Author + information
- Raul A. Garcia,
- Sadeer Al-Kindi,
- Babbaljeet Kaur,
- Safwan Gaznabi,
- Omar M. Siddiqui,
- Maria Martinelli,
- Mary Okorn,
- Miroslav Sekulic and
- Oliveira H. Guilherme
Imaging with technetium pyrophosphate (99mTc-PYP) and a pathologic mutation are sufficient to initiate tafamidis therapy for hereditary cardiac amyloid transthyretin (h-ATTR), but a negative biopsy poses significant challenges.
A 61 year old African American (AA) female, whose mother has biopsy-confirmed Val122Ile mutated h-ATTR cardiac amyloidosis (CA), was evaluated. She had mild exertional dyspnea and normal BNP, troponin and strain echocardiography (Figure 1A).
Val122Ile mutation was present, common in AA with h-ATTR CA1-2. 99mTc-PYP imaging (Figure 1B) showed grade 3 uptake and a heart to contralateral lung (H/CL) ratio of 1.52. Endomyocardial biopsy (Figure 1C) was negative. MRI was ordered and tafamadis therapy is planned for our genotype positive, biopsy negative, yet, intermediate risk patient.
A H/CL >1.5 on PYP scan can detect ATTR CA with a 97% sensitivity and 100% specificity3. In this case H/CL was elevated despite a negative biopsy, which is rare4. In such patients, who also have a confirmed pathological Val122Ile mutation (a variant of h-ATTR that is more aggressive than the wild type), several aspects require consideration: actual presence/absence of CA versus positive genotype with quiescent disease; yield of PYP in those with suspected early, quiescent disease; and role of repeat PYP imaging, biopsy and/or other testing in those with h-ATTR CA.
Posters Hall_Hall A
Monday, March 30, 2020, 9:45 a.m.-10:30 a.m.
Session Title: FIT Clinical Decision Making: Heart Failure and Cardiomyopathies 7
Abstract Category: Heart Failure and Cardiomyopathies
Presentation Number: 1438-355
- 2020 American College of Cardiology Foundation