Carito L. Zumaeta-Cabrera, Unidad de Imagen Cardiaca Avanzada, Hospital Clínico San Carlos, Madrid, España
Guadalupe K. Adauto-Quispe, Unidad de Imagen Cardiaca Avanzada, Hospital Clínico San Carlos, Madrid, España
Rodrigo A. León-Vivar, Unidad de Imagen Cardiaca Avanzada, Hospital Clínico San Carlos, Madrid, España
José A. De Agustín-Loeches, Unidad de Imagen Cardiaca Avanzada, Hospital Clínico San Carlos, Madrid, España
María Rivadeneira-Ruiz, Unidad de Imagen Cardiaca Avanzada, Hospital Clínico San Carlos, Madrid, España
Transthyretin amyloidosis (ATTR) is an infiltrative cardiomyopathy with poor prognosis, where early diagnosis is crucial. We present a 71-year-old man with progressive biventricular heart failure in whom multimodality imaging was decisive. Echocardiography revealed an â??apical sparingâ? pattern, cardiac magnetic resonance imaging showed diffuse late gadolinium enhancement and markedly elevated extracellular volume, and 99mTc-PYP scintigraphy demonstrated grade 3 myocardial uptake, confirming ATTR. Genetic testing identified a homozygous c.424G>A p.(Val142Ile) mutation in the TTR gene, establishing hereditary ATTR and enabling family screening strategies. This case highlights how integrating advanced imaging with genetic testing enhances diagnostic accuracy, prognostic assessment, and therapeutic decision-making.
Keywords: Hereditary amyloidosis. Transthyretin. Diagnostic imaging. Cardiovascular diseases. Magnetic resonance imaging.