The NLRP1-associated autoinflammation with arthritis and dyskeratosis syndrome is a rare novel autoinflammatory disorder. Cardiac involvement has not been previously reported. We present a 12-year-old girl with NLRP1-associated autoinflammation with arthritis and dyskeratosis syndrome who was diagnosed with severely impaired left ventricular function and complete left bundle branch block during an exacerbation of the disease. Cardiac dysfunction proved to be rapidly reversible after initiation of high-dose methylprednisolone.

Patients with myocardial infarction can present to the Emergency Department with atypical symptoms. A 60-year-old male presented with a fever for two days and ongoing hiccups he had experienced for four hours. He also had experienced an episode of vomiting. An electrocardiograph revealed ascending limbs of the S-waves in leads V3/V4, notching > 0.05 seconds in the ascending limbs of the R-waves in leads I, aVL, V6, and the presence of a left bundle branch block.

Isolated noncompaction of the ventricular myocardium is a rare congenital cardiomyopathy resulting from an arrest in normal endomyocardial embryogenesis. The diagnosis can be made echocardiographically, and the entity may be associated with problems of cardiac rhythm. We describe two illustrative cases, with Wolf-Parkinson-White syndrome in one, and left bundle branch block in the other. We emphasize that children with problems of rhythm and findings suggestive for left ventricular cardiomyopathy, either hypertrophic or dilated; should be investigated to exclude isolated noncompaction of the ventricular myocardium.