Cardiac response to water activities in children with Long QT syndrome type 1.

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.

Aberrant autonomic pattern during the post-exercise recovery phase in long QT syndrome patients.

OBJECTIVES: It is well-established that the autonomic nervous system (ANS) plays a central role in arrhythmogenesis. During and after exercise the ANS is particularly active, and since long QT syndrome (LQTS) patients have an increased risk of lethal arrhythmias during physical activity, it is important to investigate the autonomic function in these patients. In this study we investigate the ANS response during and after exercise in LQTS patients and healthy age and sex matched controls. METHODS: Forty-four genotype-verified adult LQTS patients and forty-four healthy age- and sex-matched controls performed a submaximal bicycle exercise stress test. Heart rate recovery (HRR) and heart rate variability (HRV) were analyzed from registered electrocardiogram (ECG) and vector electrocardiogram (VCG) recordings collected throughout rest, exercise and in the post-exercise phase. RESULTS: LQTS patients had a slower HRR than controls at 1- and 4-min post-exercise (p < 0.001). During the post-exercise phase, LQTS patients had a lower total power (p < 0.001), low frequency power (p < 0.001) and high frequency power (p < 0.001) than controls. In the same phase, LQTS patients off betablocker (BB) treatment showed a lower high frequency power (p = 0.01) and different low frequency/high frequency ratio (p = 0.003) when comparing with LQTS patients on BB treatment. CONCLUSIONS: The parasympathetic effect on both HRR and HRV after exercise appears depressed in this LQTS patient cohort compared to healthy controls. This indicates an aberrant ANS response during the post-exercise phase which might be compensated by BB treatment. Our findings emphasize the importance of performing further investigations to identify the role of the ANS in LQTS arrhythmogenesis.

[Experiences from a multidisciplinary cardiogenetic clinic]. / Ärftliga hjärt­kärlsjukdomar ­ ett multidisciplinärt arbetssätt krävs.

Comprehensive genetic and clinical care of families with monogenic cardiovascular diseases requires competences from different medical specialties. Genetic assessment, cascade screening, risk estimation, treatment and follow-up is difficult to cover. Fourteen years ago, a center for cardiovascular diseases was created in our hospital, to improve the care of families with monogenic cardiovascular diseases. At our center, clinical geneticists, cardiologists, angiologists, pediatric cardiologists and genetic counselors work together in a seamless organization, while still having different clinic affiliations. A key feature of this organization are the family outpatient clinics, where the proband and his/her relatives at genetic risk are invited to take part. When the family or relatives live in other parts of the country, they are invited to participate through video conference.  In this paper we report our experiences and working routines from more than 300 families and 2000 individuals.

Neuronal adaptation in the human retina: a study of the single oscillatory response in dark adaptation and mesopic background illumination.

PURPOSE: The single oscillatory response in complete dark adaptation (DA) and the effect of mesopic illumination were studied in order to investigate the behaviour of the neuronal adaptation system as reflected in the oscillatory potentials (OPs) of the electroretinogram (ERG). METHODS: The rapid oscillatory and slow components (a- and b-waves) of single ERGs were simultaneously recorded in nine healthy, young subjects in response to first flash after both DA of 45 mins and light adaptation to a steady background light (BGL) of low mesopic intensity. RESULTS: Two low-amplitude oscillatory peaks were present in the single response to the first flash recorded in DA. There was no increase in the summed amplitudes of the OPs (SOP) when recorded in the single response to the first flash in mesopic BGL. However, the morphology of the oscillatory response altered. The first OP was reduced and a third oscillatory peak appeared. CONCLUSIONS: We conclude that early, scotopically related OPs may indeed be activated in the single response to the first flash in DA (i.e. without using conditioning flashes). Secondly, on its own, adaptation to mesopic BGL does not seem to trigger enhancement of the overall oscillatory response. The altered single oscillatory response to the first flash apparent in the mesopic BGL comprises a third cone-associated OP and seems to reflect a reorganization of the retinal microcircuitry from a predominantly rod-activated system to one of mixed rod/cone neuronal activity in the inner part of the retina at the level at which individual OPs have their respective origins.