Antiphospholipid Syndrome (APS) is an autoimmune disease featured by venous or arterial thrombosis, fetal losses and thrombocytopenia in the presence of antiphospholipid antibodies. Here we reported one case of antiphospholipid syndrome together with dilated cardiomyopathy. A 46-year-old female patient complaining short of breath was found enlargement of atrial and ventricular compartments. The ecletrocardiogram and blood test revealed anteroseptal myocardial infarction, while no pulmonary thrombosis was present and therefore diagnosis of dilated cardiomyopathy was made. There were also thrombi formed in the cardial chambers and deep venous. During hospitalization, there was an onset of ischemic brain stroke and head MRI showed newly developed small infarctions. An elevation of anticardiolipin immunoglobulin A (ACAIGA) was detected from the blood sample. The patient was discharged after being treated with anticoagulant, corticosteroid and other medicines for improving heart function. In our case, APS is the basic cause leading to multi-organ thrombosis and heart failure is mainly due to dilated cardiomyopathy, thus independent of APS. So this is the first time that cardiomyopathy co-existing with APS was reported.
Lihua Zhong, Lanshu Yang, Xueqi Li and Shipeng Wei Heart Failure with Multi-organ Thrombosis: A Case of Antiphospholipid Syndrome Co-existing with Cardiomyopathy // Russian Open Medical Journal, Vol. 1, Issue 2, 2012, pp. 204-0

AIMS: Penetrance and phenotypic expressivity of cardiomyopathies are modulated by modifier genes both in model systems and patients. We aimed to dissect the disease-modifying mechanisms by examining genome-wide gene expression in a new set of mouse (Mus musculus) congenic strains. METHODS AND RESULTS: Mutant alleles of the genes calsarcin-1 (Myoz2), sarcoglycan-delta (Sgcd), and muscle LIM protein (Csrp2) were each transferred onto inbred strain backgrounds C57BL/6, C3H/He, 129S1/Sv, and FVB/N, respectively. At 9-10 weeks of age, left ventricular pump function (fractional shortening, FS) was determined by echocardiography in non-sedated congenic animals. Gene expression was then analysed in myocardial tissue using the Affymetrix Mouse 430.2 microarray platform. Variance stabilization, linear mixed-effects modelling, correlations, gene functional classification, and pathway analysis were conducted using the standard software. Strain background FVB/N appeared to protect against the consequences of gene inactivation. Sgcd-deficient congenics showed normal FS, which was consistent with their hypertrophic cardiomyopathy phenotype. Animals with other allele/background combinations developed an impaired ventricular pump function (FS <65%). Gender did not influence FS significantly, yet it determined the sets of genes that were differentially expressed in mice with low FS. In particular, genes encoding the elements of the ubiquitin-proteasome system (UPS) were strongly correlated with the cardiac impairment (absolute Spearman r≥ 0.7) in both males and females. CONCLUSION: Gene expression profiling in a novel set of congenic strains revealed an association between the UPS and myocardial contractile function, indicating that the UPS may be an important modifier of phenotypic variability in cardiomyopathies.
Cardiovascular Research (2012) 94(1): 87-95