Search results for "echocardiography"
showing 2 items of 432 documents
Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
2009
In this study we clinically and genetically characterize a consanguineous family with a homozygous novel missense mutation in the delta-sarcoglycan gene and a second delta-sarcoglycan mutation that has previously been reported to cause severe autosomal-dominant dilated cardiomyopathy. We identified a novel missense mutation in exon 6 (p.A131P) of the delta-sarcoglycan gene, which in a homozygous state leads to the clinical picture of a limb girdle muscular dystrophy. In four heterozygous carriers for the mutation, aged 3-64 years, a second sequence variant in exon 6 (p.S151A) of the delta-sarcoglycan gene was detected on the other allele. This second missense change had previously been repo…
Thrombolysis Followed by Apixaban for Massive Pulmonary Embolism and Free-floating Thrombus in Right Ventricle in a Patient with Breast Cancer
2018
Free-floating thrombus in the right ventricle, associated with a massive acute pulmonary embolism (PE), is a rare phenomenon. PE is an important clinical entity with considerable mortality despite advances in diagnosis and treatment. The prognosis of PE depends on right ventricular dysfunction, myocardial injury markers, and early treatment. In this report, we present the case of a 71-year-old woman with a history of breast cancer admitted to intensive care unit for PE complicated by syncope. Although our case may seem complex because it is not represented in the guidelines, the result was satisfactory and showed how treatment with new anticoagulants (in this case apixaban) after massive th…