Biomaterial Database

Monogenic autoinflammatory disease-associated cardiac damage. 2023

Qijiao Wei, and Li Sun

Department of Rheumatology, Children's Hospital of Fudan University, Shanghai, China.

BACKGROUND Autoinflammatory diseases (AIDs) constitute several disorders that are characterized by the presence of recurrent episodes of unprovoked inflammation due to dysregulated innate immune system in the absence of autoantibodies or infections. Most of them have a strong genetic background, with mutations in single genes involved in inflammation referred to monogenic AIDs. In this article, we will review the cardiac manifestations in various monogenic AIDs. METHODS Various cardiac manifestations can be seen in various monogenic AIDs, including pericarditis, valvular diseases, coronary diseases, cardiomyopathies, and pulmonary hypertension, especially in Familial Mediterranean fever (FMF). Monogenic AIDs can manifest a variety of cardiac lesions, the most common of which is pericardial effusion, which may be local pericardial inflammation secondary to systemic inflammatory responses. While, the pathogenesis and incidence are still unclear. More research is still needed to explore the relationship between monogenic AIDs and cardiac damage for better understanding these diseases.

UI	MeSH Term	Description	Entries
D007249	Inflammation	A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function.	Innate Inflammatory Response,Inflammations,Inflammatory Response, Innate,Innate Inflammatory Responses
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D010505	Familial Mediterranean Fever	A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene encoding PYRIN result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease also exists with mutations in the same gene.	Mediterranean Fever, Familial,Periodic Disease,Periodic Disease, Wolff's,Wolff Periodic Disease,Wolff's Periodic Disease,Benign Paroxysmal Peritonitis,Familial Mediterranean Fever, Autosomal Dominant,Familial Mediterranean Fever, Autosomal Recessive,Familial Paroxysmal Polyserositis,Periodic Peritonitis,Polyserositis, Familial Paroxysmal,Polyserositis, Recurrent,Recurrent Polyserositis,Benign Paroxysmal Peritonitides,Disease, Periodic,Disease, Wolff Periodic,Disease, Wolff's Periodic,Diseases, Periodic,Familial Paroxysmal Polyserositides,Paroxysmal Peritonitides, Benign,Paroxysmal Peritonitis, Benign,Paroxysmal Polyserositides, Familial,Paroxysmal Polyserositis, Familial,Periodic Disease, Wolff,Periodic Disease, Wolffs,Periodic Diseases,Periodic Peritonitides,Peritonitides, Benign Paroxysmal,Peritonitides, Periodic,Peritonitis, Benign Paroxysmal,Peritonitis, Periodic,Polyserositides, Familial Paroxysmal,Polyserositides, Recurrent,Recurrent Polyserositides,Wolffs Periodic Disease
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001323	Autoantibodies	Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.	Autoantibody