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
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