ORCHID Annual Report 2024 - Flipbook - Page 23
Peer reviewed publications
Blanco E, Camps C, Bahal S, Kerai MD, Ferla MP, Rochussen AM, Handel
AE, Golwala ZM, Spiridou Goncalves H, Kricke S, Klein F, Zhang F,
Zinghirino F, Evans G, Keane TM, Lizot S, Kusters MAA, Iro MA, Patel SV,
Morris EC, Burns SO, Radcliffe R, Vasudevan P, Price A, Gillham O,
Valdebenito GE, Stewart GS, Worth A, Adams SP, Duchen M, André I,
Adams DJ, Santili G, Gilmour KC, Holländer GA, Davies EG, Taylor JC,
Griffiths GM, Thrasher AJ, Dhalla F, Kreins AY. (2024) Dominant negative
variants in ITPR3 impair T cell Ca2+ dynamics causing combined
immunodeficiency. Journal of Experimental Medicine. 222(1): e20220979.
https://doi.org/10.1084/jem.20220979
Invited talks
Kricke S. The Role of Microchimerism Detection In Paediatric Transplantation
Science. Children9s Hospital of Philadelphia Virtual Grand Rounds,
September 2024
Jennifer Tollit
BA(Hons) MSc RCN
British Heart Foundation Research Training Fellowship for Nurses and
AHPs
Department of Children’s Cardiovascular Disease, UCL Institute of
Cardiovascular Science & Great Ormond Street Hospital
Study Title: Diagnostic Yield and Psychosocial Impact of Clinical Screening
for Sudden Arrhythmic Death Syndrome and Unexplained Cardiac Arrest in
Paediatric First-Degree Relatives
Supervisors: Professor Juan Pablo Kaski, Professor Jo Wray
January 2024 – January 2027
Sudden Arrhythmic Death Syndrome (SADS) accounts for around 500 deaths
per year in the UK and is defined as a sudden and unexpected death with a
structurally normal heart for which no cause can be found despite a thorough
post-mortem. Following comprehensive cardiological evaluation, up to 50% of
first-degree relatives of SADS victims will be identified to have an Inherited
Cardiac Condition (ICC).
Current guidelines for first-degree relatives of SADS, Sudden Infant Death
Syndrome (SIDS) and Unexplained Cardiac Arrest (UCA) recommend
comprehensive cardiological investigation in order to diagnose potential
Inherited Cardiac Conditions (ICCs). It is widely accepted practice to screen
paediatric first-degree relatives regularly until adulthood, but there are limited
data on the yield of this approach and the frequency and nature of follow-up
are not widely defined.
These sudden and unexpected deaths are devastating events for these
families, with the stress then heightened by the probability that it has been
caused by a hitherto unknown ICC, but the psychosocial impact of this has
not been previously systematically investigated in a paediatric population. In
addition, there are no data on the potential psychological, social and
emotional impacts of the nature of the screening process itself in childhood.
This study aims to:
1. Describe the clinical yield of serial screening in a large retrospective cohort of
children and young people seen at the Great Ormond Street Hospital centre
for Inherited Cardiovascular Disease
2. Use a mixed methods design, including semi-structured interviews and
questionnaires to explore the psychological impact of screening
Digital Profile
ORCiD ID: 0000-0003-1694-3559
Peer reviewed publications:
Tollit J, Oates S, Odori A, Smyth S, Kaski JP & Field E. (2024) Caring for
children and young people with inherited cardiac conditions: the evolving role
of
specialist
nurses,
Nursing
Children
and
Young
People.
https://doi.org/10.7748/ncyp.2024.e1532
Tollit J, Tu IT, Field E, Norrish G & Kaski JP. (2024) Diagnostic yield of
clinical cardiac screening in first-degree relatives of SADS and unexplained
cardiac arrest probands: a systematic review of the literature European Heart
Journal 45(S1) .https://doi.org/10.1093/ehae666.677
Tollit J, Norrish G, Boleti O, Field E & Kaski JP. (2024) Diagnostic yield of
arrhythmogenic right ventricular cardiomyopathy (ARVC) in paediatric
relatives of probands with SADS versus non-diagnostic post-mortems Heart.
https://doi.org/10.1136/heartjnl-2024-BCS.5
Editorial:
Tollit J, Wray J. (2024) Adverse and positive experiences in childhood and
improving cardiovascular health – a challenge for us all. International Journal
of Cardiology, 415.https://doi.org/1016/j.ijcard.2024.132367
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