Transient left bundle branch block and left ventricular dysfunction in a patient with NLRP1-associated autoinflammation with arthritis and dyskeratosis syndrome
- Resource Type
- Authors
- Esther P A H Hoppenreijs; Mark R. Garrelfs; Ronald B. Tanke
- Source
- Cardiology in the Young, 29, 3, pp. 435-438
Cardiology in the Young, 29, 435-438
- Subject
- medicine.medical_specialty
Exacerbation
Bundle-Branch Block
Arthritis
NLR Proteins
030204 cardiovascular system & hematology
Dyskeratosis Congenita
Cardiac dysfunction
03 medical and health sciences
Electrocardiography
Ventricular Dysfunction, Left
0302 clinical medicine
All institutes and research themes of the Radboud University Medical Center
Internal medicine
medicine
Humans
Child
030304 developmental biology
Adaptor Proteins, Signal Transducing
0303 health sciences
Left bundle branch block
business.industry
NLRP1
Other Research Radboud Institute for Health Sciences [Radboudumc 0]
Hereditary Autoinflammatory Diseases
General Medicine
Impaired left ventricular function
Syndrome
medicine.disease
Dyskeratosis
Arthritis, Juvenile
Methylprednisolone
Echocardiography
Pediatrics, Perinatology and Child Health
Mutation
Cardiology
Female
Cardiology and Cardiovascular Medicine
business
Apoptosis Regulatory Proteins
Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]
medicine.drug
- Language
- ISSN
- 1467-1107
1047-9511
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.