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.
Azevedo Coutinho, Conceição, MD PhD
Medical Degree (MD) by the Lisbon School of Medicine, Universidade de Lisboa, Portugal (1977).
PhD Degree in Medicine/Cardiology by the Lisbon School of Medicine, Universidade de Lisboa, Portugal (1994).
Internship of Cardiology in the Department of Cardiology – Santa Maria University Hospital – CHULN EPE, Lisbon (1982-85). Post-Doctoral Research and Clinical Fellow at Columbia University College of Physicians and Surgeons, New York (1985-88). Elective periods of training in Nuclear Cardiology at Columbia Presbyterian Medical Center (1990 and 1991; grants from Fundação Luso-Americana para o Desenvolvimento and Fundação Calouste Gulbenkian)
Cardiology Consultant of the Department of Cardiology, Santa Maria University Hospital – CHULN EPE, Lisbon (since 1998). Coordinator of the TTR-V30M cardiac amyloidosis unit (since 1998). Associate Professor of the Lisbon School of Medicine, Universidade de Lisboa, Portugal (since 2009). Principal Investigator of the Cardiovascular Centre of the University of Lisbon (CCUL).
Fellow of the American College of Cardiology (FACC), Fellow of the European Society of Cardiology (FESC), Member of the Portuguese Society of Cardiology. Vice President of the Portuguese Society of Cardiology (2001-2003). Member of the Working Group on Nuclear Cardiology and Cardiac Computed Tomography of the European Society of Cardiology and Member of the Working Group on Nuclear Cardiology, Magnetic Resonance, and Computed Tomography of the Portuguese Society of Cardiology. ORCID ID: 0000-0002-4378-0460
Cantinho, Guilhermina, MD
Graduated in Medicine by the Lisbon Faculty of Medicine in 1978.
Between 1984 and 1986, she underwent specific residency training in Nuclear Medicine at Instituto Português de Oncologia de Lisboa.
In 1986, she started functions as Trainee Assistant of the Nuclear Medicine at the Lisbon School of Medicine of Universidade de Lisboa.
Since 1988, she is the Nuclear Medicine Specialist responsible at the Nuclear Medicine Institute of Lisbon School of Medicine.
In 1991 she was unanimously approved with distinction and honor in the Pedagogical Aptitude and Scientific Capacity tests and in 1995, she was admitted as Research Assistant at the Faculty of Medicine of Lisbon.
From 1994 to 1996 and from 2016 to the present, she is member of the College Board of the Nuclear Medicine Specialty.
She was President of the Portuguese Society of Nuclear Medicine from 2006 to 2010.
From 1987 she has teaching Nuclear Medicine, at the Medicine Faculty of Lisbon.
From 2009, she is invited Professor and Director of the Nuclear Medicine.
Since 1992, she has also been collaborating in Nuclear Medicine module of the Master in Biophysics – branch of Medical Physics and Biomedical Engineering, Instituto Superior Técnico Lisbon (IST) and in the Master of Security and Radiological Protection also by IST.
She won the Pfizer Investigation 1989 (Medical Sciences Society)-2nd Prize, the Thomé Villar 1993 (Portuguese Society of Respiratory Pathology)-1st Prize.
In the XI Portuguese Nuclear Medicine Congress (Porto 2007) the “Best Work” prize and the International award of the American Society of Nuclear Cardiology Congress (Athens 1999) for “Best of Country and Region”
Her work has been distinguished as a competitor to the “Best Cardiology Work” by thSociety of Nuclear Medicine and Molecular Imaging (SNM) at the 59th Annual Meeting, in Miami Beach, FL, USA, in June 2012
She also has a selected cardiology work as a competitor for the Marie-Curie Award EANM’12, in Milano, Italia, in October 2012.
She is the co-author of more 20 National and International Published Papers.
Conceição, Isabel, MD
Researcher in iMM and Collaborator in CCUL.
Consultant in Neurology and Clinical Neurophysiology at the Department of Neurosciences, CHULN, Hospital de Santa Maria in Lisbon, Portugal since 1999, where she is also the Head of the Electromyography/Evoked Potentials laboratory.
Head of the Familial Amyloid Polyneuropathy Outpatient Unit since 2004 and coordinator of the reference centre for Familial Amyloid Neuropathy at Centro Hospitalar Uiversitário Lisboa Norte since 2015. Other positions include invited assistant of Physiology at the Translational and Clinical Physiology Unit and clinical investigator at the Neuromuscular Research Unit, both within the Centro Académico de Lisboa, Lisbon School of Medicine of the Universidade de Lisboa, Portugal.
Board member the Portuguese Society of Neuromuscular Disorders, the Portuguese Society of EEG and Clinical Neurophysiology and on the EAN Scientific Panel Neuropathies for 2018 – 2019. Her research main interests include neuromuscular disorders and clinical neurophysiology.
Susana Gonçalves is currently working as a Senior Echocardiographer at the Cardiology Department, Santa Maria 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 Cardiology Department, Santa Maria 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.
Co-Researcher in Valvular Heart Disease and Pulmonary Hypertension
Laura Santos is currently working as an Echocardiographer at the Cardiology Department, Santa Maria University Hospital – CHULN, E.P.E, Lisbon, Portugal, since 2007, 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, transesophageal, 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 2009 and participates in the training of the medical students from the Cardiology Department, Santa Maria University Hospital – CHULN, E.P.E, Lisbon, Portugal and other hospitals. Laura Santos also participates in several research projects at Department of Cardiology. Laura Santos is certified by European Association of Echocardiography – European Society of Cardiology with the “Accreditation in Adult Transthoracic Echocardiography” since 2009.