AIMS: In patients with recently diagnosed non-ischaemic LV systolic dysfunction, left ventricular reverse remodelling (LVRR) and favourable prognosis has been documented in studies with short-term follow-up. The aim of our study was to assess the long-term clinical course and stability of LVRR in these patients. METHODS AND RESULTS: We prospectively studied 133 patients (37 women; 55 [interquartile range 46, 61] years) with recently diagnosed unexplained LV systolic dysfunction, with heart failure symptoms lasting <6 months and LV ejection fraction <40% persisting after at least 1 week of therapy. All patients underwent endomyocardial biopsy (EMB) at the time of diagnosis and serial echocardiographic and clinical follow-up over 5 years. LVRR was defined as the combined presence of (1) LVEF ≥ 50% or increase in LVEF ≥ 10% points and (2) decrease in LV end-diastolic diameter index (LVEDDi) ≥ 10% or (3) LVEDDi ≤ 33 mm/m2. LVRR was observed in 46% patients at 1 year, in 60% at 2 years and 50% at 5 years. Additionally, 2% of patients underwent heart transplantation and 12% experienced heart failure hospitalization. During 5-year follow-up, 23 (17%) of the study cohort died. In multivariate analysis, independent predictors of mortality were baseline right atrial size (OR 1.097, CI 1.007-1.196), logBNP level (OR 2.02, CI 1.14-3.56), and PR interval (OR 1.02, CI 1.006-1.035) (P < 0.05 for all). The number of macrophages on EMB was associated with overall survival in univariate analysis only. LVRR at 1 year of follow-up was associated with a lower rate of mortality and heart failure hospitalization (P = 0.025). In multivariate analysis, independent predictors of LVRR were left ventricular end-diastolic volume index (OR 0.97, CI 0.946-0.988), LVEF (OR 0.89, CI 0.83-0.96), and diastolic blood pressure (OR 1.04, CI 1.01-1.08) (P < 0.05 for all). CONCLUSIONS: LVRR occurs in over half of patients with recent onset unexplained LV systolic dysfunction during first 2 years of optimally guided heart failure therapy and then remains relatively stable during 5-year follow-up. Normalization of adverse LV remodelling corresponds to a low rate of mortality and heart failure hospitalizations during long-term follow-up.
V posledních letech dochází k výraznému nárůstu diagnostikovaných případů nemocných s transthyretinovou amyloidózou (ATTR) srdce, v našich podmínkách se zcela dominantně jedná o získanou formu ATTR (wtATTR, z angl. wild-type ATTR). Je to dáno možností neinvazivní diagnostiky ATTR založené na kombinaci jasně pozitivního nálezu při scintigrafickém vyšetření bisfosfonáty značenými techneciem (nejčastěji DPD scintigrafie) a negativním výsledku laboratorních testů na AL amyloidózu. Ukazuje se, že wtATTR není vzácnou příčinou srdečního selhání či arytmií, a to zejména převodních poruch a fibrilace síní, u starších nemocných. Cílem tohoto článku je proto poskytnout přehled klinických manifestací, diagnostického procesu a možností terapie ATTR včetně její specifické léčby.
In recent years, there has been a significant increase in diagnosed cases of patients with transthyretin amyloidosis (ATTR) of the heart, predominantly with the acquired form of ATTR, also referred to as wild-type ATTR (wtATTR). This is due to the possibility of non-invasive diagnosis of ATTR based on the combination of a clearly positive finding of scintigraphic examination using technetium-labelled bisphosphonates (most often DPD scintigraphy) and a negative result of laboratory tests for AL amyloidosis. It turns out that wtATTR is not a rare cause of heart failure or arrhythmias, particularly of conduction disorders and atrial fibrillation, in elderly patients. The aim of this article is to provide an overview of the clinical manifestations, diagnostic process, and therapeutic options for ATTR, including its specific treatment..
- MeSH
- diferenciální diagnóza MeSH
- echokardiografie metody MeSH
- familiární amyloidové neuropatie * diagnóza farmakoterapie komplikace MeSH
- klinické laboratorní techniky MeSH
- klinický obraz nemoci MeSH
- lidé MeSH
- nemoci srdce diagnostické zobrazování diagnóza etiologie farmakoterapie MeSH
- prealbumin * fyziologie genetika MeSH
- radioisotopová scintigrafie metody MeSH
- Check Tag
- lidé MeSH
BACKGROUND: Sarcoidosis is a systemic inflammatory disease of unknown etiology, which can affect almost any organ. Cardiac involvement determines the prognosis of the affected individuals. Its prevalence in patients with extracardiac sarcoidosis with the absence of cardiac symptoms remains unclear. Cardiac magnetic resonance (CMR) provides excellent diagnostic accuracy in the detection of heart involvement by sarcoidosis. AIM: We sought to determine the prevalence of cardiac sarcoidosis in asymptomatic individuals with newly diagnosed extracardiac sarcoidosis using CMR. METHODS: We prospectively evaluated 55 consecutive patients including 23 women with newly diagnosed extracardiac sarcoidosis who underwent contrast-enhanced CMR and had no symptoms of heart disease. The mean (standard deviation) age of patients was 43 (11) years. The presence of myocardial late gadolinium enhancement (LGE) of non-ischemic etiology on CMR examination was considered diagnostic for cardiac sarcoidosis. RESULTS: In 3 (6%) patients, the LGE pattern consistent with cardiac sarcoidosis was detected. In all patients, preserved left ventricular systolic regional and global function was present, and in none of them, the elevation of blood biomarkers of myocardial injury or overload was found. CONCLUSIONS: Our study suggests that the prevalence of cardiac involvement in patients with newly diagnosed extracardiac sarcoidosis and no symptoms of heart disease is very low as assessed by CMR. However, CMR may be considered as part of routine evaluation of patients with extracardiac sarcoidosis due to its higher diagnostic yield in comparison with echocardiography and electrocardiography, respectively.
- MeSH
- dospělí MeSH
- gadolinium MeSH
- kardiomyopatie * diagnostické zobrazování MeSH
- kontrastní látky MeSH
- lidé MeSH
- magnetická rezonanční spektroskopie MeSH
- magnetická rezonanční tomografie MeSH
- nemoci srdce * MeSH
- sarkoidóza * diagnóza diagnostické zobrazování MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Fabry disease (FD) is an X-linked linked genetic disorder caused by α-galactosidase A deficiency. The typical clinical manifestation is left ventricular hypertrophy, often mimicking hypertrophic cardiomyopathy (HC). In contrast to sarcomeric HC, left ventricular outflow tract obstruction (LVOTO) is less frequent. We describe 6 male patients with genetically confirmed FD and symptomatic LVOTO. All of them underwent a transcatheter alcohol septal ablation with an immediate effect on the obstruction in all cases and without any serious complications. The median LVOT maximal pressure gradient was 85 (60 to 170) mm Hg. The hemodynamic effect persisted during subsequent follow-up (ranging from 6 months to 16 years). Five patients reported substantial symptomatic improvement. Four patients were receiving specific FD therapy before the interventional procedure. In conclusion, alcohol septal ablation appears to be effective in the treatment of LVOTO in patients with FD and appears to be comparable to the limited published experience with surgical septal myectomy. Despite some important differences between FD HC and sarcomeric HC, the recommendation for treating LVOTO should be similar.
- MeSH
- ablace metody MeSH
- dospělí MeSH
- echokardiografie MeSH
- elektrokardiografie MeSH
- ethanol terapeutické užití MeSH
- Fabryho nemoc komplikace farmakoterapie MeSH
- lidé středního věku MeSH
- lidé MeSH
- obstrukce výtoku ze srdeční komory diagnostické zobrazování etiologie terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Postižení srdce spojené s hypereozinofilií je řazeno mezi vzácná onemocnění a vzniká nejčastěji v souvislosti s hypersenzitivní, resp. alergickou reakcí, dále v důsledku infekce, nádorového onemocnění, vaskulitidy či v rámci tzv. hypereozinofilních syndromů. Obvykle jsou popisována 3 stadia srdečního postižení, kdy v úvodní fázi dochází k zánětlivému postižení myokardu, které může dále pokračovat stadiem trombotickým a nakonec může dojít k progresi až do posledního ireverzibilního stadia fibrotického označovaného jako endomyokardiální fibróza, jež představuje jednu ze získaných forem restriktivní kardiomyopatie. U většiny nemocných nacházíme v diferenciálním rozpočtu leukocytů zvýšenou hladinu eozinofilů, nicméně ve zcela iniciálních fázích onemocnění nemusí být tato přítomna. Ze zobrazovacích metod je využívána kromě echokardiografie též magnetická rezonance a vyšetření pozitronovou emisní tomografií kombinované s CT. Endomyokardiální biopsie může být indikována k definitivnímu průkazu eozinofilní myokarditidy.
Cardiac abnormalities associated with hypereosinophilia represent rare diseases and occurs most commonly due to hypersensitivity or allergic reactions, other possible etiologies cover infections, malignancy, vasculitis or hypereosinophilic syndromes. Three stages of cardiac involvement are usually described. Initially, myocardial inflammation occurs, that can continue with a thrombotic stage and eventually progress to the last irreversible stage called endomyocardial fibrosis, which represents one of the acquired forms of restrictive cardiomyopathy. In most patients, increased levels of eosinophils in the blood differential test; however, it may not be present in the initial stages of the disease. Of the imaging methods, magnetic resonance imaging and positron emission tomography combined with CT PET-CT are used in addition to echocardiography. Endomyocardial biopsy may be indicated for definitive evidence of eosinophilic myocarditis. The clarification of the cause of hypereosinophilia is necessary for specific treatment of this disorder.
- Klíčová slova
- eozinofilní myokarditida,
- MeSH
- endomyokardiální fibróza diagnóza MeSH
- hypereozinofilní syndrom * diagnóza terapie MeSH
- lidé MeSH
- restriktivní kardiomyopatie diagnóza MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
Souhrn: Anderson-Fabryho choroba (AFD – Anderson-Fabry disease) je dědičné, na X-chromozom vázané onemocnění, jehož podkladem je mutace genu kódujícího enzym -galaktosidázu A (-Gal A). Nulová anebo nízká enzymová aktivita -Gal A vede ke kumulaci glykosfingolipidů v lyzozomech a následné dysfunkci na orgánové úrovni. Pacienti s AFD mají kombinaci postižení ledvin, srdce, cév, neurologických obtíží a dále projevů postižení trávicího traktu a kůže. Správná diagnostika AFD umožní zahájit časnou specifickou terapii, která může onemocnění zastavit anebo alespoň výrazně zpomalit.
Summary: Anderson-Fabry disease (AFD) is a relatively rare X-linked hereditary storage disorder, caused by mutation of the gene for α-galaktosidase A (α-Gal A). Low or even zero level activity of the enzyme α-Gal A caused accumulation of glycosphingolipids in lysosomes. This lysosomal storage causes cell dysfunction and subsequent organ malfunction. AFD patients suff er from renal, cardiac, vessel and neurological symptoms, last but not least from skin and gastrointestinal involvement. Enzyme replacement therapy has been shown eff ective, with earlier diagnosis resulting in better outcomes in patients with AFD.
Hypocalcaemic cardiomyopathy is a rare form of dilated cardiomyopathy. The authors here present two cases in which symptomatic dilated cardiomyopathy was the result of severe hypocalcaemia. First, we report about a 26-year-old woman with primary hypoparathyroidism and then about a 74-year-old man with secondary hypoparathyroidism following a thyroidectomy. In both cases, the left ventricular systolic function improved after calcium supplementation. In the first case, a lack of compliance led to a repeated decrease of both serum calcium level and left ventricular systolic function. The authors also present a comprehensive summary of all cases of hypocalcaemic dilated cardiomyopathy that have been described in literature to date. The mean age of the affected patients was 48.3 years, of which 62% were female patients. The most common causes of hypocalcaemic cardiomyopathy are primary hypoparathyroidism (50%) and post-thyroidectomy hypoparathyroidism (26%). In the post-thyroidectomy subgroup, the median time for the development of hypocalcaemic cardiomyopathy is 10 years (range: 1.5 months to 36 years). Hypocalcaemic cardiomyopathy leads to heart failure with reduced ejection fraction in 87% of patients. Generally, the most common complications of hypoparathyroidism and/or hypocalcaemia are cerebral calcifications, cognitive deficit, and cataracts. Once calcium supplementation is administered, the disease has a good prognosis and, in most individuals, a significant improvement (21%) or even normalization (74%) of the left ventricular systolic function occurs.
- MeSH
- dilatační kardiomyopatie * diagnóza etiologie MeSH
- dospělí MeSH
- hypokalcemie * diagnóza etiologie MeSH
- hypoparatyreóza * komplikace diagnóza MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
- tyreoidektomie MeSH
- vápník MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- přehledy MeSH
- MeSH
- Fabryho nemoc * diagnóza prevence a kontrola MeSH
- lidé středního věku MeSH
- lidé MeSH
- metabolické nemoci diagnóza prevence a kontrola MeSH
- multiorgánové selhání etiologie MeSH
- nemoci ledvin diagnóza prevence a kontrola MeSH
- nemoci srdce diagnóza komplikace prevence a kontrola MeSH
- srdeční arytmie diagnóza komplikace MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
