Author Listing - Lead/ Submitting Author (we will be communicating with this individual): Name, Institution, City and State where the work was done. Co-authors will be added in a separate section.
Xia Wu, Division of Hematology-Oncology, Department of Medicine, Tufts Medical Center, Boston, MA

Main Body of the Abstract
Background
In cardiac amyloidosis, clinicians may infer that light-chain amyloidosis (AL) is the diagnosis given a monoclonal gammopathy, or mutated transthyretin (TTR) is the diagnosis given a mutated TTR gene. However, “Occam’s Razor” can be misleading. We present an instructive case of cardiac amyloidosis with both monoclonal proteins and TTR mutation
Case report
A 63-year-old black woman presented with progressive exertional dyspnea. Transthoracic echocardiogram demonstrated left ventricular wall thickening and ejection fraction of 45% with grade III diastolic dysfunction. NT-pro BNP was elevated to 1691 pg/mL and the troponin I to 0.36 ng/mL. Serum protein studies detected κ light chains, measured at 664 mg/L with a κ:λ ratio of 16.5. A clonal plasma cell population of 20-30% was detected in the bone marrow with positive Congo red staining.
Typing by liquid chromatography-coupled tandem mass spectrometry (LC/MS) confirmed AL, κ-type. On family history multiple members had died of heart disease. Given the patient’s race and family history we also performed TTR gene sequencing, detecting a heterozygous V122I TTR variant. To identify the driver of cardiac disease, a Tc99m-PYP scan was performed and was negative for TTR cardiac amyloidosis. Therefore, the patient was given a diagnosis of AL amyloidosis with stage 3B cardiac involvement. She is currently receiving standard-of-care treatment on a clinical trial.
Conclusions
In patients with cardiac amyloidosis who present with both monoclonal gammopathies and a TTR variant, it is imperative to tissue type the amyloid and to employ diagnostic modalities such as Tc99m-PYP scans to deduce the correct diagnosis.
Moreover, in elderly patients who may have both monoclonal gammopathies and wild-type ATTR the same guidance applies.

**Author Listing - Lead/ Submitting Author (we will be communicating with this individual): Name, Institution, City and State where the work was done. Co-authors will be added in a separate section.**
Xia Wu, Division of Hematology-Oncology, Department of Medicine, Tufts Medical Center, Boston, MA

**Main Body of the Abstract**
**Background**
In cardiac amyloidosis, clinicians may infer that light-chain amyloidosis (AL) is the diagnosis given a monoclonal gammopathy, or mutated transthyretin (TTR) is the diagnosis given a mutated TTR gene. However, “Occam’s Razor” can be misleading. We present an instructive case of cardiac amyloidosis with both monoclonal proteins and TTR mutation
**Case report**
A 63-year-old black woman presented with progressive exertional dyspnea. Transthoracic echocardiogram demonstrated left ventricular wall thickening and ejection fraction of 45% with grade III diastolic dysfunction. NT-pro BNP was elevated to 1691 pg/mL and the troponin I to 0.36 ng/mL. Serum protein studies detected κ light chains, measured at 664 mg/L with a κ:λ ratio of 16.5. A clonal plasma cell population of 20-30% was detected in the bone marrow with positive Congo red staining.
Typing by liquid chromatography-coupled tandem mass spectrometry (LC/MS) confirmed AL, κ-type. On family history multiple members had died of heart disease. Given the patient’s race and family history we also performed TTR gene sequencing, detecting a heterozygous V122I TTR variant. To identify the driver of cardiac disease, a Tc99m-PYP scan was performed and was negative for TTR cardiac amyloidosis. Therefore, the patient was given a diagnosis of AL amyloidosis with stage 3B cardiac involvement. She is currently receiving standard-of-care treatment on a clinical trial.
**Conclusions**
In patients with cardiac amyloidosis who present with both monoclonal gammopathies and a TTR variant, it is imperative to tissue type the amyloid and to employ diagnostic modalities such as Tc99m-PYP scans to deduce the correct diagnosis.
Moreover, in elderly patients who may have both monoclonal gammopathies and wild-type ATTR the same guidance applies.

V122I TTR and AL κ-type in a Patient with Cardiac Involvement and Spinal Stenosis PA52 (#49)

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.