From the Guidelines
Cardiac amyloidosis can be hereditary, particularly in cases of transthyretin (TTR) amyloidosis, which is caused by mutations in the TTR gene, and early diagnosis is crucial for effective management, so individuals with family history should consider screening even before symptoms develop. This form of amyloidosis is passed down in families in an autosomal dominant pattern, meaning a person needs only one copy of the mutated gene to develop the condition 1. Hereditary TTR amyloidosis often affects the heart, causing cardiomyopathy, as well as the nervous system. Other types of amyloidosis that can affect the heart, such as light chain (AL) amyloidosis, are not typically hereditary but are associated with bone marrow disorders.
Some key points to consider in the diagnosis and management of cardiac amyloidosis include:
- Genetic testing is recommended to identify potential mutations in individuals with a family history of cardiac amyloidosis 1
- Treatment depends on the specific type of amyloidosis, but may include medications like tafamidis (Vyndaqel, Vyndamax) for TTR amyloidosis, which stabilizes the transthyretin protein and slows disease progression 1
- Other treatments might include heart failure medications, organ transplantation, or therapies targeting the underlying cause
- Early diagnosis is crucial for effective management, and individuals with family history should consider screening even before symptoms develop 1
In terms of specific treatment options, tafamidis (Vyndaqel, Vyndamax) is a recommended medication for TTR amyloidosis, which stabilizes the transthyretin protein and slows disease progression 1. Additionally, the 2022 AHA/ACC/HFSA guideline for the management of heart failure recommends a diagnostic and treatment algorithm for cardiac amyloidosis, which includes checking for monoclonal light chains and considering hematology-oncology consultation and heart or other biopsy 1.
It's also important to note that some treatments, such as high-dose melphalan followed by autologous stem cell transplantation (HDM/SCT), may be associated with significant cardiotoxicity and should be used with caution in patients with cardiac involvement 1. Overall, the management of cardiac amyloidosis requires a comprehensive and multidisciplinary approach, taking into account the specific type of amyloidosis, the extent of cardiac involvement, and the individual patient's needs and preferences.
From the FDA Drug Label
VYNDAQEL and VYNDAMAX are indicated for the treatment of the cardiomyopathy of wild-type or hereditary transthyretin-mediated amyloidosis (ATTR-CM) in adults to reduce cardiovascular mortality and cardiovascular-related hospitalization. The answer to the question about cardiac amyloidosis hereditary is that tafamidis is indicated for the treatment of hereditary transthyretin-mediated amyloidosis (ATTR-CM) in adults 2.
- Key points:
- Tafamidis is used to treat cardiomyopathy of hereditary transthyretin-mediated amyloidosis.
- The treatment aims to reduce cardiovascular mortality and cardiovascular-related hospitalization.
- Hereditary transthyretin-mediated amyloidosis is a specific type of amyloidosis that affects the heart.
From the Research
Cardiac Amyloidosis Overview
- Cardiac amyloidosis is a condition caused by the deposition of abnormal proteins (amyloid) in the cardiac tissue 3, 4, 5, 6, 7
- It can be hereditary or acquired, with transthyretin (ATTR) and immunoglobulin light chain (AL) amyloidosis being the most common forms 5, 7
Hereditary Cardiac Amyloidosis
- Hereditary amyloidosis is most commonly caused by rare genetic variants in the transthyretin (TTR) gene 6, 7
- TTR-related amyloidosis can be diagnosed noninvasively using bone scintigraphy imaging in selected cases 4
- Early recognition and treatment of hereditary cardiac amyloidosis are crucial to prevent irreversible damage and improve prognosis 3, 4, 5
Diagnosis and Treatment
- Diagnosis of cardiac amyloidosis requires a combination of noninvasive and invasive tests, including imaging techniques and biopsy 3, 4, 6
- Treatment options vary depending on the type of amyloidosis and the extent of cardiac involvement 4, 5, 6, 7
- Novel therapies, such as tafamidis and acoramidis, have been approved for the treatment of ATTR-CA, while chemotherapy and organ transplantation are also used to manage AL-CA and other forms of cardiac amyloidosis 4, 5, 6, 7