PARAMYLOIDOSIS
Transthyretin V30M (TTR-V30M) familial amyloid polyneuropathy (FAP) is a progressive and fatal disease with a high prevalence in Portugal. Several promising therapies are in progress and there is a growing need of a simple non-invasive test for the early diagnosis of patients with cardiac TTR amyloidosis who may benefit from these treatments.
99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) scintigraphy have shown to be highly sensitive for the early diagnosis of cardiac TTR amyloidosis. However, our data involving the largest cohort of patients, representative of the full clinical spectrum of TTR-V30M amyloidosis, suggests that 99mTc-DPD imaging has a lower diagnostic accuracy for detecting amyloid cardiomyopathy than in other forms of TTR and is strongly influenced by the age of the disease onset, being more frequent in patients with late-onset disease and rare in those with early-onset, even in the presence of overt cardiac involvement. The Swedish investigators have identified two different types of amyloid fibrils in patients with TTR-V30M that determine the disease phenotype and the ability to DPD retention.
Our goal is to proceed with this investigation in a multicenter study with histological analysis in order to confirm these observations and elucidate the mechanism by which DPD binds to TTR amyloidosis and whether DPD imaging has an impact on therapeutic options and prognosis.
RESEARCH TEAM
Azevedo Coutinho, Conceição, MD, PhD
GROUP LEADER
Isabel Coutinho obtained her MD from the Lisbon School of Medicine, Universidade de Lisboa, Portugal, in 1977, and her PhD in Medicine/Cardiology from the same institution in 1994. She completed her residency in Cardiology at the Department of Cardiology, Santa Maria University Hospital – CHULN, Lisbon (1982–1985), and pursued postdoctoral research and a clinical fellowship at Columbia University College of Physicians and Surgeons, New York (1985–1988). She also undertook elective training in Nuclear Cardiology at Columbia Presbyterian Medical Center (1990 and 1991), supported by grants from Fundação Luso-Americana para o Desenvolvimento and Fundação Calouste Gulbenkian.
Since 1998, she has been Consultant Cardiologist at Santa Maria University Hospital, where she coordinates the TTR-V30M Cardiac Amyloidosis Unit. She is Associate Professor at the Lisbon School of Medicine (since 2009) and Principal Investigator at the Cardiovascular Centre of the University of Lisbon (CCUL).
Prof. Coutinho is a Fellow of the American College of Cardiology (FACC) and the European Society of Cardiology (FESC), and a member of the Portuguese Society of Cardiology, where she served as Vice President (2001–2003). She is also a member of the Working Group on Nuclear Cardiology and Cardiac Computed Tomography of the European Society of Cardiology, and the Working Group on Nuclear Cardiology, Magnetic Resonance, and Computed Tomography of the Portuguese Society of Cardiology.
ORCID ID: 0000-0002-4378-0460
E-mail: cacoutinho@sapo.pt
Cortez-Dias, Nuno, MD, PhD
Researcher
ORCID: 0000-0002-9244-4631
E-mail: cortezdias@yahoo.com
Co-Researcher in Cardiac Rhythm Abnormalities
Conceição, Isabel, MD
Researcher
Isabel Conceição has been Consultant in Neurology and Clinical Neurophysiology at the Department of Neurosciences, Santa Maria Hospital – CHULN, Lisbon, since 1999. She is also Head of the Electromyography and Evoked Potentials Laboratory, and since 2004 has led the Familial Amyloid Polyneuropathy (FAP) Outpatient Unit. In 2015, she became Coordinator of the Reference Centre for Familial Amyloid Neuropathy at Centro Hospitalar Universitário Lisboa Norte.
Her academic roles include serving as Invited Assistant in Physiology at the Translational and Clinical Physiology Unit and as Clinical Investigator at the Neuromuscular Research Unit, both within the Centro Académico de Lisboa, Lisbon School of Medicine, Universidade de Lisboa.
She is a board member of the Portuguese Society of Neuromuscular Disorders and of the Portuguese Society of EEG and Clinical Neurophysiology, and served on the EAN Scientific Panel on Neuropathies for the 2018–2019 term.
Her main research interests focus on neuromuscular disorders and clinical neurophysiology.
Email: imsconceicao@gmail.com
Cantinho, Guilhermina, MD
Researcher
Guilhermina graduated in Medicine from the Faculty of Medicine, University of Lisbon, in 1978. Between 1984 and 1986, she completed her residency in Nuclear Medicine at the Portuguese Institute of Oncology, Lisbon. In 1986, she began her academic career as a Trainee Assistant in Nuclear Medicine at the Lisbon School of Medicine, Universidade de Lisboa, and since 1988 has been the Nuclear Medicine Specialist responsible for the Nuclear Medicine Institute of the same school. In 1991, she was unanimously approved with distinction and honors in the Pedagogical Aptitude and Scientific Capacity examinations, and in 1995 was appointed Research Assistant at the Faculty of Medicine, University of Lisbon.
She has served as a member of the College Board of the Nuclear Medicine Specialty (1994–1996 and since 2016) and as President of the Portuguese Society of Nuclear Medicine (2006–2010). Since 1987, she has been teaching Nuclear Medicine at the Faculty of Medicine, University of Lisbon, where she has held the position of Invited Professor and Director of Nuclear Medicine since 2009. She has also contributed to postgraduate training, teaching in the Master’s in Biophysics – Medical Physics and Biomedical Engineering branch, and in the Master’s in Safety and Radiological Protection, both at Instituto Superior Técnico (IST), Lisbon.
Her research has been recognized with several scientific awards, including the Pfizer Research Award (1989), the Thomé Villar Award (1993), Best Work at the XI Portuguese Nuclear Medicine Congress (2007), and Best of Country and Region at the American Society of Nuclear Cardiology Congress (1999). Her work was also selected for competition as Best Cardiology Work at the Society of Nuclear Medicine and Molecular Imaging (SNMMI) 59th Annual Meeting (2012, Miami Beach, USA), and for the Marie Curie Award at EANM’12 (2012, Milan, Italy).
She is co-author of more than 20 national and international publications.
Gonçalves, Susana, MSc
Researcher
Susana Gonçalves is currently working as a Senior Echocardiographer at department of Cardiology- Santa Maria University Hospital – CHULN, E.P.E., Lisbon, Portugal where she has been in this position since 2001. At present she is performing and reporting cardiac ultrasound tests (2D, M Mode, Doppler, Tissue Doppler, Strain and Strain Rate Imaging, Speckle tracking, 4D), and assisting the team in the performance of echocardiography stress tests, transoesophageal, and contrast echocardiography. Additionally, she is a supervisor of the echocardiography traineeships of cardiopulmonary technicians from Escola Superior de Tecnologia de Saúde de Lisboa since 2002 and participates in the training of the medical students from the Department of Cardiology, Santa Maria University Hospital – CHULN, E.P.E., Lisbon, Portugal.
Susana Gonçalves participated in several research projects at Department of Cardiology where she is also responsible for the coordination, monitoring and quality control of the cardiopulmonary technicians research work since 2008. She is certified by European Association of Echocardiography – European Society of Cardiology with the “Accreditation in Adult Transthoracic Echocardiography “since 2009.
ORCID: 0000-0002-0662-328X
E-mail: susanafdgpires@gmail.com
Co-Researcher in Valvular Heart Disease and Pulmonary Hypertension
Marques, Pedro, MD
Researcher
ORCID: 0000-0003-0980-7102
Email: pedroncmarques@gmail.com
Co-Researcher in Cardiac Rhythm Abnormalities