Noninvasive Diagnostic Modalities in an Isolated Case of Cardiac Amyloidosis

Abstract

Amyloidoses are a family of inherited or acquired disorders characterized by the deposition of insoluble extracellular protein fibrils in various organs and tissues, thereby impairing their function. Amyloidoses are typically misfolded proteins, and on rare occasions, can deposit in the myocardium resulting in an infiltrative/restrictive cardiomyopathy. Restrictive cardiomyopathy is an underdiagnosed cause of congestive heart failure (CHF) with preserved ejection fraction, atrial and ventricular arrhythmias along with conduction defects. In elderly patients, as with this study, cardiac amyloidosis most often results from abnormalities in the liver protein transthyretin (TTR), a thyroxine and retinol-retinol binding complex transporter in blood. Mutated serum TTR results in familial systemic amyloidosis, whereas wild-type TTR results in senile cardiac amyloidosis predominantly seen in elderly males. Scintigraphy, a common non-invasive method used to facilitate early diagnosis of cardiac amyloidosis was the method used in this study. However, the gold standard for definitive diagnosis of cardiac amyloidosis is endomyocardial biopsy (EMB). Besides organ transplant, which is rarely done, therapy for cardiac amyloidosis is mainly aimed at symptomatic and supportive care. Plenty of evidence has shown that the left ventricular ejection fraction (LVEF) in patients with restrictive cardiomyopathy is usually preserved. However, in this study, we review the unique case of an 82-year-old male who was diagnosed with isolated cardiac amyloidosis with severe systolic dysfunction (decreasedLVEF), the methods used to establish the diagnosis, as well as the therapeutic interventions.

Unraveling the Complexity: From Molecular Subtypes to Therapeutic Strategies in Heart Failure with Preserved Ejection Fraction and Atrial Fibrillation

“…ICA refers to the deposition of amyloid in the atrium without valvular heart disease. In patients with AF, those with ICA are more likely to have persistent forms of AF and lower sinus rhythm P-wave amplitude [95]. Senile cardiac amyloidosis, predominantly visible in elderly males, is regularly as a In AD, mass-spectrometry proteinomics in cerebrospinal fluid (CSF) showed five molecular subtypes on the basis of their differing genetic profiles, brain atrophy, and clinical outcomes result of wild-kind transthyretin (TTR) and is associated with coronary heart failure with preserved ejection fraction (HFpEF) and AF [96,97].…”

Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling

“…Congenital diseases may eventually manifest during adulthood in response to specific stresses, remaining undiscovered until a dramatic or fatal episode occurs, even in agonistic athletes routinely submitted to ECG to practice [102][103][104][105][106][107][108][109][110][111]. Acquired rhythm pathologies might be induced by several causes, among which drug cardiotoxicity, cardiomyopathies, myocarditis or systemic infections, valve diseases, and interventional/surgical maldeployment of cardiac valve replacements [112][113][114][115][116][117][118][119][120][121][122][123][124][125][126][127][128].…”

Multimodality Imaging for Diagnosing Transthyretin Cardiac Amyloidosis

“…Amyloidosis is caused by the building up of proteins called amyloid in different organs. Endomyocardial biopsy is the definitive diagnostic modality of cardiac amyloidosis (CA) [1]. However, the noninvasive techniques improve patient acceptance of work-up to diagnose CA.…”