Prevalence of asymptomatic mitral valve malformations

Introduction  Congenital abnormalities of the mitral valve are considered to be very rare cardiac anomalies. In particular, more severe malformations, such as the complete absence of either aortic (anterior) or mural (posterior) mitral leaflet, are usually considered to be incompatible with life. Ebstein-like malformation of the mitral valve is an extremely rare form of mitral valve deformity hitherto unreported in an asymptomatic adult patient. Materials and Methods  The detection of such a malformation prompted us to perform a prospective analysis of 26,484 consecutive comprehensive 2D-echocardiographic examinations, conducted at our tertiary care university hospital between April 2007 and July 2008, with regard to the presence of malformations of the mitral valvular apparatus. Results  In total, we found three cases of hypoplastic or even absent functional mural valve leaflets. All were diagnosed in adult patients who attended our outpatient department and were surprisingly asymptomatic regarding this finding. From our patient cohort, we calculate an actual prevalence of asymptomatic hypoplasia of the mitral valve of 1:8,800. Conclusions  Our findings broaden the spectrum of known mitral valve pathologies. The comparatively high prevalence of this malformation in our preselected patient cohort might indicate that this particular malformation has so far been under-diagnosed. In the context of this observation, both embryological development of the atrioventricular (AV) valves and recent functional insights into mitral valve physiology gained by mitral valve reconstructive surgery are discussed. Electronic supplementary material  The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

Quantitative 3D pulmonary MR-perfusion in patients with pulmonary arterial hypertension: correlation with invasive pressure measurements

PURPOSE: Pathological changes of the peripheral pulmonary arteries induce pulmonary arterial hypertension (PAH). Aim of this study was to quantitatively assess the effect of PAH on pulmonary perfusion by 3D-MR-perfusion techniques and to compare findings to healthy controls. Furthermore, quantitative perfusion data were correlated with invasive pressure measurements. MATERIAL AND METHODS: Five volunteers and 20 PAH patients (WHO class II or III) were examined using a 1.5T MR scanner. Measurement of pulmonary perfusion was done in an inspiratory breathhold (FLASH3D; 3.5 mm x 1.9 mm x 4mm; TA per 3D dataset 1.5s). Injection of contrast media (0.1 mmol Gd-DTPA/kg BW) and image acquisition were started simultaneously. Evaluation of 3D perfusion was done using singular value decomposition. Lung borders were outlined manually. Each lung volume was divided into three regions (anterior, middle, posterior), and the following parameters were assessed: Time-to-Peak (TTP), blood flow (PBF), blood volume (PBV), and mean transit time (MTT). In 10 patients invasive pulmonary artery pressure measurements were available and correlated to the perfusion measurements. RESULTS: In both, controls and patients, an anterior-to-posterior gradient with higher PBF and PBV posterior was observed. In the posterior lung region, a significant difference (p<0.05) was found for TTP (12s versus 16s) and MTT (4s versus 6s) between volunteers and patients. PBF and PBV were lower in patients than in volunteers (i.e. dorsal regions: 124 versus 180 ml/100 ml/min and 10 versus 12 ml/100 ml), but the difference failed to be significant. The ratio of PBF and PBV between the posterior and the middle or ventral regions showed no difference between both groups. A moderate linear correlation between mean pulmonary arterial pressure (mPAP) and PBV (r=0.51) and MTT (r=0.56) was found. CONCLUSION: The only measurable effect of PAH on pulmonary perfusion is a prolonging of the MTT. There is only a moderate linear correlation of invasive mPAP with PBV and MTT.     

Cardiac complications in Whipple's disease

Whipple's disease or intestinal lipodystrophy is an infectioninduced by Tropheryma whipplei. It is rare with an estimatedincidence of 0.4 per million. Symptoms are arthropathy, weightloss, and diarrhoea, but other organs notably the central nervoussystem may be affected. We demonstrate a case of cardiac complicationsin Whipple's disease. The patient presented with endocardialinfiltrations on TEE examinations and heart failure and improvedafter antibiotic treatment.     

Multiplane two-dimensional strain echocardiography for segmental analysis of right ventricular mechanics

Introduction

Recent studies showed the prognostic value of strain measurements of the free right ventricular (RV) wall. The aim of this study was to evaluate the feasibility and the diagnostic value of the assessment of longitudinal mechanics of all segments of the RV by multiplane, two-dimensional transthoracic (2D) strain echocardiography.

Methods

A triplane apical visualization of the RV was attempted in each individual. RV systolic function was assessed with RV 2D strain, RV automated systolic index, real-time 3D echocardiography and RV parameters according to current guidelines.

Results

The study population (n = 118) consisted of 81 consecutive patients with overt right ventricular systolic dysfunction due to different etiologies, 13 patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and 24 healthy controls. Triplane assessment of the RV was possible in all examinations. 2D strain of 18 segments could be obtained in 75 %, 9 segments of the RV free wall in 84 % and 3 segments in four-chamber view in 96 % of the examinations. Contrary to established RV parameters, RV 2D strain detected impaired RV function in all patient groups compared to the control group. In regard to global RV function, RV 2D strain by multiplane assessment was not superior to a monoplane approach. However, segmental strain analysis was able to define the presence of impaired RV function in ARVC patients which otherwise would have been missed by current standard parameters.

Conclusion

Regional RV mechanics were reliably assessed by RV 2D strain in a multiplane apical chamber view mode.     

Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31

OBJECTIVES: The aim of our study was to identify genetic causes of primary pulmonary hypertension (PPH), to estimate the proportion of families with mutations in the BMPR2 (bone morphogenetic protein receptor type 2) gene, and to examine whether genetic heterogeneity might play a role. BACKGROUND: The BMPR2 mutations have been identified in a substantial portion of patients with familial or sporadic PPH. However, the genetic cause of PPH remains unclear in at least 45% of families. METHODS: We investigated 130 members of 10 families with at least 1 PPH patient, recruited without selection for familial disease. Manifest PPH was documented in 21 individuals. An increase in pulmonary artery systolic pressure (PASP) above 40 mm Hg during supine bicycle exercise was found in 46 healthy individuals. Their PASP increased from 21.0 +/- 4.6 mm Hg at rest to 54.0 +/- 9.8 mm Hg during exercise. In 51 relatives, PASP values were normal at rest and during exercise, and 12 members were classified as status unknown. RESULTS: Two families showed a mutation in the BMPR2 gene. Three families with no BMBR2 mutation showed evidence for linkage to a more proximal location on chromosome 2q31 (odds ratio [OR] for linkage 1.1.10(6):1). This locus, designated PPH2, maps in-between the markers D2S335 and D2S2314. We obtained significant support for heterogeneity in PPH with an OR of 2.8.10(11). CONCLUSIONS: We conclude that PPH may be a genetically heterogeneous disorder with at least two-and possibly more-causative genes.     

Liquefaction necrosis of mitral annulus calcification in a patient with chronic renal failure: an unrecognized diagnosis

Mitral annulus calcification is one of the most common cardiac calcifications. In patients with end-stage renal disease undergoing echocardiography, it can be detected in more than 40%. A specific form of mitral annulus calcification is liquefaction necrosis. It is often not adequately recognized by echocardiographers or clinicians and can be mistaken for cardiac tumor or infective vegetation. Here we report a case of liquefaction necrosis of mitral annulus calcification, mimicking an infective vegetation of the mitral valve apparatus in a patient with chronic renal failure.