Webinar 2 - A multi-disciplinary approach to Noonan Syndrome


Webinar 2 Video: A multi-disciplinary approach to Noonan Syndrome

Professor Mehul Dattani (London, UK)

Date: Tuesday 12 October 2021


  • Introduction and welcome - Professor Mehul Dattani (London, UK)
  • Cardiac Associations – Dr Juan Pablo Kaski (London, UK)
  • Genetics of Noonan Syndrome – Dr Emma Burkitt Wright (Manchester, UK)
  • Endocrine Aspects - Professor Bradley Miller (Minnesota, USA)
  • Panel Discussion
  • Webinar Close - Professor Mehul Dattani (London, UK)


Dr Juan Pablo Kaski MD (Res) FRCP FESC

Dr Kaski is Associate Professor of Paediatric Inherited Cardiology at the UCL Institute of Cardiovascular Science, where he is lead of the UCL Centre for Paediatric Inherited and Rare Cardiovascular Diseases, and Consultant Paediatric Cardiologist at Great Ormond Street Hospital (GOSH), London, UK. He is the Director of the GOSH Centre for Inherited Cardiovascular Diseases, the largest centre in Europe dedicated to the investigation and management of inherited cardiac conditions in childhood. Dr Kaski’s clinical and research interests are focused on the clinical and genetic characterisation of inherited cardiovascular disease and sudden cardiac death in childhood and he won the Young Investigator Award for Clinical Science from the European Society of Cardiology in 2008 for his work on the genetic basis of pre-adolescent hypertrophic cardiomyopathy. He is immediate past-Chair of the Association for European Paediatric Cardiology (AEPC) Working Group on Genetics, Basic Science and Myocardial Disease and sits on the Executive Board of the European Society of Cardiology (ESC) Cardiomyopathy and Myocarditis Registry Programme and the ESC Council on Cardiovascular Genomics. He leads an international paediatric HCM consortium of over 45 centres, which was responsible for the development of the first sudden death risk prediction model for childhood HCM.

A summary of Dr Kaski’s talk

Noonan syndrome and related disorders of the RAS-MAPK pathway (“RASopathies”) are a group of developmental syndromes associated with multiple organ involvement. Cardiovascular manifestations are common, and most commonly include pulmonary valve stenosis and hypertrophic cardiomyopathy. This talk will highlight the clinical features and natural history of cardiovascular disease in the RASopathies, and discuss current and novel treatments. The talk will also highlight issues around growth hormone therapy in the RASopathies and the potential effects on the heart.

Learning objectives of Dr Kaski’s Talk

  • To understand how the heart can be involved in RASopthy syndromes
  • To gain an insight into new treatments for cardiac disease in Rasopthy syndromes

Dr Emma Burkitt Wright MBChB PhD FRCP


Dr Burkitt Wright is a consultant clinical geneticist in the Manchester Centre for Genomic Medicine, and honorary senior lecturer at the University of Manchester. Her PhD on germline disorders of the Ras-MAPK pathway, funded by a Wellcome Trust clinical research training fellowship, was awarded in 2014. The majority of her clinical commitments revolve around Ras-MAPK pathway disorders, in a clinic for patients with Noonan, Costello and cardiofaciocutaneous syndromes and within the multidisciplinary NHS nationally commissioned highly specialised service for patients with complex neurofibromatosis type I.

Learning Objectives of Dr Wright’s Talk

  • Genetic basis of Noonan syndrome
  • Evolving spectrum of clinical features of Noonan syndrome Genotype-phenotype correlation across germline Ras-MAPK pathway disorders

Professor Bradley S Miller, MD, PhD

Professor, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN

Dr Miller earned both his medical and PhD degree (Pharmacology) from the Medical University of South Carolina in Charleston, SC. His medical training includes a pediatric residency and pediatric endocrinology fellowship at the Mayo Graduate School of Medicine in Rochester, MN. Board certified in pediatrics and pediatric endocrinology, Dr Miller joined the University of Minnesota Medical School in 2003, where, besides holding the role of Professor with the Department of Pediatrics, he is also Director of the Division of Pediatric Endocrinology and Director of both the Pediatric Growth Program and the Pediatric Bone Clinic.

Dr. Miller has an interest in the role of the growth hormone/IGF system and the regulation of growth at the growth plate in normal and abnormal growth in children. Dr. Miller is also interested in the bone health, growth, and pubertal development of children with rare diseases and following adversity including hematopoietic stem cell transplant, cancer and its therapies, fetal alcohol exposure, premature birth and international adoption.

Learning Objectives of Professor Miller’s Talk

  • Endocrine Aspects of Noonan Syndrome
  • Growth in Noonan Syndrome
  • Growth Hormone Therapy in Noonan Syndrome 

This ESPE Connect Webinar was kindly supported by