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Inflammation clashing onto myocardial susceptibility: a tale of two rare diseases-a case report
Maria Rita Lima1, Joana Certo Pereira1, Sérgio Maltês1,2
1Cardiology Department, Hospital de Santa Cruz, Avenida Prof. Dr. Reinaldo dos Santos, 2790-134 Lisbon, Portugal.
Insights
Cardiac sarcoidosis (CS) can mimic other cardiomyopathies. Genetic testing revealed a pathogenic dystrophin gene deletion in a patient with presumed CS, suggesting a superimposed genetic substrate on acquired inflammation.
Area of Science:
- Cardiology
- Genetics
- Immunology
Background:
- Cardiac sarcoidosis (CS) is a rare inflammatory condition affecting the heart muscle.
- Manifestations include heart failure, arrhythmias, and conduction abnormalities.
- Cardiac MRI is crucial for diagnosis, but late gadolinium enhancement (LGE) patterns can be non-specific.
Observation:
- A 40-year-old male with known sarcoidosis presented with ventricular arrhythmias and reduced left ventricular function.
- Cardiac MRI showed edema and a distinctive 'ring-like' LGE pattern.
- Biomarkers indicated inflammation, but endomyocardial biopsy was normal.
Findings:
- A presumptive diagnosis of CS was made, leading to immunosuppression and recovery of LV function.
- Genetic testing identified a likely pathogenic deletion in the dystrophin gene.
- This suggests CS may have occurred in a patient with a pre-existing genetic cardiomyopathy.
Implications:
- This case underscores the importance of considering genetic cardiomyopathies alongside acquired conditions like CS.
- The diagnostic pathway for primary cardiomyopathies should integrate genetic evaluation.
- Understanding the interplay between genetic predisposition and acquired insults is key for managing myocardial disease.
Background:
Sarcoidosis is a rare inflammatory disease characterized by the presence of myocardial non-caseating granulomas. Heart failure, conduction abnormalities, and/or life-threatening arrhythmias are the main manifestations of cardiac sarcoidosis (CS). Cardiac magnetic resonance 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 ventricular (LV) dilation and moderately reduced systolic function. Computed tomography angiography excluded coronary artery disease. Cardiac magnetic resonance 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. N-terminal pro-brain natriuretic peptide was 110 pg/mL, and high-sensitivity troponin T was 20 ng/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.
