Concurrent Use of Tafamidis and Mavacamten for Transthyretin Cardiac Amyloidosis With Severe Outflow Tract Obstruction.

Background: Cardiac amyloidosis (CA) and hypertrophic cardiomyopathy often manifest with overlapping clinical features, making diagnosis and management challenging.

Case Summary: We describe a 79-year-old man presenting with exertional dyspnea and presyncope who was diagnosed with transthyretin CA with left ventricular outflow tract (LVOT) obstruction and was treated with concurrent mavacamten and tafamidis.

Discussion: There is substantial overlap in the clinical phenotypes of hypertrophic cardiomyopathy and CA, and the presence of hemodynamically significant LVOT does not exclude the possibility of CA as an underlying diagnosis.

Management of Cardiac Amyloidosis With Concomitant Left Ventricular Outflow Tract Obstruction.

Cardiac amyloidosis (CA) is a highly morbid cause of heart failure with a poor untreated prognosis. The presence of left ventricular outflow tract (LVOT) obstruction may lead to misclassification of CA as hypertrophic obstructive cardiomyopathy (HOCM). Between 2022 and 2024, 7 patients-4 with light- chain cardiac amyloidosis (AL-CM) and 3 with transthyretin cardiac amyloidosis-initially presented with HOCM at our center (The Johns Hopkins Hospital, Baltimore, Maryland, USA).

Cardiac Amyloidosis: A Comprehensive Review of Imaging Findings.

Cardiac amyloidosis is an infiltrative cardiomyopathy caused by the deposition of insoluble amyloid fibrils in the myocardium, leading to abnormal cardiac function and heart failure. Diagnosis is often challenging due to its diverse symptoms and related comorbidities. Although endomyocardial biopsy is the gold standard for diagnosis, a complete diagnostic approach often includes non-invasive methods such as Cardiac Magnetic Resonance (CMR) and nuclear medicine techniques.

Race and Socioeconomic Status Impact Diagnosis and Clinical Outcomes in Transthyretin Cardiac Amyloidosis.

Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) is associated with significant mortality. The Val122Ile variant, highly prevalent in Black patients, portends poorer survival compared with other ATTR-CM subtypes. Although Val122Ile is biologically more aggressive, the contribution of race and socioeconomic status (SES) to disease outcomes in patients with ATTR-CM is undefined.

Coexistence of Light Chain and Transthyretin Cardiac Amyloidosis.

Although most patients with cardiac amyloidosis are diagnosed with either light chain (AL) or transthyretin (ATTR) disease, coexisting amyloid subtypes can occur. We present three cases of coexisting AL and ATTR cardiac amyloidosis and demonstrate the importance of clinical history and endomyocardial biopsy in diagnosis of this rare entity.

Advances in the diagnosis and treatment of transthyretin amyloid cardiomyopathy.

Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underrecognized cause of heart failure (HF). ATTR-CM can lead to a number of cardiovascular manifestations including HF, rhythm disturbances, and valvular disease that ultimately limit quality of life and prognosis. Due to advances in diagnostic modalities and therapeutic options, the prevalence of ATTR-CM is rising.

Phenotypes Associated With the Val122Ile, Leu58His, and Late-Onset Val30Met Variants in Patients With Hereditary Transthyretin Amyloidosis.

Background And Objectives: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant systemic disease with variable penetrance and heterogeneous clinical presentation. Several effective treatments can reduce mortality and disability, though diagnosis remains challenging, especially in the United States where disease is nonendemic. Our aim is to describe the neurologic and cardiac characteristics of common US ATTR variants V122I, L58H, and late-onset V30M at presentation.

Atrial fibrillation is an independent risk factor for heart failure hospitalization in heart failure with preserved ejection fraction.

Aims: Atrial fibrillation (AF) is a common comorbid condition in heart failure with preserved ejection fraction (HFpEF). The effect of AF on heart failure (HF) exacerbation in HFpEF has not been well described. This study investigated how AF modifies the clinical trajectory of HFpEF patients after hospitalization for decompensated HF.

Multimodality Imaging in the Evaluation and Prognostication of Cardiac Amyloidosis.

Cardiac amyloidosis (CA) is an infiltrative cardiomyopathy resulting from deposition of misfolded immunoglobulin light chains (AL-CA) or transthyretin (ATTR-CA) proteins in the myocardium. Survival varies between the different subtypes of amyloidosis and degree of cardiac involvement, but accurate diagnosis is essential to ensure initiation of therapeutic interventions that may slow or potentially prevent morbidity and mortality in these patients. As there are now effective treatment options for CA, identifying underlying disease pathogenesis is crucial and can be guided by multimodality imaging techniques such as echocardiography, magnetic resonance imaging, and nuclear scanning modalities.

Large Pleural Effusion: A Pitfall in the Quantitation of 99m Tc-PYP Imaging for ATTR Cardiac Amyloidosis.

Transthyretin cardiac amyloidosis (ATTR and ATTRv) is an underrecognized cause of heart failure that results from myocardial deposition of misfolded protein (TTR or prealbumin). The diagnosis can be confirmed by uptake of 99m Tc-pyrophosphate ( 99m Tc-PYP) in the heart with serologic studies to rule out light chain disease. We present the case of a 70-year-old woman who underwent a 99m Tc-PYP scan.

A Stepwise Guide to the Diagnosis and Treatment of Heart Failure With Preserved Ejection Fraction.

Heart failure with preserved ejection fraction (HFpEF) is a growing epidemic owing to an increasingly obese and aging patient population. Making the diagnosis of HFpEF is often challenging because patients frequently have multiple comorbidities and alternative reasons for dyspnea and exercise intolerance, symptoms that are hallmark to the disease. Additionally, a universal diagnostic algorithm and definition of HFpEF is lacking.

Under-Enrollment of Obese Heart Failure with Preserved Ejection Fraction Patients in Major HFpEF Clinical Trials.

Background: Therapy for heart failure with preserved ejection fraction (HFpEF) remains an unmet need with lack of a consensus definition of HFpEF for inclusion into clinical trials. We evaluated whether hemodynamically characterized patients from a HFpEF referral center met inclusion criteria for 4 major HFpEF trials.

Methods And Results: Patients were assessed for theoretical inclusion into 4 major clinical trials (I-PRESERVE, RELAX, TOPCAT, and PARAGON-HF).

Anomalous Origin of the Right Coronary Artery Causing Myocardial Ischemia: A Case for a Multimodality Imaging Approach.

A 46-year-old man was admitted with non-ST elevation myocardial infarction and newly diagnosed acutely decompensated heart failure. Echocardiogram demonstrated left ventricular ejection fraction of 30% with basal inferior and inferolateral akinesis. Coronary angiography showed mild diffuse coronary artery disease and an anomalous right coronary artery arising from the left coronary cusp.

Management of heart failure in cardiac amyloidosis using an ambulatory diuresis clinic.

Background: Recurrent congestion in cardiac amyloidosis (CA) remains a management challenge, often requiring high dose diuretics and frequent hospitalizations. Innovative outpatient strategies are needed to effectively manage heart failure (HF) in patients with CA. Ambulatory diuresis has not been well studied in restrictive cardiomyopathy.

Myocardial Gene Expression Signatures in Human Heart Failure With Preserved Ejection Fraction.

Background: Heart failure (HF) with preserved ejection fraction (HFpEF) constitutes half of all HF but lacks effective therapy. Understanding of its myocardial biology remains limited because of a paucity of heart tissue molecular analysis.

Methods: We performed RNA sequencing on right ventricular septal endomyocardial biopsies prospectively obtained from patients meeting consensus criteria for HFpEF (n=41) contrasted with right ventricular septal tissue from patients with HF with reduced ejection fraction (HFrEF, n=30) and donor controls (n=24).

Highest Obesity Category Associated With Largest Decrease in N-Terminal Pro-B-Type Natriuretic Peptide in Patients Hospitalized With Heart Failure With Preserved Ejection Fraction.

Background Heart failure with preserved ejection fraction (HFpEF) constitutes half of hospitalized heart failure cases and is commonly associated with obesity. The role of natriuretic peptide levels in hospitalized obese patients with HFpEF, however, is not well defined. We sought to evaluate change in NT-proBNP (N-terminal pro-B-type natriuretic peptide) levels by obesity category and related clinical outcomes in patients with HFpEF hospitalized for acute heart failure.

Endomyocardial Biopsy Characterization of Heart Failure With Preserved Ejection Fraction and Prevalence of Cardiac Amyloidosis.

Objectives: This study prospectively evaluated endomyocardial biopsies in patients with heart failure with preserved ejection fraction (HFpEF) to identify histopathologic phenotypes and their association with clinical characteristics.

Background: Myocardial tissue analysis from a prospectively defined HFpEF cohort reflecting contemporary comorbidities is lacking.

Methods: Patients with HFpEF (EF ≥50%) referred to the Johns Hopkins HFpEF Clinic between August 2014 and September 2018 were enrolled for right heart catheterization and endomyocardial biopsy.