Abstract
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.
Keywords:
NLRP1-associated autoinflammation with arthritis and dyskeratosis; autoimmune; autoinflammation; cardiac dysfunction; cardiac involvement; left bundle branch block.
MeSH terms
-
Adaptor Proteins, Signal Transducing / genetics*
-
Apoptosis Regulatory Proteins / genetics*
-
Arthritis, Juvenile / complications*
-
Arthritis, Juvenile / genetics
-
Arthritis, Juvenile / immunology
-
Bundle-Branch Block / diagnosis
-
Bundle-Branch Block / etiology*
-
Bundle-Branch Block / physiopathology
-
Child
-
Dyskeratosis Congenita / complications*
-
Dyskeratosis Congenita / genetics
-
Echocardiography
-
Electrocardiography
-
Female
-
Hereditary Autoinflammatory Diseases / complications*
-
Hereditary Autoinflammatory Diseases / genetics
-
Hereditary Autoinflammatory Diseases / immunology
-
Humans
-
Mutation*
-
NLR Proteins
-
Syndrome
-
Ventricular Dysfunction, Left / diagnosis
-
Ventricular Dysfunction, Left / ethnology*
-
Ventricular Dysfunction, Left / physiopathology
Substances
-
Adaptor Proteins, Signal Transducing
-
Apoptosis Regulatory Proteins
-
NLR Proteins
-
NLRP1 protein, human