Challenging differential diagnosis, Unusual setting of medical care, Rare disease
Siniša Roginić, Ozren Vinter, Matias Trbušić, Martina Roginić, Edina Ćatić Ćuti
Department of Cardiology, General Hospital Zabok, Zabok, Croatia
Am J Case Rep 2020; 21:e926290
Available online: 2020-09-29
Amyloidosis is a multisystem disease caused by deposition of dysfunctional protein-amyloid-in various organs. The heart is commonly involved, especially in primary (AL) and transthyretin (ATTR) amyloidosis. Most patients present with restrictive cardiomyopathy along with other systemic features of amyloid deposition. Diagnosing amyloidosis is cumbersome and based on the patient’s clinical condition and findings from electrocardiography, routine laboratory tests, cardiac biomarkers, imaging, and biopsy. Echocardiography (echo) is a widely available diagnostic imaging method that can help raise suspicion of cardiac amyloidosis (CA) if novel parameters of systolic dysfunction are used, which are based on strain measurement complemented with traditional morphologic and hemodynamic traits. A definitive diagnosis of amyloidosis requires biopsy. It is important to differentiate between AL and ATTR amyloidosis because the treatment approaches for them differ. The prognosis for CA is still dismal but can be improved with early diagnosis and institution of treatment.
CASE REPORT: Our patients presented with advanced heart failure and subtle clinical signs of amyloidosis. AL amyloidosis was diagnosed based on echo findings and confirmed with bone marrow biopsy. In this report, we describe classic nonspecific echo signs followed by novel parameters of systolic dysfunction.
CONCLUSIONS: Because the symptoms and signs of amyloidosis are nonspecific, the diagnosis requires a high level of clinical suspicion. Severe diastolic heart failure should prompt a further search for subtle signs on echo that indicate possible amyloid deposition disease. Use of systolic strain analysis increases the specificity of echo for diagnosis of amyloidosis. Echo results combined with specific clinical symptoms and results of a hematology workup can be used to diagnose CA when other, less common tests are not available or invasive testing is not desirable.
Keywords: Amyloidosis, Cardiomyopathy, Restrictive, Echocardiography