Fabio de Souza, MD, PhD
Federal University of the State of Rio de Janeiro- UNIRIO
Rio de Janeiro, Brazil

Introduction:
Hereditary transthyretin amyloidosis (ATTRv) is described using neurological or cardiac references. Optimal screening for heart disease is often unavailable in our clinical practice.
Methods:
Cross-sectional evaluation of ATTRv patients followed at a reference center of a university hospital in Brazil. Data regarding genotype, phenotype and cardiological screening were collected from medical records. We considered cardiac involvement when interventricular septum (IVS) ≥ 12 mm. Global longitudinal strain (GLS) by speckle-tracking echocardiography (2D-STE) was reduced when <20%. Confirmatory tests were pyrophosphate scintigraphy (PYP) Perugini score grade 2/3 or magnetic resonance imaging (MRI) with typical late gadolinium enhancement (LGE) pattern and increased extracellular volume (ECV).
Results: A total of 73 patients were evaluated; 13 (17.8%) patients presented IVS ≥ 12 mm (median 13 mm, IQR 12-17); GLS was reduced in 11(84%) of 13 patients with IVS thickening. PYP was performed in 10 cases (77%) with positive results in all of them; MRI was performed in only in 5 (38%) patients, showing typical LGE and increased ECV (median 43%, IQR 36-58). Val122Ile occurred in 6 (46%), Val30Met in 6 and Ala39Asp in 1 patient. Mixed phenotype occurred in 12 (92%) where Val122Ile patients presented with milder neuropathy and were older than Val30Met (NIS score 10 [3-12] vs 71 [34-121] and 72 [65-84] vs 62 [52-71] years, respectively).
Conclusion:
In ATTRv patients, 2D-STE screening with IVS ≥ 12 mm and GLS <20% was highly efficient for diagnosing cardiac involvement. Furthermore, Val122Ile genotype commonly presented with mixed phenotype associated with mild neuropathy in our sample.

Fabio de Souza, MD, PhD
Federal University of the State of Rio de Janeiro- UNIRIO
Rio de Janeiro, Brazil

**Introduction:**
Hereditary transthyretin amyloidosis (ATTRv) is described using neurological or cardiac references. Optimal screening for heart disease is often unavailable in our clinical practice.
**Methods:**
Cross-sectional evaluation of ATTRv patients followed at a reference center of a university hospital in Brazil. Data regarding genotype, phenotype and cardiological screening were collected from medical records. We considered cardiac involvement when interventricular septum (IVS) ≥ 12 mm. Global longitudinal strain (GLS) by speckle-tracking echocardiography (2D-STE) was reduced when <20%. Confirmatory tests were pyrophosphate scintigraphy (PYP) Perugini score grade 2/3 or magnetic resonance imaging (MRI) with typical late gadolinium enhancement (LGE) pattern and increased extracellular volume (ECV).
**Results:** A total of 73 patients were evaluated; 13 (17.8%) patients presented IVS ≥ 12 mm (median 13 mm, IQR 12-17); GLS was reduced in 11(84%) of 13 patients with IVS thickening. PYP was performed in 10 cases (77%) with positive results in all of them; MRI was performed in only in 5 (38%) patients, showing typical LGE and increased ECV (median 43%, IQR 36-58). Val122Ile occurred in 6 (46%), Val30Met in 6 and Ala39Asp in 1 patient. Mixed phenotype occurred in 12 (92%) where Val122Ile patients presented with milder neuropathy and were older than Val30Met (NIS score 10 [3-12] _vs_ 71 [34-121] and 72 [65-84] _vs_ 62 [52-71] years, respectively).
**Conclusion:**
In ATTRv patients, 2D-STE screening with IVS ≥ 12 mm and GLS <20% was highly efficient for diagnosing cardiac involvement. Furthermore, Val122Ile genotype commonly presented with mixed phenotype associated with mild neuropathy in our sample.

Screening and profile of cardiac involvement in patients with hereditary transthyretin amyloidosis from a reference center in Brazil. PB100 (#94)

We invite you to attend the XIX International Symposium on Amyloidosis to be held in Rochester, MN.

This symposium is organized as a hybrid meeting (with the focus on in-person) held from Sunday, May 26 through Thursday, May 30, 2024.

Together with the ISA Board and members of Mayo Clinic, a very attractive scientific hybrid program is being planned. The program will cover a variety of types of systemic amyloidosis: ATTR (hereditary and wild-type), AL (light-chain), AA and less frequent forms. There will be key lectures, specific symposia including those company sponsored, oral presentations and poster sessions of accepted abstracts.

COURSE DESCRIPTION
This program will provide a comprehensive review of state-of-the-art education in systemic amyloidosis: basic science, pathophysiology, diagnosis, current and emerging treatments. Scientific presentations will include competitive oral and poster abstracts. The rapid evolution of scientific discovery and expanding treatment options has created tremendous interest in the field and this meeting will fill and important gap in educating scientists and clinicians.