk for syncope and sudden death. QT prolongation promotes ventricular extrasystoles, which, in the presence of an arrhythmia substrate, might trigger ventricular tachycardia degenerating into fibrillation. Increased electrical heterogeneity (dispersion) is the suggested arrhythmia substrate in LQTS. In the most common subtype LQT1, physical exercise predisposes for arrhythmia and spatiotemporal dispersion was therefore studied in this context. Thirty-seven patients (57% on β-blockers) and 37 healthy controls (mean age, 31 vs. 35; range, 6-68 vs. 6-72 yr) performed an exercise test. Frank vectorcardiography was used to assess spatiotemporal dispersion as Tampl, Tarea, the ventricular gradient (VG), and the Tpeak-end interval from 10-s signal averages before and 7 ± 2 min after exercise; during exercise too much signal disturbance excluded analysis. Baseline and maximum heart rates as well as estimated exercise intensity were similar, but heart rate recovery was slower in patients. At baseline, QT and heart rate-corrected QT (QTcB) were significantly longer in patients (as expected), whereas dispersion parameters were numerically larger in controls. After exercise, QTpeakcB and Tpeak-endcB increased significantly more in patients (18 ± 23 vs. 7 ± 10 ms and 12 ± 17 vs. 2 ± 6 ms; P < 0.001 and P < 0.01). There was, however, no difference in the change in Tampl, Tarea, and VG between groups. In conclusion, although temporal dispersion of repolarization increased significantly more after exercise in patients with LQT1, there were no signs of exercise-induced increase in global dispersion of action potential duration and morphology. The arrhythmia substrate/mechanism in LQT1 warrants further study.

NEW & NOTEWORTHY: Physical activity increases the risk for life-threatening arrhythmias in LQTS type 1 (LQT1). The arrhythmia substrate is presumably altered electrical heterogeneity (a.k.a. dispersion). Spatiotemporal dispersion parameters were therefore compared before and after exercise in patients versus healthy controls using Frank vectorcardiography, a novelty. Physical exercise prolonged the time between the earliest and latest complete repolarization in patients versus controls, but did not increase parameters reflecting global dispersion of action potential duration and morphology, another novelty.

Keywords
arrhythmia mechanism, exercise stress test, long QT syndrome, repolarization dispersion, vectorcardiography
National Category
Cardiac and Cardiovascular Systems
Identifiers
urn:nbn:se:umu:diva-216184 (URN)10.1152/ajpheart.00335.2023 (DOI)37773058 (PubMedID)2-s2.0-85175270582 (Scopus ID)
Available from: 2023-11-09 Created: 2023-11-09 Last updated: 2023-11-09Bibliographically approved
Sthen Bergdahl, M., Crenshaw, A. G., Rylander Hedlund, E., Sjöberg, G., Rydberg, A. & Sandberg, C. (2022). Calf Muscle Oxygenation is Impaired and May Decline with Age in Young Patients with Total Cavopulmonary Connection. Pediatric Cardiology, 43(2), 449-456
Open this publication in new window or tab >>Calf Muscle Oxygenation is Impaired and May Decline with Age in Young Patients with Total Cavopulmonary Connection
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2022 (English)In: Pediatric Cardiology, ISSN 0172-0643, E-ISSN 1432-1971, Vol. 43, no 2, p. 449-456Article in journal (Refereed) Published
Abstract [en]

Patients palliated with Total Cavopulmonary Connection have a lower muscle mass and a lower exercise capacity. We assessed calf muscle oxidative metabolism during and after heel raise exercise to exhaustion in young patients with TCPC compared to healthy peers. Near-infrared spectroscopy was used for measuring oxygen metabolism in the medial portion of the gastrocnemius muscle. Forty-three patients with TCPC, aged 6–18 years, were compared with 43 age and sex-matched healthy control subjects. Subgroups were formed to include children (6–12 years) and adolescents (13–18 years) to determine if these age groups influenced the results. During exercise, for the patients compared to controls there was a lower increase in deoxygenated hemoglobin (oxygen extraction) (5.13 ± 2.99au vs. 7.75 ± 4.15au, p = 0.001) and a slower rate of change in total hemoglobin (blood volume) (0.004 ± 0.015au vs 0.016 ± 0.01au, p = 0.001). Following exercise, patients exhibited a slower initial increase in tissue oxygenation saturation index (0.144 ± 0.11au vs 0.249 ± 0.226au, p = 0.007) and a longer half-time to maximum hyperemia (23.7 ± 11.4 s vs 16.8 ± 7.5 s, p = 0.001). On the subgroup level, the adolescents differed compared to healthy peers, whereas the children did not. Young patients with TCPC had impaired oxidative metabolism during exercise and required a longer time to recover. In that the differences were seen in the adolescent group and not in the children group may indicate a declining function with age.

Place, publisher, year, edition, pages
Springer, 2022
Keywords
Exercise, Fontan, Near-infrared spectroscopy, NIRS, TCPC, Total cavopulmonary connection
National Category
Pediatrics Cardiac and Cardiovascular Systems
Identifiers
urn:nbn:se:umu:diva-191382 (URN)10.1007/s00246-021-02743-6 (DOI)000705716400001 ()34623455 (PubMedID)2-s2.0-85116846174 (Scopus ID)
Funder
Swedish Heart Lung Foundation, 20160496
Available from: 2022-01-14 Created: 2022-01-14 Last updated: 2024-04-10Bibliographically approved
Sundström, E., Jensen, S. M., Diamant, U.-B., Wiklund, U. & Rydberg, A. (2022). ICD harm and benefit: risk scores applied to the Swedish ICD-treated LQTS population. Scandinavian Cardiovascular Journal, 56(1), 48-55
Open this publication in new window or tab >>ICD harm and benefit: risk scores applied to the Swedish ICD-treated LQTS population
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2022 (English)In: Scandinavian Cardiovascular Journal, ISSN 1401-7431, E-ISSN 1651-2006, Vol. 56, no 1, p. 48-55Article in journal (Refereed) Published
Abstract [en]

The use of implantable cardioverter defibrillators (ICDs) in long QT syndrome (LQTS) patients is essential in high-risk patients. However, it is sometimes used in patients without high-risk profiles for whom the expected benefit may be lower than the risk of ICD harm. Here, we evaluated ICD benefit and harm by assessing risk according to risk scores and pre-ICD clinical characteristics. Design. We studied 109 Swedish LQTS patients drawn from the Swedish ICD and Pacemaker Registry with data collected from medical records. In addition to clinical characteristics, we used two risk scores to assess pre-ICD risk, and evaluated ICD benefit and harm. Results. Twenty percent of all patients received ≥1 appropriate shock with a first appropriate shock incidence rate of 4.3 per 100 person-years. A long QTc (≥550 ms) and double mutations were significantly associated with appropriate shock. Low risk scores among patients without pre-ICD aborted cardiac arrest were not significantly associated with low risk of first appropriate shock. The incidence rates of a first inappropriate shock and first complication were 3.0 and 7.6 per 100 person-years, respectively. Conclusion. Our findings on ICD harm emphasize the importance of careful individual pre-ICD consideration. When we applied two risk scores to patients without pre-ICD aborted cardiac arrest, we could not validate their ability to identify patients with low risk of appropriate shocks and patients who were assessed as having a low risk still received appropriate shocks. This further supports the complexity of risk stratification and the difficulty of using risk scores.

Place, publisher, year, edition, pages
Taylor & Francis, 2022
Keywords
benefit, harm, implantable cardioverter defibrillator, Long QT syndrome, risk, Sweden
National Category
Cardiac and Cardiovascular Systems
Identifiers
urn:nbn:se:umu:diva-194538 (URN)10.1080/14017431.2022.2060524 (DOI)000788341300001 ()35481393 (PubMedID)2-s2.0-85128932257 (Scopus ID)
Funder
Swedish Heart Lung Foundation, 20150482Region Västerbotten, 7002996
Available from: 2022-05-09 Created: 2022-05-09 Last updated: 2024-04-24Bibliographically approved
Fricke, K., Mellander, M., Hanséus, K., Tran, P.-K., Synnergren, M., Ramgren, J. J., . . . Liuba, P. (2022). Impact of Left Ventricular Morphology on Adverse Outcomes Following Stage 1 Palliation for Hypoplastic Left Heart Syndrome: 20 Years of National Data From Sweden. Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 11(7), Article ID e022929.
Open this publication in new window or tab >>Impact of Left Ventricular Morphology on Adverse Outcomes Following Stage 1 Palliation for Hypoplastic Left Heart Syndrome: 20 Years of National Data From Sweden
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2022 (English)In: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, ISSN 2047-9980, E-ISSN 2047-9980, Vol. 11, no 7, article id e022929Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Hypoplastic left heart syndrome is associated with significant morbidity and mortality. We aimed to assess the influence of left ventricular morphology and choice of shunt on adverse outcome in patients with hypoplastic left heart syndrome and stage 1 palliation.

METHODS AND RESULTS: This was a retrospective analysis of patients with hypoplastic left heart syndrome with stage 1 palliation between 1999 and 2018 in Sweden. Patients (n=167) were grouped based on the anatomic subtypes aortic-mitral atresia, aortic atresia-mitral stenosis (AA-MS), and aortic-mitral stenosis. The left ventricular phenotypes including globular left ventricle (Glob-LV), miniaturized and slit-like left ventricle (LV), and the incidence of major adverse events (MAEs) including mortality were assessed. The overall mortality and MAEs were 31% and 41%, respectively. AA-MS (35%) was associated with both mortality (all other subtypes versus AA-MS: interstage-I: hazard ratio [HR], 2.7; P=0.006; overall: HR, 2.2; P=0.005) and MAEs (HR, 2.4; P=0.0009). Glob-LV (57%), noticed in all patients with AA-MS, 61% of patients with aortic stenosis-mitral stenosis, and 19% of patients with aortic atresia-mitral atresia, was associated with both mortality (all other left ventricular phenotypes versus Glob-LV: interstage-I: HR, 4.5; P=0.004; overall: HR, 3.4; P=0.0007) and MAEs (HR, 2.7; P=0.0007). There was no difference in mortality and MAEs between patients with AA-MS and without AA-MS with Glob-LV (P>0.15). Patients with AA-MS (35%) or Glob-LV (38%) palliated with a Blalock-Taussig shunt had higher overall mortality compared with those palliated with Sano shunts, irrespective of the stage 1 palliation year (AA-MS: HR, 2.6; P=0.04; Glob-LV: HR, 2.1; P=0.03).

CONCLUSIONS: Glob-LV and AA-MS are independent morphological risk factors for adverse short-and long-term outcome, especially if a Blalock-Taussig shunt is used as part of stage 1 palliation. These findings are important for the clinical management of patients with hypoplastic left heart syndrome.

Place, publisher, year, edition, pages
John Wiley & Sons, 2022
Keywords
adverse outcome, aortic atresia-mitral stenosis, globular left ventricle, hypoplastic left heart, left ventricular morphology
National Category
Cardiac and Cardiovascular Systems
Identifiers
urn:nbn:se:umu:diva-194335 (URN)10.1161/JAHA.121.022929 (DOI)000778262600041 ()35348003 (PubMedID)2-s2.0-85128245385 (Scopus ID)
Funder
Swedish Heart Lung Foundation
Available from: 2022-05-04 Created: 2022-05-04 Last updated: 2022-10-03Bibliographically approved
Charisopoulou, D., Koulaouzidis, G., Rydberg, A. & Henein, M. Y. (2022). Reversed Apico-Basal Myocardial Relaxation Sequence During Exercise in Long QT Syndrome Mutations Carriers With History of Previous Cardiac Events. Frontiers in Physiology, 12, Article ID 780448.
Open this publication in new window or tab >>Reversed Apico-Basal Myocardial Relaxation Sequence During Exercise in Long QT Syndrome Mutations Carriers With History of Previous Cardiac Events
2022 (English)In: Frontiers in Physiology, E-ISSN 1664-042X, Vol. 12, article id 780448Article in journal (Refereed) Published
Abstract [en]

Background: Recent echocardiography studies in inherited long QT syndrome (LQTS) have shown left ventricular (LV) myocardial relaxation disturbances to follow markedly prolonged and dispersed mechanical contraction. Aim: We used speckle-tracking echocardiography to assess disturbances in LV myocardial relaxation sequence during exercise and their relationship to symptoms. Methods: Forty seven LQTS patients (45 ± 15 years, 25 female and 20 symptomatic, LVEF: 65 ± 6%) and 35 controls underwent exercise echocardiogram using Bruce protocol. ECG and echo parameters were recorded at rest, peak exercise (p.e.) and recovery. Results: Between patients and controls there were no differences in age, gender, HR or LVEF. At p.e, patients had longer time to LV longitudinal ESR (tESR) at all three LV segments; basal (p < 0.0001), mid- cavity (p = 0.03) and apical (p = 0.03) whereas at rest such difference was noted only at base (p = 0.0007). Patients showed reversed apico-basal relaxation sequence (ΔtESRbase–apex) with early relaxation onset occurring later at base than at apex, both at rest (49 ± 43 vs. –29 ± 19 ms, p < 0.0001) and at p.e. (46 ± 38 vs. –40 ± 22 ms, p < 0.0001), particularly in symptomatic patients (69 ± 44 vs. 32 ± 26, p < 0.0007). ΔtESRbase–apex correlated with longer QTc interval, lower ESR and attenuated LV stroke volume. Conclusion: LQTS patients show reversed longitudinal relaxation sequence, which worsens with exercise, particularly in those with previous cardiac events.

Place, publisher, year, edition, pages
Frontiers Media S.A., 2022
Keywords
arrhythmia, diastolic function, exercise stress echocardiogram, long QT syndrome, myocardial relaxation sequence, speckle-tracking echocardiography
National Category
Cardiac and Cardiovascular Systems
Identifiers
urn:nbn:se:umu:diva-192781 (URN)10.3389/fphys.2021.780448 (DOI)000760694500001 ()35197859 (PubMedID)2-s2.0-85124992601 (Scopus ID)
Available from: 2022-03-09 Created: 2022-03-09 Last updated: 2024-01-17Bibliographically approved
van der Crabben, S. N., Mörner, S., Lundström, A., Jonasson, J., Bikker, H., Amin, A. S., . . . Wilde, A. A. M. (2022). Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?. European Journal of Human Genetics, 30, 1208-1210
Open this publication in new window or tab >>Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?
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2022 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 30, p. 1208-1210Article in journal, Editorial material (Refereed) Published
Place, publisher, year, edition, pages
Springer Nature, 2022
National Category
Medical Genetics
Identifiers
urn:nbn:se:umu:diva-199393 (URN)10.1038/s41431-022-01173-z (DOI)000844578000001 ()36008533 (PubMedID)2-s2.0-85137082057 (Scopus ID)
Available from: 2022-09-29 Created: 2022-09-29 Last updated: 2023-05-25Bibliographically approved
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ORCID iD: ORCID iD iconorcid.org/0000-0001-9655-7783

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