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Carmi syndrome is a rare and severe disease defined by pyloric atresia and junctional epidermolysis bullosa. There are no clear recommendations when to consider a curative therapy, including surgical repair of pyloric atresia and when to transition to palliative care. We report the case of a female preterm infant suffering from Carmi syndrome. After definitive diagnosis and appropriate ethical counselling, we decided for surgical repair of the pyloric atresia. Nonetheless, there was no clinical improvement and our patient died after 35 days. Reviewing the literature, we found immunofluorescence microscopy to be most decisive examination to determine the prognosis of this severe disease. • Carmi syndrome (JEP-PA) is a rare and severe disease defined by pyloric atresia and junctional epidermolysis bullosa. • The overall mortality is reported to be 75%. • Decisive for prognosis is the quantity of integrin evaluated by immunofluorescence microscopy. • Decision about curative therapy or a palliative approach should be made in an interdisciplinary clinical committee [ABSTRACT FROM AUTHOR]

Background Hypertrophic cardiomyopathy (HCM) represents a disease with increased left ventricular (LV) wall thickness that is not solely explained by abnormal loading conditions. Purpose The aim of the present study was to obtain an overview of the patients with HCM admitted to cardiology centers and enrolled in the Romanian Hypertrophic Cardiomiopathy Registry (Ro-HCM). Methods Between Dec 2014–Jan 2017, 196 patients (pts) diagnosed with HCM in 7 tertiary cardiology centers were enrolled in the Ro-HCM, using a detailed form including clinical, laboratory, imaging and invasive data. Results Mean age at enrolment was 56 ± 15y, with a male preponderance (60.2%). Almost half pts (46.6%) presented obstructive HCM, while 47.9% had non-obstructive HCM. Maximal wall thickness was 20.3 ± 4.6 mm, while LV ejection fraction was 60 ± 8%. Eighty-three pts underwent coronary angiography. Atherosclerotic coronary artery disease was present in 18% and myocardial bridging in 9.6%. Cardiac magnetic resonance was performed in 12 pts. Symptoms of heart failure (dyspnea 67%, fatigue 54%) were the most prevalent; the majority of pts being in NYHA class II. Mean BNP value was 384 ± 463 pg/mL. The most common arrhythmias were atrial fibrillation (26%) and non-sustained ventricular tachycardia (17%). Mean sudden cardiac death risk score (SCD-RS) was 3.0 ± 2.3%. ICDs were implanted in 11 pts (5.5%). Patients were mainly treated with beta-blockers (72.4%), diuretics (26.5%) and oral anticoagulants (27.6%). Invasive treatment of LVOT obstruction was performed in a small number of pts (23 pts underwent myectomy, while 13 pts underwent alcohol septal ablation). Conclusion This study shows that the management of HCM requires access to a large range of diagnostic and treatment modalities, emphasizing the role of expert centers. The Ro-HCM describes the profile of patients with HCM treated in Romanian tertiary centres, the way the guidelines are applied and the weak points in management. [ABSTRACT FROM AUTHOR]

In patients (pts) with pulmonary hypertension (PH) different right ventricular (RV) function parameters predict outcome. Data regarding the prognostic value of averaged 6-segments RV longitudinal strain (RV-GLS) in PH pts are scarce. Purpose To assess the predictive value of 6-segments RV-GLS in PH pts receiving vasodilator therapy. Methods Forty-seven pts (40 ± 15 years, 36 women) with PH treated with either bosentan, sildenafil, or both and 33 controls with similar age and gender (40 ± 11 years, 21 women) were studied. Clinical parameters and biologic (B-type natriuretic peptide, BNP), invasive and echocardiographic parameters of RV function (TAPSE, TDI-derived free-RV wall S- and e’-wave, RV fractional area change (FAC), Tei index, I/H, RV isovolumic acceleration-IVA) were assessed. 6-segments RV-GLS was measured from the apical 4-chamber view by STE. PH pts were followed-up for 23 months (2–49). An endpoint of cardiac death was defined. Results PH pts had larger right chambers size, PA size and pressures, impaired RV function than controls (all P < 0.001), including RV-GLS (−14.0 ± 4.8% vs. −23.3 ± 2.7%, P < 0.001). During follow-up, 8 pts died. At univariable analysis, predictors of death were: TAPSE (15 ± 3 mm in deceased pts vs. 18 ± 3 mm in surviving pts, P = 0.011), RV-S (9.1 ± 2.1 cm/s vs. 11.5 ± 1.9 cm/s, P = 0.002), FAC (25 ± 9% vs. 36 ± 8%, P = 0.001), RV-GLS (−9.6 ± 4.2% vs. −14.9 ± 4.5%, P = 0.003), IVA (0.16 ± 0.07 cm/s 2 vs. 0.24 ± 0.10 cm/s 2 , P = 0.041) and BNP levels (lnBNP, 5.8 ± 1.0 vs. 4.7 ± 1.5, P = 0.05). ROC curve analysis showed that RV-GLS had the highest predictive value for cardiac death (AUC 0.82, P = 0.005). Cutoff value for RV-GLS derived from ROC curve analysis was used to construct Kaplan-Meier survival curves. A value of −13.2% for RV-GLS predicted cardiac death with 87% sensitivity and 62% specificity. Conclusions In PH pts, RV function parameters have prognostic value. Six-segments RV-GLS emerged as the strongest predictor of cardiac death with a cutoff value of −13.2% in this setting. [ABSTRACT FROM AUTHOR]

Background Quality of life (QOL) is often overlooked in clinical practice. Heart failure (HF) is a major complication of HCM, with more than three quarters of HCM patients (pts) developing HF symptoms. Purpose The aim of the study was to evaluate the impact of HF on QOL in HCM pts, as well as the associated major clinical determinants. Methods The present study is a cross-sectional single-center study. Evaluation of all pts was performed based on a comprehensive protocol including clinical, laboratory and imaging studies. All pts were administered the translated validated version of the Kansas City Cardiomyopathy Questionnaire (KCCQ) as a health status measure. Results The study group included 61 pts (55 ± 14.4 years, 62% men). The mean global KCCQ score was 65.6 ± 24.1 (range: 0–100), corresponding to a mild impairment in QOL. Patients in class II and III NYHA had a significantly worse QOL than class I NYHA, reflected in lower global KCCQ scores (class III NYHA 53.5 ± 16.3 vs class II NYHA 64.7 ± 23.1 vs class I NYHA 89 ± 13.2, P < 0.05). Patients with pulmonary hypertension (PH) had a worse QOL compared to those without PH (mean KCCQ score difference 13.8 ± 3.7, P < 0.05) and were significantly more likely to have had at least one episode of atrial fibrillation (76% vs 30%, P < 0.05). The KCCQ score correlated with the end-systolic LV volume ( r = 0.33, P < 0.05), LVEF ( r = 0.30, P < 0.05), pulmonary velocity acceleration time ( r = 0.32, P < 0.05), serum urea and creatinine ( r = −0.41, P < 0.01 and r = −0.33, P < 0.05, respectively) and age ( r = −0.281, P < 0.05). LVEF (st d β = −0.478, P < 0.05) and serum urea level (std β = −0.352, P < 0.05) emerged as independent predictors of QOL score. Out of the 5 items that make up the global KCCQ score, social limitation had the most significant impact on overall QOL ( R 2 : 0.82, P < 0.05). Conclusions Patients with HCM and HF present a mild degree of alteration in QOL. LVEF and renal function are independent predictors of perceived health status in these patients. [ABSTRACT FROM AUTHOR]

Abstract: The evaluation of intima-media thickening (IMT) of carotid artery is an important parameter in preclinical diagnosis of atherosclerosis and stroke risk in hypertensive patients. Measurements of carotid wall thickness via Doppler were considered to be valuable in prediction of risk of brain damage and future stroke due to hypertension in diabetic and non-diabetic patients. [Copyright &y& Elsevier]

Abstract: Diabetes mellitus is one of the main risk factors of cerebrovascular disease (CVD). Comparing non-diabetic and diabetic patients, the latter ones have a higher incidence of stroke, which tends to occur at younger ages. This paper deals with Echo Doppler evaluation of arteries in diabetic and non-diabetic patients. The findings allow us to conclude that the correct and early treatment of diabetes as well as a possible lowering of the risks for cerebrovascular disease are obligatory steps in the primary and secondary prevention of the cerebral ischemic events in diabetic patients with carotid atheromatous lesions. This consideration may help the physicians to have a deeper understanding of the pathophysiology, and to implement the necessary treatment and prevention of CVD in the diabetic population of high-risk. [Copyright &y& Elsevier]