Inflammation clashing onto myocardial susceptibility: a tale of two rare diseases – a case report

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Abstract Background Sarcoidosis is a rare inflammatory disease characterized by the presence of myocardial noncaseating granulomas. Heart failure, conduction abnormalities and/or life-threatening arrhythmias are the main manifestations of cardiac sarcoidosis (CS). Cardiac magnetic resonance (CMR) plays a major role in the diagnostic suspicion of cardiac involvement in sarcoidosis. However, late gadolinium enhancement (LGE) patterns are non-specific, and one should consider alternative or additional aetiologies for myocardial disease. Case Summary We report the case of a 40-year-old male with a past medical history remarkable for pulmonary and cutaneous sarcoidosis, presenting with asymptomatic premature ventricular contractions and severe left ventricle (LV) dilation and moderately reduced systolic function. CT-angiography excluded coronary artery disease. CMR revealed myocardial oedema in the anterior, anterolateral and inferolateral walls and the presence of septal intra-mural and anterior, inferior and lateral sub-epicardial “ring-like” LGE. He had elevated inflammatory plasma biomarkers. NT-proBNP was 110pg/mL and high sensitivity-troponin T was 20ng/dL. Positron emission tomography computed tomography scan showed increased myocardial uptake consistent with inflammatory disease. Endomyocardial biopsy was normal. Thus, a presumptive diagnosis of isolated CS was made, and immunosuppression therapy was initiated, with full LV function recovery. Given the “ring-like” LGE pattern we recommended genetic testing, which identified a deletion in the dystrophin gene, classified as likely pathogenic. Discussion This case highlights the contemporary diagnostic pathway for primary cardiomyopathies, emphasizing the increased likelihood of genetically-influenced myocardial vulnerability to continuous harm when coupled with an acquired precipitant of myocardial damage. We describe a case of CS likely superimposed on a genetic myocardial substrate.