Delayed Presentation of Catheter-related Subclavian Artery Pseudoaneurysm.

Central venous catheterization is a common diagnostic and therapeutic procedure in modern clinical practice. Pseudoaneurysms of the subclavian artery are rare and usually occur immediately after the causative event, whether the cause was trauma or a medical procedure. Here, we report a case of a 71-year-old woman with delayed presentation of catheter-related subclavian pseudoaneurysm. The patient's symptoms began two weeks after the initial catheterization, probably because of slow leakage of blood from the injured subclavian artery caused by incomplete compression of the puncture site and uremic coagulopathy. She was successfully treated with ultrasound-guided thrombin and angiography-guided histoacryl injection without stent insertion or surgery.

Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia.

Familial hypercholesterolemia (FH), a monogenic disease known to be caused by low-density lipoprotein receptor (LDLR) gene mutations, results in the development of premature atherosclerosis and coronary artery disease in affected individuals. The spectrum of LDLR gene mutations in Russia is poorly known. Using polymerase chain reaction (PCR)-single-strand conformational polymorphism (SSCP) analysis, followed by DNA sequencing, we have screened selected exons of the LDLR gene in 80 unrelated St. Petersburg FH patients for the presence of mutations. Two new LDLR gene mutations, 347delGCC and E397X, were characterized among individuals with familial hypercholesterolemia in St. Petersburg. The carriers of both mutations possessed highly elevated blood serum cholesterol. Cosegregation of E397X mutation and LDLR gene RFLP haplotypes with hyperlipidemia was demonstrated by family study. Both mutations seem to be specific to Slavic patients.