Cardiac amyloidosis presenting as pulmonary arterial hypertension:A case report

BACKGROUND Pulmonary hypertension is a rare cardiopulmonary disease,with an insidious onset that usually worsens rapidly.Amyloid light chain(AL)amyloidosis is a rare systemic disease caused by extracellular deposition of pathologic,insoluble,and proteinaceous fibrils in organs and tissues;however,it is difficult to diagnose given its varied and nonspecific symptoms.To date,rare cases of amyloidosis with pulmonary hypertension have been reported.Of note,the optimal treatments for cardiac amyloidosis complicated with pulmonary hypertension remain unclear.CASE SUMMARY We report a case of a 51-year-old woman who presented with progressively worsening dyspnea.Transthoracic echocardiography indicated severe pulmonary hypertension.Twenty-seven months after first admission,the patient returned with symptoms of progressive heart failure.A myocardial tissue sample stained with Congo red was positive,and the patient was ultimately diagnosed with AL amyloidosis with cardiac involvement.CONCLUSION Although pulmonary hypertension may be idiopathic,it is frequently associated with other conditions.In rare cases,pulmonary hypertension can be a complication of AL amyloidosis,which should be seriously considered in any adult presenting with nonspecific signs or symptoms of cardiac distress.

Screening for Transthyretin Cardiac Amyloidosis in Patients with Bilateral Carpal Tunnel Syndrome: Identifying Missed Opportunities for Early Detection and Treatment

Purpose: Transthyretin cardiac amyloidosis (ATTR-CA) has been linked to many extra-cardiac manifestations including bilateral carpal tunnel syndrome (CTS). The aim of this study is to analyze patients with bilateral CTS to identify patients with high-risk features or “red flags” for ATTR-CA, identify if systematic screening was done for ATTR-CA and define opportunities for improved detection. Methods: Out of >5000 patients with bilateral CTS evaluated in a single tertiary care center in Southeast Michigan (2010-2016), we retrospectively studied a focused population of patients: men > 50 years and women > 60 years old with bilateral CTS and atrial fibrillation (n = 295). Baseline demographic, comorbidities, and electrocardiographic and echocardiographic findings were analyzed. A high-risk group suspicious for ATTR-CA was identified as patients with bilateral CTS, atrial fibrillation, and concomitant “red flags” including heart failure and left ventricular hypertrophy. Results: Out of 295 patients, 51.2% were female, 75.6% were White, and 22.4% were African American. Upon comparing the high-risk group (n = 67) with the remaining study population (n = 228), both diagnosis of ATTR-CA and mortality were higher among the high-risk group (7.5% vs 0.4% and 43.3% vs 24.6%, respectively, P = 0.003). Conclusions: A substantial number of bilateral CTS patients had additional “red flags” warranting formal evaluation for ATTR-CA;however, systematic evaluation for cardiac amyloidosis was not performed in many patients. This emphasizes that Multidisciplinary collaboration is needed to create a systematic workflow and to raise awareness amongst cardiologists and other physicians for suspecting ATTR-CA in bilateral CTS patients who have additional “red flags”.

Multi-modality imaging of cardiac amyloidosis: Contemporary update

Cardiac amyloidosis is a heterogeneous and challenging diagnostic disease with poor prognosis that is now being altered by introduction of new therapies.Echocardiography remains the first-line imaging tool, and when disease is suspected on echocardiography, cardiac magnetic resonance imaging and nuclear imaging play critical roles in the non-invasive diagnosis and evaluation of cardiac amyloidosis. Advances in multi-modality cardiac imaging allowing earlier diagnosis and initiation of novel therapies have significantly improved the outcomes in these patients. Cardiac imaging also plays important roles in the risk stratification of patients presenting with cardiac amyloidosis. In the current review, we provide a clinical and imaging focused update, and importantly outline the imaging protocols, diagnostic and prognostic utility of multimodality cardiac imaging in the assessment of cardiac amyloidosis.

Cardiac Amyloidosis: A Case Report of Seven Patients

Introduction: Cardiac amyloidosis is a rare and under-diagnosed disease. The objective of this study was to collect cases of cardiac amyloidosis in patients hospitalized in the cardiology department of the Centre Hospitalier Intercommunal Alençon-Mamers (CHICAM). Patients and Methods: This was a retrospective descriptive study of the records of patients diagnosed with cardiac amyloidosis. The study took place in the cardiology department of the CHICAM over 12 months (from January 1, 2020 to December 31, 2020). We included the files of patients in whom the diagnosis of cardiac amyloidosis was confirmed on the basis of clinical, echocardiographic, biological, scintigraphic and cardiac MRI evidence. Results: Seven patients were included. The mean age was 86.71 years. Six men for one woman. Most of the patients were in heart failure. There was one case of periorbital ecchymosis. Troponinemia was increased in three patients, NTproBNP was always high with a mean of 1000 ng/L. Cardiac echography showed a hyperbright septum in four cases, concentric hypertrophy of the left ventricle with a mean interventricular septum in diastole of 13.85 mm. Six cases were senile transthyretin amyloidosis (TTR), one case was mutated transthyretin amyloidosis (TTRm). Two cases of death were noted. Conclusion: Cardiac amyloidosis has a poor prognosis due to delayed diagnosis.

Diagnostic and prognostic value of cardiac imaging in amyloidosis

Amyloidosis is an infiltrative disease caused by extracellular protein deposition that has accumulated a lot of scientific production in recent years.Different types of amyloidosis can affect the heart.Transthyretin amyloidosis and light chain amyloidosis are the two most common types of cardiac amyloidosis.These entities have a poor prognosis,so accurate diagnostic techniques are imperative for determining an early therapeutic approach.Recent advances in cardiac imaging and diagnostic strategies show that these tools are safe and can avoid the use of invasive diagnostic techniques to histological confirmation,such as endomyocardial biopsy.We performed a review on the diagnostic and prognostic implications of different cardiac imaging techniques in cardiac amyloidosis.We mainly focus on reviewing echocardiography,cardiac magnetic resonance,computed tomography and nuclear imaging techniques and the different safety measurements that can be done with each of them.

Native T_1 mapping for the diagnosis of cardiac amyloidosis: a pilot research

Objective To explore the potential role of native cardiac T1 mapping by cardiac magnetic resonance for detection of cardiac amyloidosis（CA）.Methods Twenty patients with cardiac amyloidosis（with definite cardiac involvement based on standard biomarkers and echo cardiographic criteria）were studied at our hospital

Familial amyloid cardiomyopathy masquerading as chronic Guillain-Barre syndrome： things are not always what they seem

Familial amyloid cardiomyopathy is a challenging condition that mimics many other diseases, particularly in patients with pronounced neurological presentations and unexplained or equivocal cardiac abnormalities. In this case, a 57-year-old man was admitted for outpatient cardiological evaluation of progressive right heart failure and limb paraesthesias. The patient presented with hypertension, chronic Guillain-Barre syndrome, and sick sinus syndrome. Transthoracic echocardiograms showed a thickened ventricular wall and enlarged atrium. Tissue Doppler showed a restrictive filling pattern. Transthyretin （TTR）-associated amyloidosis, which was revealed by abdominal fat-pad biopsy and DNA analysis, explained the concurrence of independent pathological features, including neuropathy and cardiac involvement. Genetic testing identified a G 〉 T mutation in exon 4 of the transthyretin （TTR） gene. This mutation resulted in the alanine-to-serine substitution at amino acid position 117. Moreover, genetic testing confirmed that the patient＇s asymptomatic son carried the same amyloidogenic TTR mutation. Given these findings, the diagnosis of familial amyloid cardiomyopathy, which was misdiagnosed as chronic Guillain-Barre syndrome, was proposed.