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1.
Indian Heart J ; 68 Suppl 2: S284-S287, 2016 Sep.
Article En | MEDLINE | ID: mdl-27751317

Familial constrictive pericarditis is extremely rare. We report a case of two brothers both suffering constrictive pericarditis along with having multiple painless joint deformities. Genetic workup confirmed the clinical diagnosis of camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome CACP syndrome and also revealed a rare mutation in the causative gene.


Arthropathy, Neurogenic/genetics , Coxa Vara/genetics , DNA/genetics , Hand Deformities, Congenital/genetics , Mutation , Pericarditis, Constrictive/genetics , Proteoglycans/genetics , Rare Diseases , Siblings , Synovitis/genetics , Adolescent , Arthropathy, Neurogenic/diagnosis , Arthropathy, Neurogenic/metabolism , Cardiac Catheterization , Child , Coxa Vara/diagnosis , Coxa Vara/metabolism , DNA Mutational Analysis , Echocardiography , Genetic Testing , Hand Deformities, Congenital/diagnosis , Hand Deformities, Congenital/metabolism , Humans , Male , Pedigree , Pericarditis, Constrictive/diagnosis , Pericarditis, Constrictive/metabolism , Proteoglycans/metabolism , Synovitis/diagnosis , Synovitis/metabolism
2.
World J Pediatr Congenit Heart Surg ; 6(4): 646-9, 2015 Oct.
Article En | MEDLINE | ID: mdl-26467880

An 18-year-old boy with congenital erythropoietic porphyria and calcific constrictive pericarditis underwent total pericardiectomy. The cause of pericardial calcification could be deposition of porphyrins in the pericardium. Surgical importance of this rare condition is highlighted.


Pericardiectomy/methods , Pericarditis, Constrictive/etiology , Porphyria, Erythropoietic/complications , Adolescent , Echocardiography , Humans , Male , Pericarditis, Constrictive/genetics , Pericarditis, Constrictive/surgery , Pericardium/metabolism , Porphyria, Erythropoietic/diagnosis , Porphyria, Erythropoietic/genetics , Porphyrins/metabolism , Tomography, X-Ray Computed
3.
Heart Fail Clin ; 6(2): 179-86, 2010 Apr.
Article En | MEDLINE | ID: mdl-20347786

Restrictive physiology, a severe form of diastolic dysfunction, is characteristically observed in the setting of constrictive pericarditis and myocardial restriction. The latter is commonly due to systemic diseases, some of which are inherited as mendelian traits (eg, hereditary amyloidosis), while others are multifactorial (eg, sarcoidosis). When restrictive physiology occurs as an early and dominant feature of a primary myocardial disorder, it may be termed restrictive cardiomyopathy. In the past decade, clinical and genetic studies have demonstrated that restrictive cardiomyopathy as such is part of the spectrum of sarcomeric disease and frequently coexists with hypertrophic cardiomyopathy in affected families.


Cardiomyopathy, Restrictive/genetics , Pericarditis, Constrictive/genetics , Cardiomyopathy, Hypertrophic/genetics , Diastole , Genetic Predisposition to Disease , Humans , Risk Factors , Sarcomeres/pathology
4.
Circulation ; 110(18): 2910-7, 2004 Nov 02.
Article En | MEDLINE | ID: mdl-15505106

BACKGROUND: Constrictive pericarditis represents a serious hemodynamic syndrome that may lead to heart failure. Studies of its pathophysiological mechanisms have been impeded by the lack of an animal model. METHODS AND RESULTS: Cardiac myosin-induced experimental autoimmune myocarditis in interferon (IFN)-gamma-knockout (KO) mice results in increased cardiac inflammation and development of severe grossly detectable pericarditis. Using in vivo pressure-volume studies, we found that the acute phase of experimental autoimmune myocarditis in IFN-gamma-KO mice was characterized by reduced left ventricular (LV) volumes compared with wild-type mice. The KO mice exhibited a classic restrictive/constrictive phenotype with decreased cardiac output, increased chamber stiffness, preserved ejection fraction, and impaired diastolic filling, characterized by reduced deceleration time and pressure tracings showing the square root sign similar to that observed in clinical cases of constrictive pericarditis. This phenotype was not associated with the severity of myocarditis but correlated with the presence of grossly detectable adhesive pericarditis present only in the KO group and characterized by increased pericardial inflammation and fibrosis. Comparison of IFN-gamma-KO and wild-type mice matched for the severity of myocardial disease further confirmed that pericarditis, and not myocarditis, was responsible for smaller LV volumes, reduced cardiac output, increased cardiac stiffness, and increased peak filling rate adjusted for end-diastolic volumes in KO mice. CONCLUSIONS: Autoimmune heart disease in IFN-gamma-KO mice results in increased pericardial inflammation and fibrosis, leading to constrictive phenotype during the acute phase of disease. It represents a novel animal model of constrictive pericarditis.


Autoimmune Diseases/immunology , Disease Models, Animal , Interferon-gamma/deficiency , Myocarditis/immunology , Pericarditis, Constrictive/immunology , Animals , Autoimmune Diseases/genetics , Autoimmune Diseases/pathology , Autoimmune Diseases/physiopathology , Cardiac Output, Low/etiology , Diastole , Female , Fibrosis , Heart Ventricles/pathology , Interferon-gamma/genetics , Mice , Mice, Inbred BALB C , Mice, Knockout , Myocarditis/genetics , Myocarditis/physiopathology , Organ Size , Pericarditis, Constrictive/genetics , Pericarditis, Constrictive/pathology , Pericarditis, Constrictive/physiopathology , Phenotype , Pressure , Stroke Volume , Weight Loss
5.
Mayo Clin Proc ; 77(1): 39-43, 2002 Jan.
Article En | MEDLINE | ID: mdl-11794456

OBJECTIVE: To describe a cluster of cases of pericarditis in a midwestern family of German and Danish ancestry. PATIENTS AND METHODS: Retrospective review of available medical records identified 5 family members in 2 generations with confirmed diagnosis of pericarditis. RESULTS: Five family members, 3 males and 2 females, presented for medical evaluation of recurrent chest pain between 1969 and 1991. Physical examination resulted in the diagnosis of pericarditis with effusive and constrictive features. The age at presentation ranged from 8 to 46 years. Despite extensive investigations, an idiopathic etiology was assigned to each case. In follow-up, all 5 family members had recurrent episodes of chest pain, self-limiting or responsive to medical therapy, but the effusive component remained a notable feature of the syndrome. CONCLUSIONS: Diagnosis of pericarditis in 5 family members may represent the first description of familial clustering of isolated pericarditis. In addition, 3 other family members had symptoms of chest pain, but pericarditis remained undiagnosed. The aggregate history suggests autosomal dominant inheritance with incomplete penetrance.


Pericardial Effusion/genetics , Pericarditis, Constrictive/genetics , Adult , Child , Cluster Analysis , Female , Humans , Male , Middle Aged , Pedigree , Recurrence , Retrospective Studies , Wisconsin
7.
Jpn Heart J ; 38(5): 749-53, 1997 Sep.
Article En | MEDLINE | ID: mdl-9462424

Two cases of familial porphyria cutanea tarda (PCT) with constrictive pericarditis are described. A 50-year-old woman and her 48-year-old younger brother were admitted because of right ventricular heart failure. Constrictive pericarditis was diagnosed by RV pressure waveform and echocardiogram. The patients were diagnosed as PCT based on clinical symptoms, histologic findings and elevated urinary excretion levels of uroporphyrin. Even to this day, over 40% of the etiology of constrictive pericarditis remains unknown. There is a possibility of overlooking porphyria cutanea tarda in constrictive pericarditis patients. This report describes the first documented cases of familial PCT with constrictive pericarditis.


Pericarditis, Constrictive/genetics , Porphyria Cutanea Tarda/genetics , Coproporphyrins/urine , Echocardiography , Family Health , Female , Humans , Male , Middle Aged , Pericarditis, Constrictive/diagnostic imaging , Pericarditis, Constrictive/etiology , Porphyria Cutanea Tarda/complications , Uroporphyrins/urine
8.
Am J Med Genet ; 55(3): 349-55, 1995 Jan 30.
Article En | MEDLINE | ID: mdl-7726235

We report on 3 patients with Mulibrey nanism (MN), or Perheentupa syndrome: the first 2 sibs from Argentina and a new patient from Spain. All 3 patients had growth failure, short stature, abnormal pigmentary retinal changes, and a J-shaped sella turcica. These findings are considered major criteria of MN. Two had pericardial constriction, which is a frequent and life-threatening abnormality in this syndrome. MN is a rare autosomal recessive condition. Reviewing the 39 patients described so far, we have classified the anomalies into the very frequent (present in more than 66%), frequent (in at least 25%), and not frequent. Identifying the anomalies specific to MN should help its early diagnosis and treatment.


Abnormalities, Multiple/genetics , Dwarfism/genetics , Pericarditis, Constrictive/genetics , Sella Turcica/abnormalities , Cerebral Ventricles/abnormalities , Child, Preschool , Eye Abnormalities/genetics , Face/abnormalities , Genes, Recessive , Hepatomegaly/genetics , Humans , Infant , Infant, Newborn , Male , Muscle Hypotonia/genetics , Syndrome
9.
Clin Dysmorphol ; 4(1): 63-9, 1995 Jan.
Article En | MEDLINE | ID: mdl-7735507

Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver, brain, eye). Identification of this syndrome is important for genetic counselling of the parents (25% recurrence risk, McKusick No. 253250).


Dwarfism/diagnosis , Child, Preschool , Dwarfism/genetics , Dwarfism/pathology , Eye Abnormalities/genetics , Face/abnormalities , Humans , Male , Pericarditis, Constrictive/genetics , Phenotype , Syndrome
12.
J Pediatr ; 88(4 Pt 1): 569-72, 1976 Apr.
Article En | MEDLINE | ID: mdl-1255313

Two siblings with marked dwarfism, now 11 and 19 years of age, have been followed from infancy. The girl had frequent episodes of pneumonitis and presented at age 4 years with hepatic enlargement and ascites which proved to be due to constrictive pericarditis. The boy presented with growth failure and pseudohydrocephalus. He had fibrous dysplasia of the tibia and a pathologic fracture; acute hepatic congestion followed physical activity at age 13 years and led to the diagnosis of constrictive pericarditis. Muscle function was normal, there was no evidence for a primary liver disorder, and mental development was normal so that the coined word "mulibray" seemed inappropriate. Pericardiectomy produced only partial improvement; both patients have hepatic enlargement and continue to need diuretics. A third patient with dwarfism, frequent respiratory infections, and pericardial calcification has certain features of the syndrome.


Pericarditis, Constrictive/genetics , Adolescent , Child , Female , Hepatomegaly/genetics , Humans , Male , Muscles/physiopathology , Pericarditis, Constrictive/surgery , Skull/abnormalities , Syndrome
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