UCL Institute of Cardiovascular Science


João Bicho Augusto

PhD Project Title: Understanding Cardiovascular Mechanisms of Anderson-Fabry Disease.

Picture of Joao

Supervisors: Prof James Moon, Prof Derralynn Hughes

Lay summary:

Anderson-Fabry disease (FD) is an inherited disease caused by a mutation in a gene (GLA gene) which is found in the X chromosome. The consequence of this mutation is a deficient enzyme (α-Galactosidase A) which hinders the processing of specific types of fat called sphingolipids. These fatty molecules progressively accumulate in every cell of the body and can lead to inflammation and scar in several organs. Cardiac involvement is however the leading cause of death in FD. Treatment for FD such as intravenous enzyme replacement or newer oral treatments that increase the enzyme activity levels are now available and seem to at least delay cardiac disease progression.
The development of more advanced imaging techniques has increased our knowledge of FD. We can now indirectly assess fatty storage in the heart muscle (which is associated with increased heart thickness / hypertrophy) as well as inflammation and scar using cardiovascular magnetic resonance (CMR). In this project, we will use CMR to characterize the heart involvement in patients with FD, how these CMR parameters change over time and what factors affect their progression/regression. Greater understanding of FD using CMR has the potential to improve diagnosis and identify new targets for therapies in FD.

My Background 

From my early life that I have always been interested in Biology and Medicine. When I was a child I remember watching an animated television series called “Once Upon a Time... Life” (original - Il était une fois... la vie) which told the story of the human body. I fell in love with the characters and with the story of how our bodies work and what makes us ill. In retrospective, it was probably then that I decided I wanted to be a doctor.
I have studied medicine at the University of Lisbon, in Portugal, and I always found interesting how both
complex and mechanistic the heart can be. I did my Master’s degree on congenital coronary artery anomalies and I started my training in Cardiology, which paved my way to research in this area. My research always had a common theme – cardiomyopathy and cardiac imaging. Cardiovascular magnetic resonance (CMR) however is at the forefront of cardiomyopathy assessment. It was then that I decided to further improve my knowledge in CMR doing a clinical fellowship at the Barts Heart Centre under Professor James Moon. I came in contact for the first time with a Fabry patient and my interest grew on how peculiar the heart changes were. This all has led me to do research on the mechanisms of Fabry disease and how CMR can help these patients. 


  • 2012 – MBBS, Faculty of Medicine – University of Lisbon, Portugal
  • 2012 – MSc(hon), Faculty of Medicine – University of Lisbon, Portugal 


  •   Adult Cardiac MRI (EACVI theoretical exam approval) – 2018
  •   Adult Transthoracic Echocardiogram (EACVI – level 3) – 2018
  •   Adult Transoesophageal Echocardiogram  (EACVI – level 3) – 2017
  •   Cardiac CT (British Society of Cardiac CT – level 1) – 2017
  •   Acute Cardiovascular Care (ACCA – level 1) – 2016


  • 2018 – Awarded the “ESC Congress Educational Grant” of the European Society of Cardiology to participate in the ESC Congress 2018.
  • 2018 – Best poster (ESC Congress 2018, Munich, Germany)
  • 2016 – Young Investigator Award Finalist (Acute Cardiovascular Care, 2016, Lisbon, Portugal)
  • 2015 – Best investigator award "Challenges in Cardiology 2015" (Leiria, Portugal).
  • 2018 –        PhD student, University College London, London
  • 2017 –         Clinical Research Fellow, Barts Heart Centre, London
  • 2014 – 2017        Resident in Cardiology, Hospital Prof Doutor Fernando Fonseca, Lisbon, Portugal

Scientific Societies Memberships:  

  • European Society of Cardiology – 2018
  • Portuguese Cardiology Society – 2017
  • European Association of Cardiovascular Imaging – 2016
  • Acute Cardiac Care Association – 2016
  • Portuguese Medical Association – 2012


  •     Clinical Cases Reports – Wiley, 2018
  •     Open Heart journal – British Medical Journal, 2016

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