Exercise echocardiography predicts postoperative left ventricular remodeling in aortic regurgitation.

OBJECTIVE: We aimed to investigate if preoperative left ventricular (LV) function assessed by exercise echocardiography could predict late postoperative LV function in aortic regurgitation (AR) patients and to evaluate how LV long-axis function is affected late after aortic valve surgery. DESIGN: A total of 21 male chronic AR patients, aged 49 ( 12 ) years, accepted for surgery were examined preoperatively, 6 months-, and 4 years postoperatively, at rest and during exercise. Besides conventional echocardiographic parameters, the atrioventricular plane displacement (AVPD) by M-mode and peak systolic velocity (s') in the basal LV by color tissue Doppler were measured. RESULTS: Preoperatively EF rest and EF exercise, were 55( 7 )% and 54( 9 )%, respectively, and ∆EF 0( 8 )%. LV dimensions and volumes indexed to BSA had decreased at the 6-month follow-up and were stable at late follow-up. s'rest, s'exercise, AVPD rest, and AVPD exercise were unchanged at both the postoperative examinations (all P ≥ 0.05). Preoperative EF exercise and AVPD exercise showed inverse correlation to late postoperative indexed LV enddiastolic volume (r = -0.68, p < 0.004 and r = -0.86, P < 0.001) and indexed LV endsystolic volume (r = -0.68, P = 0.004 and r = -0.81, P < 0.001), while there was no correlation to preoperative EF rest and AVPD rest (all r < 0.2). CONCLUSIONS: Preoperative exercise echocardiography can detect AR patients with suboptimal LV remodeling late postoperatively.

Differences in recovery of left and right ventricular function following aortic valve interventions: a longitudinal echocardiographic study in patients undergoing surgical, transapical or transfemoral aortic valve implantation.

OBJECTIVES: To evaluate longitudinal left and right ventricular function (LVF and RVF) after transcatheter aortic valve implantation (TAVI) as compared to surgical aortic valve replacement (SAVR) and LVF and RVF after TAVI by the transfemoral (TF) or transapical (TA) approach. BACKGROUND: Knowledge about differences in recovery of LVF and RVF after TAVI and SAVR is scarce. METHODS: Sixty patients (age 81 ± 7 years, logistic EuroSCORE 16 ± 10%), undergoing TAVI (TF: n = 35 and TA: n = 25), were examined by echocardiography including atrioventricular plane displacement (AVPD) and peak systolic velocities (PSV) by tissue Doppler at basal RV free wall, LV lateral wall and septum preprocedurally, 7 weeks and 6 months postprocedurally. Twenty-seven SAVR patients were matched to 27 TAVI patients by age, gender and LVF. RESULTS: Early postintervention, TAVI patients had improved longitudinal LVF. However, when analyzed separately, only TF, but not TA patients, had improved LV lateral and septal AVPD and PSV (all P ≤ 0.01). All TAVI patients, as well as the TF and TA group had unchanged longitudinal LVF between the early and late follow-ups (all P > 0.05). The SAVR group had higher septal LVF than the matched TAVI group preprocedurally, while postoperatively this difference was diminished. Longitudinal RVF was better in the TF group than in the TA group pre- and postprocedurally. Although the SAVR group had superior longitudinal RVF preoperatively, this was inferior to TAVI postoperatively. CONCLUSIONS: Postprocedural longitudinal LVF and RVF in patients undergoing TF-TAVI, TA-TAVI, or SAVR differ considerably. Preservation of longitudinal RVF after TAVI might influence the selection of aortic valve intervention in the future.

[Cosmetic breast implants can influence cardiac imaging]. / Bröstimplantat kan försvåra diagnostik av hjärtsjukdomar.

Cosmetic breast implants are increasing in popularity. The presence of foreign material overlying the anterior wall of the heart can influence cardiac imaging and lead to misdiagnosis of cardiac disease.  Echocardiography is commonly used in patients for evaluation of cardiac structure and function. Breast implants can cause impaired quality of the echocardiographic images because of an interaction between the implant material and the ultrasound beam, and as a consequence this can lead to a decreased diagnostic accuracy. In myocardial perfusion imaging breast implant can induce attenuation artifacts, which can be mistaken for myocardial infarction. The number of indications for cardiac MRI examinations are increasing, but also with this technique the presence of breast implants can induce artefacts that impair the possibilities to optimal quality. Women considering breast augmentation should be informed of the risk that the procedure can result in impaired quality of different cardiac imaging modalities.

Left and right ventricular function in aortic stenosis patients 8 weeks post-transcatheter aortic valve implantation or surgical aortic valve replacement.

AIMS: Knowledge of longitudinal left and right ventricular (LV and RV) function after transcatheter aortic valve implantation (TAVI) is scarce. We hypothesized that the longitudinal systolic biventricular function in aortic stenosis (AS) patients is affected differently by TAVI and surgical aortic valve replacement (SAVR). METHODS AND RESULTS: Thirty-three AS patients (all-TAVI group, age 81 ± 9 years, 18 female), with EuroSCORE 18 ± 9%, were accepted for TAVI. Seventeen of these patients were matched (by gender, age, and LV function) to 17 patients undergoing SAVR. Conventional echocardiographic parameters, systolic atrioventricular plane displacement (AVPD) at standard sites and peak systolic velocity (PSV) by pulsed tissue Doppler at basal RV free wall, LV lateral wall, and septum were studied before and 8 weeks after the procedure. Procedural success was 100%, and 30-day mortality 9%. In all TAVI patients, AVPD(lateral), PSV(lateral), AVPD(septal), and PSV(septal) increased (P< 0.001, 0.003, 0.006 and 0.002). When studying the matched patients postoperatively, both the SAVR and TAVI patients had increased PSV(lateral) and AVPD(lateral) (SAVR: P=0.03 and P=0.04, TAVI: P=0.04 and P=0.01). The PSV(RV) increased in the all-TAVI group (P=0.007), while the AVPD(RV) was unchanged. SAVR patients had decreased AVPD(RV) (P=0.001) and PSV(RV) (P=0.004), while the matched TAVI patients had unchanged RV function parameters. CONCLUSION: An improvement in regional longitudinal LV function in the septal and lateral wall could be seen after TAVI. Among the matched patients, both the TAVI and SAVR patients seemed to improve LV function in the lateral wall. RV systolic function increased in TAVI patients, but was impaired in the matched SAVR group at the 8-week follow-up.

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a rare multiple congenital anomaly/mental retardation syndrome characterized by distinctive dysmorphic facial features, severe growth and developmental delay and abnormalities of the upper limbs. About 50% of CdLS patients have been found to have heterozygous mutations in the NIPBL gene and a few cases were recently found to be caused by mutations in the X-linked SMC1L1 gene. We performed a mutation screening of all NIPBL coding exons by direct sequencing in 11 patients (nine sporadic and two familial cases) diagnosed with CdLS in Sweden and detected mutations in seven of the cases. All were de novo, and six of the mutations have not been previously described. Four patients without identifiable NIPBL mutations were subsequently subjected to multiplex ligation-dependent probe amplification analysis to exclude whole exon deletions/duplications of NIPBL. In addition, mutation analysis of the 5' untranslated region (5' UTR) of NIPBL was performed. Tiling resolution array comparative genomic hybridization analysis was carried out on these four patients to detect cryptic chromosome imbalances and in addition the boys were screened for SMC1L1 mutations. We found a de novo 9p duplication with a size of 0.6 Mb in one of the patients with a CdLS-like phenotype but no mutations were detected in SMC1L1. So far, two genes (NIPBL and SMC1L1) have been identified causing CdLS or CdLS-like phenotypes. However, in a considerable proportion of individuals demonstrating the CdLS phenotype, mutations in any of these two genes are not found and other potential loci harboring additional CdLS-causing genes should be considered.

Repeated blood pressure measurements in a sample of Swedish twins: heritabilities and associations with polymorphisms in the renin-angiotensin-aldosterone system.

BACKGROUND: Twin and family studies have shown that genetic effects explain a relatively high amount of the phenotypic variation in blood pressure. However, many studies have not been able to replicate findings of association between specific polymorphisms and diastolic and systolic blood pressure. METHODS: In a structural equation-modelling framework the authors investigated longitudinal changes in repeated measures of blood pressures in a sample of 298 like-sexed twin pairs from the population-based Swedish Twin Registry. Also examined was the association between blood pressure and polymorphisms in the angiotensin-I converting enzyme and the angiotensin II receptor type 1 with the 'Fulker' test. Both linkage and association were tested simultaneously revealing whether the polymorphism is a Quantitative Trait Locus (QTL) or in linkage disequilibrium with the QTL. RESULTS: Genetic influences explained up to 46% of the phenotypic variance in diastolic and 63% of the phenotypic variance in systolic blood pressure. Genetic influences were stable over time and contributed up to 78% of the phenotypic correlation in both diastolic and systolic blood pressure. Non-shared environmental effects were characterised by time specific influences and little transmission from one time point to the next. There was no significant linkage and association between the polymorphisms and blood pressure. CONCLUSIONS: There is a considerable genetic stability in both diastolic and systolic blood pressure for a 6-year period of time in adult life. Non-shared environmental influences have a small long-term effect. Although associations with the polymorphisms could not be replicated, results should be interpreted with caution due to power considerations.