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Amaç: Bu çalýþmada, evre 3-4 kronik böbrek hastalýðý (KBH) olanlarda N-terminal pro-beyin natriüretik peptid (NT-proBNP) düzeyleri ile mortalite arasýndaki iliþkiyi araþtýrmayý amaçladýk.
Yöntemler: Çalýþma “Türkiye’deki kalp yetersizliði prevalansý ve öngördürücüleri (HAPPY)” çalýþmasýnýn alt grup analizi olarak planlandý. HAPPY çalýþmasýnda Türkiye’nin 7 coðrafi bölgesinden rastgele seçilen 35 yaþ üstü 4650 hasta alýndý. Bu çalýþmaya ise tahmini glomerüler filtrasyon hýzý (eGFR) 60 ml dk -1/1.73 m2 altýnda olan 191 hasta dahil edildi. NT-proBNP ile mortalite arasýndaki iliþki araþtýrýldý. Ayrýca Cox regresyon analizi kullanýlarak toplam ve kardiyovasküler mortalite için prognostik deðiþkenler saptandý.
Bulgular: Ortalama takip süresi 76.12±22.45 aydý. Ortalama NT-proBNP düzeyi 423.54± 955.88 pg/mL idi. Takipte 51 katýlýmcý (%26.7) herhangi bir nedene baðlý ve 36 katýlýmcý (%18.8) kardiyovasküler nedene baðlý hayatýný kaybetti. Hipertansiyon [Tehlike oraný (HR): 1.89; %95 güven aralýðý (GA) 1.01–3.50; p=0.048], anemi (HR: 2.49; %95 GA 1.20–5,15; p=0.014), erkek cinsiyet (HR: 2.64 %95 GA 1.44–4,86; p=0.002 ve log NT-proBNP düzeyi (HR: 4.93; %95 GA 2.83–8.58; p<0.001) toplam mortalite için baðýmsýz öngördürücülerdi. Hipertansiyon (HR: 2.47; %95 GA 1.09–5.56; p=0.029), erkek cinsiyet (HR: 2.79; %95 GA 1.38–5,62; p=0.004, eGFR (HR: 0.94; %95 GA 0.91–0.98; p=0.005) ve log NT-proBNP düzeyi (HR: 6.31; %95 GA 3.11–12.81; p<0.001) ise kardiyovasküler mortalite için baðýmsýz öngördürücülerdi.
Sonuç: Bu çalýþmada evre 3–4 KBH hastalarýnda NT-proBNP’nin güçlü baðýmsýz bir prognostik belirteç olduðu gösterilmiþtir.

Objective: This was an investigation of the relationship between the N-terminal pro-brain natriuretic peptide (NT-proBNP) level and mortality in patients with stage 3-4 chronic kidney disease (CKD).
Methods: This study was designed as a subgroup analysis of the Heart Failure Prevalence and Predictors in Turkey (HAPPY) study. The HAPPY study included 4650 randomly selected individuals from the 7 geographical regions of Turkey. A total of 191 subjects from the original cohort with an estimated glomerular filtration rate (eGFR) <60 mL/min/1.1.73 m² were enrolled in this study and the relationship between NT-proBNP and mortality was investigated. Prognostic variables for total and cardiovascular mortality were also examined using Cox regression analysis.
Results: The mean length of follow-up was 76.12±22.45 months. The mean NT-proBNP level was 423.54±955.88 pg/mL. During follow-up, 51 subjects (26.7%) died from any cause and 36 subjects (18.8%) died from a cardiovascular cause. The presence of hypertension (hazard ratio [HR]: 1.89; 95% confidence interval [CI]: 1.01–3.50; p=0.048), anemia (HR: 2.49; 95% CI: 1.20–5.15; p=0.014), male gender (HR: 2.64; 95% CI: 1.44–4.86; p=0.002) and log NT-proBNP (HR: 4.93; 95% CI: 2.83-8.58; p<0.001) were independent variables for total mortality. The presence of hypertension (HR: 2.47; 95% CI: 1.09–5.56; p=0.029), male gender (HR: 2.79; 95% CI: 1.38–5.62; p=0.004), eGFR (HR: 0.94; 95% CI: 0.91–0.98; p=0.005) and log NT-proBNP (HR: 6.31; 95% CI: 3.11–12.81; p<0.001) were independent predictors of cardiovascular mortality.
Conclusion: NT-proBNP was found to be an independent prognostic marker in patients with stage 3–4 CKD.

Abstract | English Full Text

Amaç: Koroner arter hastalýðýna (KAH) yol açan genetik risk faktörleri toplumlar arasýnda farklýlýklar göstermektedir. Aterosklerotik KAH oluþumuna neden olan genetik faktörlerin belirlenmesi amacýyla yapýlan bu çalýþmada, APOA5 aday genindeki bir tek nükleotid polimorfizminin (SNP) KAH ve KAH risk faktörleri üzerindeki etkisi araþtýrýldý.
Yöntemler: Anjina veya akut miyokart enfarktüsü nedeniyle koroner anjiyografi yapýlan 448 birey normal koroner arter (koroner lezyon ≤%30 darlýk) ve anlamlý KAH (≥1 koroner lezyon ≥%50 darlýk) taþýmalarýna göre iki gruba ayrýldý. Gensini ve SYNTAX skorlarý ile KAH’ýn ciddiyeti ve yaygýnlýðý deðerlendirildi. Bireyler APOA5 −1131T>C polimorfizmi için hidroliz problarý kullanýlarak genotiplendi ve sonuçlar incelendi.
Bulgular: Çalýþmamýzda, anlamlý KAH olmayan grupta, seçilen APOA5 gen varyantý serum lipit düzeyleri ile iliþkili bulundu (p<0.05). Ayrýca, APOA5 gen polimorfizminin incelenen klinik durum ve diðer parametreler üzerine olan etkisinin cinsiyete baðlý olarak deðiþkenlik gösterdiði belirlendi. APOA5 genindeki bu polimorfizm ve tip 2 diabetes mellitus arasýnda sýnýrda bir iliþki saptandý (p=0.055). Bu polimorfizmle obezitenin iliþkili olduðu ve APOA5 −1131C allelini taþýyanlarda obezite riskinin azaldýðý saptandý (p<0.05). Lojistik regresyon analizinde yaþ ve cinsiyete göre ayarlama yapýldýðýnda, nadir allel taþýyýcýlýðýnýn tüm grupta obeziteye karþý koruyucu etkiye sahip olduðu gözlendi (odds oraný: 0.48, %95 güven aralýðý: 0.29–0.78, p=0.003).
Sonuç: Çalýþmamýzda, aterosklerotik KAH geliþimine yol açabilecek önemli genetik faktörlerden biri olarak gösterilen APOA5 gen polimorfizminin çalýþma grubunda obezite ile iliþkisi saptanmýþtýr. APOA5 −1131T>C polimorfizmi obezite ve lipit düzeyleri gibi KAH’ýn önemli risk faktörleri ile iliþkilendirilmiþtir.

Objective: Genetic risk factors that cause coronary artery disease (CAD) demonstrate variations in different populations. In this study, a single nucleotide polymorphism in the APOA5 gene was targeted to determine genetic contributors to atherosclerotic CAD. The effects of this polymorphism on the development of CAD and known risk factors of the disease were examined.
Methods: A total of 448 patients with angina or acute myocardial infarction who underwent coronary angiography were grouped as individuals with normal coronary arteries (≤30% stenosis) and critical disease (≥50% stenosis). The angiographic severity and the extent of atherosclerotic CAD were assessed using the Gensini and SYNTAX scores. Individuals were genotyped for the APOA5−1131T>C polymorphism using hydrolysis probes and the results were evaluated.
Results: The APOA5−1131T>C polymorphism was associated with the serum lipid levels in the non-CAD group (p<0.05). In addition, the effect of APOA5 gene polymorphism on clinical status and other parameters was determined to vary depending on gender. A borderline association was found between APOA5 −1131T>C and type 2 diabetes mellitus (p=0.055). This polymorphism was found to be associated with obesity and it was observed that the APOA5 -1131C allele carriers had a reduced risk for obesity (p<0.05). Logistic regression analysis adjusted for age and gender indicated that APOA5 -1131C allele carriage had a protective effect against obesity in the study group (odds ratio: 0.48, 95% confidence interval: 0.29-0.78; p=0.003).
Conclusion: In this study, the APOA5 gene polymorphism, one of the genetic factors that may lead to atherosclerotic CAD, was found to be associated with obesity. The APOA5 −1131T>C polymorphism was associated with important risk factors for CAD, obesity and serum lipid levels.

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Objective: The aim of the present study was to examine the association between 2 polymorphisms of the endothelial nitric oxide (eNOS) gene (-786T>C and +894G>T) and the no-reflow/slow-flow phenomenon in post-primary percutaneous coronary intervention (PPCI) patients.
Methods: A total of 103 post-PPCI patients were enrolled. Coronary no-reflow phenomenon was defined as a Thrombolysis in Myocardial Infarction (TIMI) flow grade 0–1 and coronary slow-flow phenomenon (CSFP) was defined as a TIMI flow grade ≤2.
Results: Due to the small number of post-PPCI patients with the no-reflow phenomenon (n=4), the primary comparison was made between CSFP (n=20) and normal flow (n=83) groups. There was a greater frequency of CSFP among carriers of the –786C allele of the eNOS –786T>C polymorphism (odds ratio [OR]: 3.90; 95% confidence interval [CI]: 0.87–17.45; p=0.07). However, no such association was detected between the +894T allele of the eNOS +894G>T and CSFP (OR: 0.92; 95% CI: 0.21–3.98; p=0.91). In the adjusted analysis, the -786T>C polymorphism did not reach statistical significance.
Conclusion: There was no significant association between CSFP and 2 of the most common polymorphisms of the eNOS gene in post-PPCI patients.

Abstract | English Full Text

Amaç: Periferik arter hastalýðý (PAD), ateroskleroz nedeniyle ekstremite arterlerinin daralmasýndan kaynaklanan bir durumdur. Geçtiðimiz yýllarda, birkaç gende polimorfizmin PAD geliþme riskine katkýda bulunduðu gösterilmiþtir, ancak geleneksel kardiyovasküler risk faktörlerinden baðýmsýz olan bu kalýtýmsal faktörlerin katkýsý hala belirsizliðini korumaktadýr. Bu çalýþmada, diabetes mellitus (DM) ve genetik arkaplanýn PAD patogenezinde sadece ve birlikte etkilerini araþtýrdýk.
Yöntemler: Çalýþmamýzda faktör V Leiden (G1691A), Faktör V H1299R, Protrombin G20210A, Faktör XIII V34L, B-Fibrinojen-455 G> A, PAI-1 4G/5G, HPA1, MTHFR C677T, MTHFR A1298C, ACE I/D, APO B R3500Q ve APOE polimorfizminin kardiyovasküler hastalýk Strip panel kullanýlarak etkilerini deðerlendirmeyi planladýk. Hastalar iki gruba ayrýldý: PAD’lý 100 hasta (50 DM+, 50 DM-), PAD olmayan 60 kontrol hasta (30 DM+, 30 DM-).
Bulgular: MTHFR A1298C ve PAI 4G/5G homozigot polimorfizmi, PAD hastalarýnda kontrol grubuna göre anlamlý derecede yüksek bulundu (sýrasýyla, p=0.035, p=0.004). Diðer genotipler ve polimorfizm sýklýklarý arasýnda anlamlý bir iliþki bulunamamýþtýr. Ayrýca DM varlýðýnda PAI 4G/5G homozigot polimorfizmi PAD oluþumunu etkili olduðu belirlendi (p=0.021). Regresyon analizinde PAD oluþumunda DM+ hastalarda PAI-1 4G/5G gen homozigot polimorfizmi 17.1 kat daha riskli, (p=0.008) Güven Aralýðý (GA) %95 (2.113–138.660), MTHFR A1298C homozigos polimorfizmi 316.6 kat daha riskli (p<0.001) GA %95 (10.763–9315.342) olduðu görüldü.
Sonuç: MTHFR A1298C ve PAI 4G/5G homozigoz polimorfizmi, PAD oluþumu ile iliþkili olabilir. PAÝ 4G/5G homozigot polimorfizmi, DM varlýðýnda PAD oluþumunda güçlü bir belirleyicidir.

Objective: Peripheral artery disease (PAD) is a condition caused by the narrowing of limb arteries due to atherosclerosis. In recent years, polymorphisms in a number of genes have been shown to contribute to the risk of PAD development. However, whether the contribution of these inheritable factors is independent of traditional cardiovascular risk factors remains unclear. This study was an investigation of the effects of diabetes mellitus (DM) and genetic background, examined singly and together, on the pathogenesis of PAD.
Methods: The effects of the factor V Leiden (G1691A), factor V H1299R, prothrombin G20210A, factor XIII V34L, B-fibrinogen -455 G>A, PAI-1 4G/5G, HPA1, MTHFR C677T, MTHFR A1298C, ACE I/D, APO B R3500Q, and APOE polymorphisms were evaluated using a cardiovascular disease strip assay (CVD StripAssay). Two groups were created: 100 patients with PAD (50 with DM, 50 without DM) and 60 controls without PAD (30 with DM, 30 without DM).
Results: There was a significantly greater presence of the MTHFR A1298C and PAI 4G/5G homozygous polymorphisms in the PAD patients compared with the control group (p=0.035, p=0.004, respectively). There were no significant associations between the other genotypes and polymorphism frequencies. In the presence of DM, the PAI-1 4G/5G homozygous polymorphism was linked to the formation of PAD (p=0.021). Regression analysis indicated that the PAI-1 4G/5G gene homozygous polymorphism demonstrated a 17.1 times greater risk for DM with PAD [95% confidence interval (CI): 2.113-138.660; p=0.008] and the MTHFR A1298C homozygous polymorphism demonstrated a 316.6 times greater risk (95% CI: 10.763-9315.342; p<0.001) for the possibility of DM with PAD.
Conclusion: The MTHFR A1298C and PAI 4G/5G homozygous polymorphisms may be associated with the development of PAD. The presence of the PAI 4G/5G homozygous polymorphism with DM was a powerful predictor for the development of PAD.

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Amaç: Stres koroner ateroskleroz ve kardiyovasküler sonlanýmlar için önemli bir risk faktörüdür. Fakat, stres ile iliþkili koroner aterosklerotik yük daha önce araþtýrýlmamýþtýr. Bu çalýþmada, ST segment yükselmeli miyokart enfarktüsü (STYME) hastalarýnda algýlanmýþ stres skalasý (ASS) ile SYNTAX skorlarýnýn iliþkisini araþtýrmayý amaçladýk.
Yöntemler: Bu çalýþmaya, STYME geçiren 440 hasta ileriye dönük olarak dahil edildi. ROC analizine göre belirlenen 17.5 eþik deðerine göre ASS puaný düþük olan 361 hasta Grup 1’i, ASS puaný yüksek olan 79 hasta ise Grup 2’yi oluþturdu.
Bulgular: SYNTAX skoru [16.0 (10.0–22.5); 22.5 (15.0–25.5), p<0.001] ve SYNTAX skoru II [24.8 (19.0–32.6); 30.9 (22.3–38.9), p<0.001] grup 2 hastalarda anlamlý derecede yüksekti. Spearman analizinde ASS deðeri SYNTAX skoru (r=0.153, p=0.001) ve SYNTAX skoru II (r=0.216, p<0.001) ile iliþkili saptandý. Ayrýca orta-yüksek SYNTAX skoru için ASS (Odds oraný: 2.434, Güven Aralýðý: 1.446–4.096, p=0.001) baðýmsýz ön gördürücü olarak bulundu. Hastane içi mortalite geliþen grupta ise ASS skoru geliþmeyenlere göre daha yüksek saptandý [sýrasýyla, 15 (10–20); 9 (4–16), p=0.007].
Sonuç: Stres, koroner aterosklerotik süreci ve yaygýnlýðý hýzlandýrýyor görünmektedir. Ayrýca, artmýþ stres seviyesi de yüksek SYNTAX skorunun baðýmsýz öngördürücüsü olarak bulunmuþtur.

Objective: Stress is known to be a significant risk factor for coronary atherosclerosis and adverse cardiovascular events; however, the stress-related coronary atherosclerotic burden has not yet been investigated. The aim of this study was to investigate the relationship between the Perceived Stress Scale (PSS) and the SYNTAX scores in patients with ST-segment elevation myocardial infarction (STEMI).
Methods: A total of 440 patients with STEMI were prospectively enrolled and divided into 2 groups according to the PSS score with a ROC curve analysis cut-off value of 17.5. In all, 361 patients with a low PSS score were categorized as Group 1 and 79 patients with a high PSS score were categorized as Group 2.
Results: The SYNTAX score [Group 1, 16.0 (10.0–22.5); Group 2, 22.5 (15.0–25.5); p<0.001] and the SYNTAX score II were significantly higher in Group 2 [Group 1, 24.8 (19.0–32.6); Group 2, 30.9 (22.3–38.9); p<0.001]. Spearman analysis demonstrated that the PSS score was associated with the SYNTAX score (r=0.153; p=0.001) and the SYNTAX score II (r=0.216; p<0.001). Additionally, the PSS (odds ratio: 2.434, confidence interval: 1.446-4.096; p=0.001) was determined to be an independent predictor of a moderate-to-high SYNTAX score. The PSS score of patients with in-hospital mortality was also higher than those who survived [15 (10–20); 9 (4–16), respectively; p=0.007].
Conclusion: Stress appears to accelerate the coronary atherosclerotic process and the associated burden. An increased stress level was found to be an independent predictor of a high SYNTAX score.

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Amaç: Düþük kardiyak debi sendromu (DKDS) tanýmlanmasý ve bu hasta grubunun takibi ile ilgili net bir fikir birliði bulunmamaktadýr. Bu klinik tanýmlama eksikliðinden yola çýkarak, hastalarýn izleminde daha önce literatüre sunulmuþ olan düþük kardiyak debi skoruna benzer bir DKDS skoru (DKDSs) kullandýk ve yüksek DKDSs ile kötü klinik seyir ile iliþkisini deðerlendirmeyi amaçladýk.
Yöntemler: Kardiyak cerrahi uygulanmýþ 54 hasta postoperatif dönemde ileriye dönük olarak incelendi. Düþük kardiyak debi geliþimini deðerlendirmek için DKDSs kullanýldý. Her parametre 1 puan olacak þekilde skorlama yapýldý. DKDS skoru postoperatif 24 saat boyunca saatlik hesaplandý ve en yüksek skor tepe skoru (tDKDSs) olarak kaydedildi. Çocuk yoðun bakým ünitesine baþvuru anýnda, 4., 8. ve 16. saatteki DKDSs kaydedildi ve skorlarýn toplamýndan oluþan bir kümülatif skor (kDKDSs) hesaplandý.
Bulgular: Ortalama yaþ 49.40±53.15 ay, DKDS oraný %24.07 idi. DKDS geliþen grupta kDKDSs, tDKDSs, vazoaktif inotropik skor (VÝSt), laktat ortalamasý, aort klemp ve total kardiyopulmoner baypas süreleri anlamlý olarak yüksekti. Çalýþmamýzda, kDKDSs ve tDKDSs ile hastane yatýþ süresi, çocuk yoðun bakýmda yatýþ süresi, VÝSt, laktat ortalamasý, aort klemp süresi arasýnda anlamlý ve pozitif korelasyon saptandý.
Sonuç: Amacýmýz hastada kötü perfüzyonu gösteren parametreleri içeren ve daha önce tanýmlanmýþ olan bir skorlama ile kardiyak cerrahi geçiren kritik çocuk hasta bakýmýnda ortak bir dil kullanýmýna dikkat çekmekti. Geniþ hasta gruplarý ile yapýlacak bir çalýþmanýn ülkemizde postoperatif kardiyak cerrahi hastalarýnda kullanýlabilecek bir skor geliþimi için önemli olacaðýný düþünmekteyiz.

Objective: There is no clear consensus regarding the definition of low cardiac output syndrome (LCOS) or the follow-up of this patient group. Given this lack of a clinical definition, the aim of this study was to use a LCOS score (LCOSs) similar to the low cardiac output score previously presented in the literature and evaluate the relationship between a high LCOSs and poor clinical outcome.
Methods: A total of 54 patients were prospectively evaluated after cardiac surgery. The LCOSs was used to evaluate the deve-lopment of low cardiac output. Each parameter was scored as 1 point. The score was calculated every hour for 24 hours postoperatively and the highest score was recorded as the peak score (pLOCSs). The LOCSs at the time of admission to the pediatric intensive care unit, at the 4th, 8th, and 16th hour were recorded and a cumulative score (cLOCSs) score was calculated.
Results: The mean age of the patients was 49.40±53.15 months and 24.07% had LOCS. In the group with LCOS, the cLOCSs, vasoactive-ýnotropic score (VIS), lactate mean, aortic clamp time, and the total cardiopulmonary bypass time were significantly higher. In this study, a significant and positive correlation was found between the cLOCSs and pLOCSs and the length of hospital stay, length of stay in the pediatric intensive care unit, VIS, lactate mean, and aortic clamp duration.
Conclusion: The objective of this study was to draw attention to the potential use of a common language in the care of critical pediatric patients undergoing cardiac surgery with a previously defined scoring method that includes parameters indicating poor perfusion in the patient.

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Kardiyak amiloidoz (KA), ilerleyici infiltratif bir kardiyomiyopatidir. Katlanmasý bozulan endojen proteinlerin amiloid fibriller þeklinde kalpte ve bazen beraberinde böbrek ve karaciðerde birikimi ile ortaya çýkar. En sýk gözlenen KA formlarý, transtiretin (TTR) ve immünglobulin hafif zincir (AL) amiloidozudur. KA bugüne kadar nadir görülen bir hastalýk olarak düþünülmüþtür. Ancak yeni veriler korunmuþ ejeksiyon fraksiyonlu kalp yetersizliði olgularýnýn %13 ve yüksek riske sahip ciddi aort darlýðý bulunan yaþlý olgularýn %16’sýnda TTR-KA bulunduðunu göstermektedir. TTR-KA olgularý kötü prognoza sahiptir. Bu hastalarýn ortalama sað kalým süresi 2–4 yýl olarak bildirilmektedir. Erken taný ve tedavi yaklaþýmlarý ile prognozun anlamlý düzeltilebildiði gösterilmiþtir. Kemik ajanlarý ile yapýlan sintigrafi, TTR-KA tanýsýnda oldukça güvenilir ve uygulamasý kolay bir yöntem olarak gösterilmektedir. Bu belgede, TTR-KA tanýsal sürecinde kemik ajanlarý ile yapýlan sintigrafinin rolü ve uygulama protokolleri gözden geçirilmiþtir.

Cardiac amyloidosis (CA) is a progressive infiltrative cardiomyopathy. Amyloid fibrils in the form of misfolded endogenous proteins accumulate in the heart, as well as the kidneys, liver, and gastrointestinal tract. The most common forms of CA are transthyretin (TTR) and immunoglobulin light chain amyloidosis (AL). CA has long been thought to be a rare disease. However, recent reports have suggested that 13% of heart failure patients with a preserved ejection fraction and 16% of advanced-age patients with severe aortic stenosis have TTR-CA. Patients with TTR-CA have a poor prognosis, with a median survival of 2–4 years; however, early diagnosis and novel therapeutic options have been shown to significantly improve the prognosis. Scintigraphy using bone isotopes is considered a highly reliable and easy-to-use method in the diagnosis of TTR-CA. This is a review of the role of scintigraphic imaging with technetium-99m- labeled bisphosphonates in the diagnostic work-up process of TTR-CA and the applicable protocols.

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Homozigot Ailevi hiperkolesterolemi (HoAH), erken kardiyovasküler hastalýða yol açan nadir, otozomal dominant bir hastalýktýr. Monozigotik ikizler intrauterin çevreyi, yaþý ve tüm genlerini ortak paylaþtýklarýndan, AH’nin nedenlerini ve doðal seyrini araþtýrmak için çok özel bir kaynaðý temsil edebilirler. Bu yazýda AH ve yüksek lipoprotein a (Lpa) düzeylerine baðlý olarak hemen hemen ayný erken koroner arter tutulumu olan 36 yaþýnda monozigotik ikiz kardeþleri literatür derlemesi ile birlikte sunuyoruz. Dizi analizi ile ikizlerin LDLR c.1060+10G>A (rs12710260) mutasyonu için homozigot ve LDLR c.542C>T (rs557344672) mutasyonlarý için heterozigot olduðu gösterilmiþtir. Her ikisi de LDLR genindeki c.1060+7T>C (rs2738442), c.1586+53A>G (rs1569372) mutasyonlarý ve APOB genindeki c.4265A>T (rs568413) mutasyonlarý için homozigottur. Literatürde AH için bildirilen toplam 7 ikiz vaka vardýr ve hiç birinde yüksek Lpa düzeyleri bildirilmemiþtir. HoAH olan ikizler, beklenenden daha düþük LDL seviyelerine sahipti (tedavi öncesi 204 ve 223 mg/dL) ve neredeyse ayný koroner tutulumu izlendi. Her ikisi de yüksek Lpa seviyeleri (308 ve 272 nmol/L) ve çok düþük koroner kalsiyum skoru (16 AU) na sahipti ve de statinlere iyi yanýt (>%60) verdiler. Ayrýca, ilk kardiyovasküler olaylarý ailede neredeyse ayný yaþlarda (yani 32–34 yaþlarýnda) meydana gelmiþti. Bu, kardiyovasküler olay geliþimi eþiðini aþan kümülatif LDL maruziyetinin benzer zamanlamasý nedeniyle AH ailelerinin önemli bir özelliði olabilir. Sonuç olarak, yüksek Lpa seviyeleri ve hemen hemen ayný erken koroner arter tutulumu olan monozigotik HoAH ikizler, ömür boyu kolesterol yükü / maruziyeti hipotezine doðrulayacý bir kanýt sayýlabilir.

Homozygous familial hypercholesterolemia (HoFH) is a rare, autosomal dominant disease that leads to premature cardiovascular disease (CVD). Since monozygotic twins share the intrauterine environment and have the same age and gene profile, they could represent a very special resource for the investigation of the causes and the natural course of FH. This report is a description of 36-year-old monozygotic twin brothers with almost identical early coronary artery involvement due to FH concomitant with high lipoprotein(a) (Lpa) levels and a review of the literature. Sequence analysis revealed that the twins were homozygous for the LDLR c.1060+10G>A (rs12710260) mutation and heterozygous for the LDLR c.542C>T (rs557344672) mutations. Both were also homozygous for the c.1060+7T>C (rs2738442) and c.1586+53A>G (rs1569372) mutations in the LDLR gene as well as c.4265A>T (rs568413) mutations in the APOB gene. In the literature, there are 7 twin cases with reported FH, but none with high Lpa levels. The HoFH twins in this case report had lower low-density lipoprotein (LDL) cholesterol levels than expected (before treatment 204 and 223 mg/dL), with almost identical coronary involvement. Both had an extremely high Lpa level (308 and 272 nmol/L) with a very low coronary calcium score (16 AU) and a good response to statins (>60%). There was a history of the first CVD event occurring at nearly the same age (32–34 years) in the family. This could be an important aspect of FH families as a result of the similar timing of cumulative LDL exposure exceeding the threshold of CVD events. In conclusion, this first report of monozygotic HoFH twins with elevated Lpa levels and almost identical early coronary artery involvement at the same age provides evidence to substantiate the hypothesis of lifetime cholesterol burden/exposure.

Abstract | English Full Text

Protez kapak trombozu (PKT) hayati tehlike arz eden bir kapak iþlev bozukluðudur. Semptomsuz olgularda ve PKT’li bazý semptomlu hastalarda, birinci basamak görüntüleme aracý olan transtorasik ekokardiyografi, uygun tedavi seçeneðini seçmek için zorunlu olan trombüs gösterimi açýsýndan yetersiz kalabilir. Bu nedenle, klinik prezentasyona dayalý ayýrýcý taný zordur ve ekokardiyografi, sine floroskopi ve multimodalite görüntüleme, ekokardiyografi, sine floroskopi ve kardiyak bilgisayarlý tomografi dahil olmak üzere genellikle PKT ile pannus, vejetasyon ve hasta-protez uyumsuzluðu gibi protezle ilgili patolojiler arasýndaki ayrým için gereklidir.

Prosthetic valve thrombosis (PVT) is a life-threatening valve dysfunction. In asymptomatic cases, as well as certain symptomatic patients with PVT, the results of the first-line imaging tool, transthoracic echocardiography, may be inconclusive in terms of illustrating the thrombus, which is necessary in order to select the proper treatment option. Hence, a differential diagnosis based on clinical presentation may be challenging, and multimodality imaging, including echocardiography, cine fluoroscopy, and cardiac computed tomography, is usually required to distinguish between PVT and other prosthesis-related pathologies, such as pannus, vegetation, and prosthesis-patient mismatch.

Abstract | English Full Text

Bir yýl önce, sol ventrikül destek cihazý (SVDC) implantasyon öyküsü olan 58 yaþýnda erkek hasta istirahat dispnesi ile baþvurdu. Hastanýn baþvuru sýrasýnda orta-ileri derecede aort yetersizliði (AY), pre-postkapiller pulmoner hipertansiyonu subklinik orta derece sað ventriküler yetersizliði ve azalmýþ kardiyak debisi mevcuttu. AY tedavisi için transkatater aort kapak implantasyonu (TAVI) planlandý ve hastaya ‘self-expandable’ aort kapak takýldý. Hastada dakikalar içersinde hipotansiyon, sað ventrikül ve inferiyor vena kavada dilatasyon, sol atriyum ve sol ventrikülde kollaps geliþti ve SCDC hýzý azaltýlmasýna raðmen devam etti. SVDC hýzýnýn düþürülmesine raðmen kalp boþluklarýnýn boyutlarýnda herhangi bir deðiþiklik görülmedi. Hastada ciddi sað ventrikül yetersizliðinin geliþtiðine karar verilerek veno-arteriyal EKMO tedavisi uygulandý. VA-EKMO’dan sonra sað ventrikül boyutlarý azaldý, sol atriyum ve sol ventrikül boyutlarýnda ve SVDC akýmýnda artýþ izlendi. Hasta sað ventrikül yetersizliðinin devam etmesi nedeni ile EKMO’dan ayrýlmadý ve iþlemin 5. gününde hayatýný kaybetti. Bu hastada, þiddetli AY’nin TAVI ile tedavisinden sonra aortadan sol ventriküle geri akýmýnýn azalmasýnýn, kardiyak debi ve sað ventrikül ön yükünde akut artýþa ve sað ventrikül ön yükündeki akut artýþýn da akut ciddi sað kalp yetmezliðine neden olduðunu düþündük. Hastada orta derece sað yetersizlik olsa bile, TAVI’den önce, sað ventrikülü akut ön yük artýþýný tolere edebilecek þekilde medikal olarak hazýrlamak gerekmektedir.

A 58-year-old man with a left ventricular assist device (LVAD), which had been implanted 1 year earlier, presented with rest dyspnea. Moderate to severe aortic regurgitation (AR), pre-postcapillary pulmonary hypertension, modarete right ventricular (RV) failure, and low cardiac output were observed at presentation. Transcatheter aortic valve implantation (TAVI) was performed to treat the AR and a self-expandable aortic valve was implanted. Within minutes, hypotension, RV and inferior vena cava dilatation, and left atrial (LA) and left ventricular (LV) collapse occurred and persisted despite LVAD speed reduction. It was observed that severe RV failure had developed and venoarterial extracorporeal membrane oxygenation (VA-ECMO) was applied. Following VA-ECMO treatment, the RV dimensions decreased, and the LA and LV dimensions began to increase, as well as the LVAD flow. Weaning from VA-ECMO was unsuccessful and exitus occurred on the fifth day after TAVI secondary to RV failure. It was surmised that the decrease in blood circulation from the aorta to the LV after treatment of severe AR with TAVI caused an acute increase in the cardiac output and the RV preload. The acute increase in the RV preload led to acute severe right heart failure. It is necessary to prepare the RV to compete with an acute increase in preload before TAVI even when there is only modarete RV failure.

Abstract | English Full Text

Abstract | English Full Text

Abstract | English Full Text

Abstract | Full Text PDF