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OBJECTIVES Prosthesis-patient mismatch (PPM) after surgical aortic valve replacement (SAVR) for severe aortic valve stenosis (AVS) is common, but less common after transcatheter aortic valve replacement (TAVR) in patients considered at high risk for death after surgery. The objectives of this study were to determine incidence and clinical effect of PPM after SAVR and TAVR in a primarily low-risk patient group. METHODS Patients 70 years or older with severe isolated AVS, regardless of predicted operative mortality risk, were consecutively randomized 1:1 to TAVR using a self-expandable bioprosthesis (n = 145) or SAVR (n = 135). Post-procedure PPM was graded after 3 months as follows: Not present-mild, if indexed effective orifice area (iEOA) >0.85 cm2/m2, moderate, if 0.65 cm2/m2 < iEOA ≤ 0.85 cm2/m2 and severe, if iEOA ≤0.65 cm2/m2. Outcomes were major adverse cardiac and cerebrovascular events (MACCE, e.g. composite rate of all-cause death, stroke, myocardial infarction or valve reintervention), cardiac-related hospitalizations and New York Heart Association (NYHA) functional class after 2 years. RESULTS The incidence and the severity of PPM were significantly lower after TAVR compared with SAVR (severe, moderate, none-mild 14.0, 35.5, 50.4 vs 33.9, 36.7, 29.4%; P

Familial defective apolipoprotein B (FDB) is a clinical condition resembling familial hypercholesterolemia. The underlying genetic defects are mutations in the apolipoprotein B-100 (apo B-100) gene. Two mutations (Arg3500 --> Gln and Arg3531 --> Cys) are known to date. We designed a denaturing gradient-gel electrophoresis (DGGE) technique to detect sequence variations in codons 3456-3553 of the apo B-100 gene. In 46 heterozygous FDB patients with the predominant codon 3500 mutation, a uniform four-band DGGE pattern was seen, whereas 57 non-FDB patients showed the uniform single-band pattern expected in normal homozygotes. The recently described codon 3531 mutation and a previously unpublished Arg --> Pro mutation in codon 3480 showed unique DGGE patterns, allowing unambiguous differentiation of the three mutations. The DGGE method thus both detects known FDB mutations and screens for other mutations in codons 3456-3553 of the low-density lipoprotein receptor binding region of apo B-100; it can be used as a first-line screening method for FDB.

In a population of 930,000 inhabitants all records of native valve infective endocarditis diagnosed in the decade 1980-89 were reviewed. Using strict case definitions 132 clinically well-defined or post-mortem diagnosed cases were found. Included were cases referred to the local department of cardiology, as well as cases treated in non-specialized departments. Of 132 cases found 23 were only diagnosed post mortem. The male/female ratio was 71/61. The median prehospital duration of symptoms was 20 days (range 0-180 days) and the median in-hospital diagnostic delay was 5 days (range 0-54 days). Known cardiac disease was found in 42% of cases, a possible portal of entry was found in 33%, but in 36% there were no predisposing factors. Remarkably, only two patients had known rheumatic heart disease and none had a known dental focus. During the clinical course 55% experienced cardiac failure and 17% embolic episodes. In 19 patients surgery was required. Of 111 culture-positive cases streptococci were found in 61 and staphylococci in 45 cases. Echocardiography was performed in 95 cases with echocardiographic signs of endocarditis in 65 patients. Overall mortality was 33% with a mortality in clinically diagnosed cases of 18%. Of 14 cases needing immediate surgical intervention, two died.

Acute intermittent porphyria (AIP) is a dominantly inherited disorder of heme metabolism caused by a 50% decrease in the activity of porphobilinogen deaminase (EC 4.3.1.8.). The estimated prevalence of the disease is 1:1000 to 1.5:100 000, making it the most common of the neurologic porphyrias (1). Although its penetrance is only 10–20% (2), acute attacks of AIP are disabling and can be life-threatening. Prevention of acute attacks is the most important principle in managing the disease; however, it requires prior identification of individuals at risk. Because AIP has a genetic basis, molecular analysis for this disease is ultimately the most reliable way to identify gene carriers. More than 130 mutations in the porphobilinogen deaminase gene have been characterized to date (3). The majority have been restricted to a single family, or at most a few families, and no mutation accounts for more than a small percentage of all cases. With the exception of selected geographic areas where single mutations predominate (4)(5), testing for known mutations in a patient who has not previously been investigated is likely to be negative. Molecular analysis therefore requires an efficient strategy for finding the causative mutation. Denaturing gradient gel electrophoresis (DGGE) has been used by several groups to screen the exons and flanking intronic segments of the porphobilinogen deaminase gene for variations in the wild-type sequence (6)(7)(8)(9)(10)(11)(12)(13). This work has been carried out in European laboratories, and the mutations that have been discovered reflect the molecular defects within that population. By contrast, relatively few mutations have been described …