Abstract/Description
Background: Hereditary transthyretin amyloidosis (ATTRv) is a progressive, multisystem disorder caused by pathogenic TTR mutations affecting the heart and peripheral nerves. While disease-modifying agents such as tafamidis are available, liver transplantation (LTx) remains an option in selected genotypes, with over 50% of Val30Met carriers surviving up to 20 years post-transplant.
Case: A 53-year-old male with a permanent pacemaker for complete atrioventricular block presented with NYHA class II dyspnea, syncope, and lower extremity paresthesias. ECG showed atrial fibrillation. Transthoracic echocardiography revealed preserved ejection fraction, biventricular wall thickening with granular appearance, moderate left atrial dilation, and moderate mitral regurgitation. Speckle-tracking echocardiography demonstrated relative apical sparing of longitudinal strain. Cardiac MRI showed diffuse subendocardial late gadolinium enhancement. Serum and urine electrophoresis and free light chain assays excluded monoclonal gammopathy. Technetium-99m pyrophosphate scan showed grade 3 myocardial uptake. Genetic testing identified a heterozygous Val30Met (p.Val50Met) pathogenic variant in the TTR gene, confirming ATTRv.
The patient was started on tafamidis and continued anticoagulation. Within six months, dyspnea progressed from NYHA II to III despite medical management. After multidisciplinary discussion considering rapid progression, multisystem involvement, and a favorable genotype, LTx was successfully performed. At six years of follow-up, the patient remains alive with preserved graft function, stable neurologic status, and NYHA III symptoms.
Conclusion: This case illustrates that LTx remains a valid disease-modifying option in selected Val30Met ATTRv patients, particularly those with rapid clinical deterioration despite pharmacologic therapy. Early genetic diagnosis and timely referral to transplant centers are essential to maximizing survival and functional stability.
Faculty Advisor/Mentor
Johanna Contreras, MD, MSc, FACC, FAHA, FASE, FHFSA
Faculty Advisor/Mentor Email
johanna.contreras@mountsinai.org
Faculty Advisor/Mentor Department
Department of Cardiology, Mount Sinai Hospital, New York, NY, USA.
College/School/Affiliation
Eastern Virginia Medical School (EVMS)
Included in
Six-Year Survival Following Liver Transplant in Val30Met Hereditary Transthyretin Amyloidosis
Background: Hereditary transthyretin amyloidosis (ATTRv) is a progressive, multisystem disorder caused by pathogenic TTR mutations affecting the heart and peripheral nerves. While disease-modifying agents such as tafamidis are available, liver transplantation (LTx) remains an option in selected genotypes, with over 50% of Val30Met carriers surviving up to 20 years post-transplant.
Case: A 53-year-old male with a permanent pacemaker for complete atrioventricular block presented with NYHA class II dyspnea, syncope, and lower extremity paresthesias. ECG showed atrial fibrillation. Transthoracic echocardiography revealed preserved ejection fraction, biventricular wall thickening with granular appearance, moderate left atrial dilation, and moderate mitral regurgitation. Speckle-tracking echocardiography demonstrated relative apical sparing of longitudinal strain. Cardiac MRI showed diffuse subendocardial late gadolinium enhancement. Serum and urine electrophoresis and free light chain assays excluded monoclonal gammopathy. Technetium-99m pyrophosphate scan showed grade 3 myocardial uptake. Genetic testing identified a heterozygous Val30Met (p.Val50Met) pathogenic variant in the TTR gene, confirming ATTRv.
The patient was started on tafamidis and continued anticoagulation. Within six months, dyspnea progressed from NYHA II to III despite medical management. After multidisciplinary discussion considering rapid progression, multisystem involvement, and a favorable genotype, LTx was successfully performed. At six years of follow-up, the patient remains alive with preserved graft function, stable neurologic status, and NYHA III symptoms.
Conclusion: This case illustrates that LTx remains a valid disease-modifying option in selected Val30Met ATTRv patients, particularly those with rapid clinical deterioration despite pharmacologic therapy. Early genetic diagnosis and timely referral to transplant centers are essential to maximizing survival and functional stability.