Q87768739
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Arrhythmogenic cardiomyopathy is an inherited cardiomyopathy characterized by fibrofatty replacement and a high risk of ventricular arrhythmias and sudden cardiac death. This myocardial disorder is typically transmitted through autosomal dominant pattern and caused by pathogenic variants in the desmosomal and extradesmosomal genes. In this case, we are presenting a family with three members who have arrhythmogenic left ventricular cardiomyopathy. The condition was found to be caused by a nonsense mutation (c.1754 T>G (p. Leu585Ter)) in the desmoplakin (DSP) gene. Unfortunately, two of the family members were initially misdiagnosed and treated for coronary artery disease, which was not the correct diagnosis. This case demonstrates the importance of accurate differential diagnosis and the usefulness of magnetic resonance imaging (MRI) in establishing the correct diagnosis of arrhythmogenic cardiomyopathy.
- MeSH
- anamnéza MeSH
- chybná diagnóza MeSH
- desmoplakiny genetika MeSH
- genetické testování MeSH
- ischemická choroba srdeční diagnóza MeSH
- kardiologické zobrazovací techniky MeSH
- kardiomyopatie * diagnostické zobrazování genetika vrozené MeSH
- lidé MeSH
- mladý dospělý MeSH
- mutace MeSH
- srdeční komory abnormality MeSH
- vrozené srdeční vady * diagnostické zobrazování genetika patofyziologie MeSH
- Check Tag
- lidé MeSH
- mladý dospělý MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- práce podpořená grantem MeSH
Saphenopopliteal junction classification has been developing, but still the precise knowledge of junction type is crucial for proper surgical treatment. We examined the saphenopopliteal junction by duplex venous scanning in 244 extremities in healthy volunteers (median age: 23.0 years, 83 females, 39 male) and performed a meta-analysis of 13 studies focusing on structural types of the junction. According to Schweighoffer's classification we distinguished 5 types of the junction and we subdivided type A according to Cavezzi's classification of gastrocnemial veins termination into two. We added type F (small saphenous vein-SSV terminates into popliteal vein-PV), described especially in cadaveric studies. In our study, the most frequent type was A1 (96 cases), followed by C (70), B (48), A2 (20), E (6), D (3) and F (0). The pooled prevalence estimate for types A + B + D + E was 54.7% (95% CI 40.9-69.6%) and for type C 24.4% (95% CI 19.3-29.5%), whereas in 17.1% (95% CI 6.3-27.9%) of cases, the SSV terminated in the PV with no cranial extension present. The knowledge of the saphenopopliteal junction and its variations prevalence can help clinicians to quickly identify the real type of the junction during routine examination. In mid-European population, the main type is A1 and worldwide type A.
- MeSH
- duplexní dopplerovská ultrasonografie MeSH
- lidé MeSH
- mladý dospělý MeSH
- prediktivní hodnota testů MeSH
- vena poplitea * diagnostické zobrazování MeSH
- vena saphena * diagnostické zobrazování MeSH
- Check Tag
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza MeSH
- přehledy MeSH
- systematický přehled MeSH
Infekční pseudoaneurysma aorty je rychle progredující onemocnění s vysokou mortalitou, pro něž je zásadní časná diagnostika a kombinovaná terapie. Symptomy jsou kombinací příznaků aortálního syndromu s elevací zánětlivých markerů. Základem terapie je několikatýdenní antibiotická terapie (ideálně cílená dle pozitivity hemokultur) v kombinaci s chirurgickou či endovaskulární terapií dle celkového stavu pacienta. Komplikací je ruptura pseudoaneurysmatu s fatálními následky, která je v závislosti na rychlosti progrese růstu pseudoaneurysmatu značným rizikem.
Infectious pseudoaneurysm of the aorta is a rapidly progressive disease with high mortality. Therefore, early diagnosis and combination therapy are crucial. The condition is manifested by signs of aortic syndrome and elevated inflammatory markers. The treatment consists of antibiotic therapy (based on blood cultures) in combination with surgical or endovascular approach according to the general condition of the patient. The main complication, depending on the rate of progression, is aortic wall rupture with fatal consequences.
- MeSH
- aneurysma hrudní aorty * diagnostické zobrazování etiologie komplikace patologie terapie MeSH
- aortitida * diagnostické zobrazování etiologie komplikace patologie terapie MeSH
- CT angiografie MeSH
- fatální výsledek MeSH
- lidé MeSH
- nepravé aneurysma diagnostické zobrazování etiologie komplikace patologie terapie MeSH
- pooperační komplikace MeSH
- senioři MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- Publikační typ
- kazuistiky MeSH
AIMS: Fabry disease (FD) is a multisystemic lysosomal storage disorder caused by a defect in the alpha-galactosidase A gene that manifests as a phenocopy of hypertrophic cardiomyopathy. We assessed the echocardiographic 3D left ventricular (LV) strain of patients with FD in relation to heart failure severity using natriuretic peptides, the presence of a cardiovascular magnetic resonance (CMR) late gadolinium enhancement scar, and long-term prognosis. METHODS AND RESULTS: 3D echocardiography was feasible in 75/99 patients with FD [aged 47 ± 14 years, 44% males, LV ejection fraction (EF) 65 ± 6% and 51% with hypertrophy or concentric remodelling of the LV]. Long-term prognosis (death, heart failure decompensation, or cardiovascular hospitalization) was assessed over a median follow-up of 3.1 years. A stronger correlation was observed for N-terminal pro-brain natriuretic peptide levels with 3D LV global longitudinal strain (GLS, r = -0.49, P < 0.0001) than with 3D LV global circumferential strain (GCS, r = -0.38, P < 0.001) or 3D LVEF (r = -0.25, P = 0.036). Individuals with posterolateral scar on CMR had lower posterolateral 3D circumferential strain (CS; P = 0.009). 3D LV-GLS was associated with long-term prognosis [adjusted hazard ratio 0.85 (confidence interval 0.75-0.95), P = 0.004], while 3D LV-GCS and 3D LVEF were not (P = 0.284 and P = 0.324). CONCLUSION: 3D LV-GLS is associated with both heart failure severity measured by natriuretic peptide levels and long-term prognosis. Decreased posterolateral 3D CS reflects typical posterolateral scarring in FD. Where feasible, 3D-strain echocardiography can be used for a comprehensive mechanical assessment of the LV in patients with FD.
- MeSH
- dysfunkce levé srdeční komory * diagnostické zobrazování etiologie MeSH
- echokardiografie trojrozměrná * metody MeSH
- echokardiografie metody MeSH
- Fabryho nemoc * komplikace diagnostické zobrazování MeSH
- funkce levé komory srdeční MeSH
- gadolinium MeSH
- jizva diagnostické zobrazování MeSH
- kontrastní látky MeSH
- lidé MeSH
- prognóza MeSH
- reprodukovatelnost výsledků MeSH
- srdeční selhání * diagnostické zobrazování etiologie MeSH
- tepový objem MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Reliable quantification of aortic regurgitation (AR) severity is essential for clinical management. We aimed to compare quantitative and indirect echo-Doppler indices to quantitative cardiac magnetic resonance (CMR) parameters in asymptomatic chronic severe AR. Methods and Results: We evaluated 104 consecutive patients using echocardiography and CMR. A comprehensive 2D, 3D, and Doppler echocardiography was performed. The CMR was used to quantify regurgitation fraction (RF) and volume (RV) using the phase-contrast velocity mapping technique. Concordant grading of AR severity with both techniques was observed in 77 (74%) patients. Correlation between RV and RF as assessed by echocardiography and CMR was relatively good (rs = 0.50 for RV, rs = 0.40 for RF, p < 0.0001). The best correlation between indirect echo-Doppler and CMR parameters was found for diastolic flow reversal (DFR) velocity in descending aorta (rs = 0.62 for RV, rs = 0.50 for RF, p < 0.0001) and 3D vena contracta area (VCA) (rs = 0.48 for RV, rs = 0.38 for RF, p < 0.0001). Using receiver operating characteristic analysis, the largest area under curve (AUC) to predict severe AR by CMR RV was observed for DFR velocity (AUC = 0.79). DFR velocity of 19.5 cm/s provided 78% sensitivity and 80% specificity. The AUC for 3D VCA to predict severe AR by CMR RV was 0.73, with optimal cut-off of 26 mm2 (sensitivity 80% and specificity 66%). Conclusions: Out of the indirect echo-Doppler indices of AR severity, DFR velocity in descending aorta and 3D vena contracta area showed the best correlation with CMR-derived RV and RF in patients with chronic severe AR.
- Publikační typ
- časopisecké články MeSH
