Quick Fire Cases
Mattia Alberti, MD
Cardiology Resident, PhD Candidate
University of Pisa, Italy
Mattia Alberti, MD
Cardiology Resident, PhD Candidate
University of Pisa, Italy
Filippo Biondi, MD
Medical Doctor
University of Pisa, Italy
Chrysanthos Grigoratos, MD, PhD
Cardiologist
Fondazione G. Monasterio CNR-Regione Toscana, Italy
Giancarlo Todiere, MD
Cardiologist
Fondazione Toscana Gabriele Monasterio, Italy
Raffaele De Caterina, MD, PhD
Cardiologist
University of Pisa, Italy
Giovanni Donato Aquaro, MD
Doctor
Academic Radiology, Department of Surgical, Medical and Molecular pathology and of critical area, University of Pisa, Italy, Italy
We present the case of a 44-year-old male who underwent CMR imaging to rule out arrhythmogenic cardiomyopathy due to a family history. A thoracic computed tomography (CT) scan was performed to exclude extracardiac involvement. It revealed bilateral pulmonary perilymphatic non-calcific micronodules and multiple mediastinal lymphadenopathies. Extensive coronary calcifications were also noted. An 18F-FDG-PET scan confirmed these findings, revealing intense hypermetabolism of the mediastinal lymphadenopathies and mild inhomogeneous hypermetabolism of the pulmonary micronodules. No significant left ventricular metabolism was noted. As a collateral finding, spotty hypermetabolism was observed in the ascending colon, suggestive of neoplasia.
Findings were compatible with cardiac sarcoidosis. However, the subsequent identification of severe three-vessel coronary artery disease and colon cancer provided alternative explanations for the observed late gadolinium enhancement and lymphadenopathy, respectively, complicating the diagnostic process.
Diagnostic Techniques and Their Most Important Findings: Initial low-resolution localizer images revealed mediastinal lymphadenopathies. Cine imaging showed mild left ventricular dilation and global systolic function at the lower limits of normal, with regional hypokinesia of the lateral mid-basal wall. This appeared thinned and with fatty metaplasia (india-ink artifact). Post-contrast T1-weighted imaging displayed extensive myocardial late gadolinium enhancement (LGE) with a mixed ischemic and non-ischemic pattern: diffuse sub-endocardial and mid-wall, extending into the right ventricle (hook sign).
Suspecting sarcoidosis, and unable to perform edema sequences (STIR, T2 mapping) after contrast administration, we admitted the patient to our Cardiology unit to further investigate the cardiac involvement and the associated risk of arrhythmias.
A TTE confirmed mild left ventricular dilation, mildly reduced global systolic function (LVEF 50%), and lateral wall hypokinesia, with normal diastolic function.
A subsequent colonoscopy identified a polypoid lesion in the ascending colon, which was removed and confirmed to be high-grade dysplasia on histology.
Due to extensive coronary calcifications, a coronary angiogram was performed, showing sub-occlusive coronary artery disease of the left anterior descending artery (LAD) and first diagonal (D1) branch, as well as significant lesions of the left circumflex artery and obtuse marginal branch (OM). The right coronary artery was hypoplastic with a proximal chronic total occlusion
A follow-up CMR performed one month later showed stable biventricular volumes and function, absence of edema, and substantially stable fibrosis.
Learning Points from this Case: This case report illustrates the risk of oversimplifying complex clinical scenarios by attributing signs and symptoms to a single disease, particularly in young, otherwise apparently healthy individuals. In such cases, clinicians must include rare diseases in their differential diagnosis.
Treatment of such cases is not easier than diagnosis. While PET is a powerful diagnostic tool, CMR imaging uniquely offers essential prognostic capabilities and drives a therapeutic approach: it’s the extensive fibrosis detected by LGE imaging that drives the arrhythmic risk, prompting consideration for an ICD.
