Transthyretin Amyloid Cardiomyopathy (ATTR-CM): Understanding and Managing a Potentially Fatal Heart Disease (2023)

Introduction In this comprehensive article, we delve into the world of Transthyretin Amyloid Cardiomyopathy (ATTR-CM), a severe and underdiagnosed disease of the heart muscle. ATTR-CM occurs when the protein called transthyretin, which normally circulates in the bloodstream, becomes misshapen and accumulates in the heart, nerves, and other organs. This build-up of amyloid deposits can lead to heart failure and potentially fatal complications. Join us as we explore the different types, risk factors, symptoms, diagnosis, and available treatments for ATTR-CM.

Hereditary ATTR-CM The first type of ATTR-CM we explore is hereditary ATTR-CM (hATTR-CM), which often runs in families. It is characterized by a variant in the transthyretin gene, resulting in the deposition of amyloid in the heart, nerves, kidneys, and other organs. Symptoms can manifest as early as age 20 or as late as age 80. Certain variants of hATTR-CM are more prevalent in specific regions, such as Portugal, Sweden, and Japan, while others are more common among individuals of Irish or African descent. Genetic testing can provide valuable information for developing a treatment plan.

Wild-type ATTR-CM The second type we discuss is wild-type ATTR-CM (wATTR-CM), which does not have a variant in the transthyretin gene. This form of ATTR-CM typically affects individuals aged 65 and older and primarily targets the heart. However, it can also cause peripheral neuropathy, characterized by pain, numbness, and carpal tunnel syndrome. The symptoms of wATTR-CM may be mild and often go undiagnosed until later stages.

Understanding the Risk Factors For hereditary ATTR-CM, risk factors include having a family member with ATTR-CM or heart failure, being 50 years or older (although symptoms can occur between ages 20 and 80), being male, and being of African American descent. On the other hand, risk factors for wild-type ATTR-CM include being 65 years or older and being male.

Identifying the Symptoms The symptoms of ATTR-CM can vary and are often mistaken for other conditions. In the early stages, symptoms may mimic those of heart failure related to high blood pressure or hypertrophic cardiomyopathy. Shortness of breath, especially upon exertion or when lying down, is the most common symptom. Other symptoms may include coughing or wheezing, swelling in the feet, ankles, and legs, bloating in the abdomen, confusion or trouble thinking, increased heart rate, and palpitations or abnormal heart rhythms. Additional symptoms specific to ATTR-CM may include numbness or tingling in the hands and feet (hATTR-CM) or carpal tunnel syndrome (wATTR-CM).

Diagnosing ATTR-CM When ATTR-CM is suspected, specialized tests are required to confirm the diagnosis. Initial cardiac tests, such as an electrocardiogram (ECG) or echocardiogram, may indicate the presence of ATTR-CM. However, more advanced imaging studies, including a cardiac MRI and/or nuclear medicine scan, are necessary to provide a definitive diagnosis. In some cases, a tissue biopsy of an affected organ or genetic testing may also be required.

Treating ATTR-CM Exciting developments in the field of ATTR-CM have brought forth several promising new therapies. The primary focus of treatment is to alleviate heart failure symptoms and slow or halt the progression of amyloid deposits. Medications have been approved for hereditary transthyretin amyloidosis affecting the nerves, which can cause neuropathy. In cases of advanced heart failure, heart transplantation may be considered. Since the abnormal transthyretin protein is produced by the liver, some patients may require both heart and liver transplantation.

Seeking Support and Raising Awareness Awareness of ATTR-CM among healthcare professionals is low, often resulting in misdiagnosis. If you are living with heart failure and experience unresolved or seemingly unrelated symptoms, it is crucial to discuss them with your healthcare professional. Initiating this conversation could potentially save your life. Genetic testing can provide vital information to help your healthcare professional develop an effective treatment plan. Additionally, seeking support from others who have been impacted by ATTR-CM can be beneficial. The American Heart Association's Support Network offers a platform for connecting with others and sharing experiences.

Conclusion In conclusion, Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is a serious and potentially fatal heart disease that requires careful attention. By understanding its different forms, risk factors, symptoms, diagnostic procedures, and available treatments, individuals can take proactive steps towards managing this condition. Remember, early detection and timely intervention are essential in combating ATTR-CM and improving long-term outcomes. Stay informed, seek support, and work closely with your healthcare professionals for the best possible care.

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