BACKGROUND: To point out a possible correlation between left atrial volume index (LAVI) and left ventricular (LV) diastolic time interval to better define LV diastolic dysfunction, this study was performed. METHODS: In 62 hypertensive-hypertrophic patients without LV systolic dysfunction, LV volumes, myocardial mass index, ejection fraction% (EF%) and LAVI were measured by two-dimensional echocardiography. Instead, tissue Doppler echocardiography (TDE) was used to measure myocardial performance index (MPI) and its systo-diastolic time intervals, such as: iso-volumetric contraction time (IVCT); iso-volumetric relaxation time (IVRT); ejection time. LAVI, TDE-MPI and time intervals where also measured in 15 healthy controls, to obtain the reference values. RESULTS: Results shown a significant increase of LV volumes in hypertensives in comparison to the control group (p < 0.05). LV mass index also augmented (p < 0.001). Instead, EF% not significantly changed in hypertrophic patients in comparison with healthy controls. LAVI raised in hypertensives wih left ventricular hypertrophy, whereas IVCT resulted within the normal limits. On the contrary, IVRT significantly raised. Accordingly, MPI resulted higher in controls. CONCLUSION: LAVI, MPI and its time intervals appear as reliable tools to non-invasively individualize LV diastolic dysfunction in systemic hypertension, in absence of mitral valve disease.
Contracts ; Echocardiography ; Echocardiography, Doppler ; Humans ; Hypertension ; Hypertrophy, Left Ventricular ; Mitral Valve ; Relaxation

BACKGROUND: To point out a possible correlation between left atrial volume index (LAVI) and left ventricular (LV) diastolic time interval to better define LV diastolic dysfunction, this study was performed. METHODS: In 62 hypertensive-hypertrophic patients without LV systolic dysfunction, LV volumes, myocardial mass index, ejection fraction% (EF%) and LAVI were measured by two-dimensional echocardiography. Instead, tissue Doppler echocardiography (TDE) was used to measure myocardial performance index (MPI) and its systo-diastolic time intervals, such as: iso-volumetric contraction time (IVCT); iso-volumetric relaxation time (IVRT); ejection time. LAVI, TDE-MPI and time intervals where also measured in 15 healthy controls, to obtain the reference values. RESULTS: Results shown a significant increase of LV volumes in hypertensives in comparison to the control group (p < 0.05). LV mass index also augmented (p < 0.001). Instead, EF% not significantly changed in hypertrophic patients in comparison with healthy controls. LAVI raised in hypertensives wih left ventricular hypertrophy, whereas IVCT resulted within the normal limits. On the contrary, IVRT significantly raised. Accordingly, MPI resulted higher in controls. CONCLUSION: LAVI, MPI and its time intervals appear as reliable tools to non-invasively individualize LV diastolic dysfunction in systemic hypertension, in absence of mitral valve disease.
Contracts ; Echocardiography ; Echocardiography, Doppler ; Humans ; Hypertension ; Hypertrophy, Left Ventricular ; Mitral Valve ; Relaxation

A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient gel electrophoresis (DGGE), denaturing high performance liquid chromatography (DHPLC), and direct sequencing. In recent years, it has been shown that a significant proportion of undetermined alleles consist of large deletions overlapping one or more exons. These deletions have been difficult to detect in compound heterozygotes using gene-scanning methods due to a masking effect of the non-deleted allele. To date, no systematic search has been carried out for such exon deletions in Italian patients with phenylketonuria or mild hyperphenylalaninemia. We used multiplex ligation- dependent probe amplification (MLPA), comparative multiplex dosage analysis (CMDA), and real-time PCR to search for both large deletions and duplications of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemia patients. Four deletions removing different phenylalanine hydroxylase (PAH) gene exons were identified in 12 patients. Two of these deletions involving exons 4-5-6-7-8 (systematic name c.353-?_912 + ?del) and exon 6 (systematic name c.510-?_706 + ?del) have not been reported previously. In this study, we show that exon deletion of the PAH gene accounts for 1.7% of all mutant PAH alleles in Italian hyperphenylalaninemics.
DNA Mutational Analysis/*methods ; Disease Progression ; Exons/genetics ; Gene Frequency ; Humans ; Italy ; Phenylalanine Hydroxylase/*genetics/metabolism ; Phenylketonurias/epidemiology/*genetics/physiopathology ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Deletion/genetics