SCMR 22nd Annual Scientific Sessions
Description of Clinical Presentation:
64 years-old female with hypothyroidism, who had progressive shortness of breath and lower limbs edema was referred to our Institution for further study from a different outpatient facility. Her ECG showed sinus bradychardia, left atrial (LA) enlargement, first degree A-V block, left ventricular hypertrophy (LVH) and long corrected QT interval (597 msec). Her Chest-X-ray showed heart silhouette enlargement, pulmonary congestion and left pleural effusion. Her endogenous creatinine clearance was borderline and her attending physician gave consent of use gadolinium in agreement with the nephrologist, the rest of routine test were unremarkable. A transthoracic echocardiogram showed severe LVH with normal systolic function, diastolic dysfunction and biatrial enlargement. Based on findings a CMR was done, which was consistent with restrictive highly suggestive of cardiac AL type amyloidosis. A biopsy was done of her abdominal fat which was consistent with amyloidosis. Maximum medical treatment was established for heart failure and restrictive cardiomyopathy; however, she died 30 days later of the CMR diagnosis before initiate proper chemotherapy.
Diagnostic Techniques and Their Most Important Findings:
ECG showed sinus bradychardia, LA enlargement, first degree A-V block, LVH and long corrected QT interval (597 msec). Her Chest-X-ray showed heart silhouette enlargement, pulmonary congestion and left pleural effusion. Her creatinine in serum was 1.8 mg/dL, the rest of routine test were unremarkable. Transthoracic echocardiogram showed biatrial enlargement, LA index volume of 36mL/m2, severe concentric LVH, normal size ventricles, normal global and regional systolic function of both ventricles, LVEF 58%, diastolic dysfunction with pseudo normalized filling pattern, thickened leaflets of the mitral valve with normal opening, moderate mitral regurgitation, mild pericardial effusion and reduced global longitudinal strain (-10.31%). CMR showed asymmetric LVH, normal LV size, mildly reduced LVEF (50%), mild biatrial enlargement. Normal right ventricle. No optimal inversion time to proper nulling the myocardium, diffused subendocardial late gadolinium enhanced with no coronary distribution and biatrial enhancement. Native T1 was 1493 and extracellular volume was 67%. T2 mapping was normal. Pericardial and bilateral pleural effusion. A biopsy of abdominal fat stained with Congo red showed perivascular amyloid infiltrates.
Learning Points from this Case:
CMR is an accurate non-invasive imaging modality that allows different types of sequences for tissue characterization of the myocardium which in the case of amyloidosis can make the early diagnosis and help to establish proper treatment an prognosis; the use of mapping analysis increases the diagnostic accuracy and in cases where the risk of systemic nephrogenic fibrosis is high, the native T1 value constitutes an excellent alternative to conclude the proper diagnosis. CMR allows to differentiate ATTR for AL types amyloidosis, which have different treatment and prognosis.