Prognostic assessment and management of a patient with Carmi syndrome. A case report.

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.

Severe pulmonary arterial hypertension associated with congenital cardiac shunts: evolution under specific treatment.

Objective: The aim of this study was to compare the effects of Sildenafil, Bosentan and combined therapy in patients with congenital cardiac shunts associated pulmonary artery hypertension (CCS-PAH). Design: Prospective observational study (February 2011 - January 2014) with a historical control group (January 2009 - January 2011). Setting: "CC Iliescu" Institute for Emergency Cardiovascular Diseases of Bucharest, a tertiary university-affiliated center. Patients: All cases with CCS-PAH. Interventions: Specific vasodilatory therapy: Sildenafil, Bosentan or combined therapy. Outcome Measures: The primary outcome was the overall survival at 24 months. Results: Out of 108 patients with pulmonary arterial hypertension, there were 79 patients with CCS-PAH, 55 presenting a severe form of the disease. The mean age of the patients was 34.42±21.15 years, with 37 (67,3%) female patients. 23 patients received specific vasodilatory treatment (thirteen Sildenafil, seven Bosentan, three combined treatment), with 32 patients in the control group, without specific vasodilatory therapy. The specific vasodilatory therapy was associated with improved WHO/ NYHA functional class (p=0.025), oxygen saturation at the end of the six-minute walk test (p=0.011), decreased pulmonary artery systolic (p=0.002) and diastolic (p=0.004) pressures, and an increased S' wave in Tissue Doppler Imaging (p=0.008). Conclusions: Despite the complexity of CCS-PAH, with a complex constellation of underlying congenital heart defects, there are short-term benefits of a specific vasodilatory therapy.

Quantifying subtle changes in cardiovascular mechanics in acromegaly: a Doppler myocardial imaging study.

AIM OF THE STUDY: To describe morphological and functional cardiovascular changes in acromegaly (ACM) patients, as well as to investigate the ability of Doppler-based myocardial deformation imaging (DMI) to characterize subtle dysfunction in ACM. METHODS: 69 patients (pts) with ACM (mean age 47 ± 10 years, 27 men) and 31 controls (mean age 43 ± 16 years, matched for age and gender) were recruited. Standard echocardiography and DMI data were obtained for all patients. Peak systolic longitudinal strain values (S) were determined for the left and right ventricles. Radial S was measured at the level of the mid inferolateral segment. Using a high-resolution echo-tracking system, the main indices of arterial stiffness were measured. RESULTS: Of the ACM subjects, 57 had active disease (group A), and 12 controlled ACM (group B). All pts with ACM presented structural changes: a higher LV indexed mass (112 ± 36, 118 ± 23 vs 74 ± 18 g/m(2), p < 0.001) and a higher relative wall thickness (0.45 ± 0.09, 0.50 ± 0.07 vs 0.40 ± 0.07, p = 0.003) compared to controls. Also, ACM pts had functional changes: reduced LV ejection fraction (57 ± 5, 55 ± 5 vs 64 ± 4%, p < 0.001) and altered diastolic function (E/A 1.0 ± 0.4, 1.1 ± 0.1 vs 1.3 ± 0.3, p = 0.005) compared to controls. Both longitudinal and radial LV S values were lower in ACM compared to controls: -16.5 ± 3.5, -16.8 ± 4.3 vs -21.5 ± 3.8%, p < 0.001 for longitudinal and 38.3 ± 12.3, 35.6 ± 11.8 vs 52.2 ± 11.7%, p = 0.002 for radial strain. CONCLUSIONS: ACM pts present LV concentric hypertrophy and LV systolic and diastolic dysfunction, even in controlled disease. Altered global LV systolic function appears to be due both to longitudinal and radial dysfunction.

Laparoscopic sleeve gastrectomy reduces the predicted coronary heart disease risk and the vascular age in obese subjects.

BACKGROUND: Obesity is associated with high prevalence of coronary heart disease (CHD) and long term increased cardiovascular morbi-mortality. There are no data regarding the effect of laparoscopic sleeve gastrectomy (LSG) on long-term CHD - risk. It is known that "a man is as old as his arteries" and this concept is illustrated by Framingham coronary risk score, which can predict vascular age. PURPOSE: To assess the 10-year CHD risk in patients with obesity, preoperatively, and 6 and 12 months after LSG. METHODS: 47 consecutive obese subjects (44.7% males, mean age 39.8 years) scheduled for LSG were prospectively studied before and 6 and 12 months after surgery. The 10 years CHD risk and corresponding vascular age were calculated using Framingham risk score. RESULTS: The body mass index (BMI) decreased from 44.6 ± 10.6 kg m2 preoperatively to 32.2 ± 6.9 kg m2 and to 29.4 ± 5.4 kg m2 at 6 and 12 months follow-up (both p 0.05). Mean excessive weight loss (EWL) was 67.3 ± 23.7% and 78.3 ± 23.4% at 6 and 12 months postoperatively. At 6 and 12 months after LSG, there was a marked improvment of lipid profile(decrease of total cholesterol, LDL-cholesterol, triglycerides and increase of HDL-cholesterol) and a significant decrease in prevalence of diabetes mellitus, systemic hypertension and smoking. The 10-year CHD risk reduced from 10.1% preoperatively to 3.5% and to 2.2% at 6 and 12 months after surgery (both p 0.05). Patients' mean vascular age was 65.6 years preoperatively and decreased to 45.8 years 6 month spostoperatively (p 0.05) and to 40.7 years one year after LSG (p 0.05 vs. 6 months postoperatively, p=NS vs.chronological age). CONCLUSIONS: In obese subjects, CHD risk is significantly reduced early, beginning with 6 months after LSG and is diminished with 80% one year postoperatively. Despite the fact that not all patients had achieved the ideal weight yet,mean vascular age is similar to their chronological age one year after surgery.

Fibromuscular dysplasia--a rare cause of renovascular hypertension. Case study and overview of the literature data.

Renal artery stenosis (RAS) is associated with increased cardiovascular mortality and morbidity and may constitute a treatable cause of secondary hypertension. Fibromuscular dysplasia is frequently affecting children as the main cause of RAS, but is very rare in adults. We present the case of a 19-year-old overweight patient, with no known pathological conditions in her medical history or family background, admitted for severe, pulsing headaches during the past 3 months and increased blood pressure (BP) values for about a month (maximum BP 220/140 mmHg). The initial clinical exam and first-line imagistic methods did not provide a high suspicion for RAS. However, the invasive methods established the diagnosis of right renal artery medial dysplasia. Balloon angioplasty was the treatment of choice.

Aortic regurgitation due to quadricuspid aortic valve--case report and literature review.

Quadricuspid aortic valve is a rare variant of aortic semilunar valve, often being an unexpected discovery during cardiac surgery. We present the case of a 59 years old patient, who was admitted for dyspnea on light exertion and palpitations. The transthoracic echocardiography revealed severe aortic valve regurgitation due to a quadricuspid aortic valve, the result being confirmed by the transesophageal echo examination. The patient had a first class indication for aortic valve replacement and the surgical intervention was uneventful. The operative technique and case particularities are discussed in view of the literature published so far regarding this uncommon condition.

Continuous murmur--the auscultatory expression of a variety of pathological conditions.

Continuous murmur is a peculiarity of cardiovascular auscultation, relatively rare, which often hides complex cardiovascular diseases. This article is a review of literature data related to the continuous murmurs accompanied by commenting and illustrating them through our own cases.Recognizing of a continuous murmur and understanding the cardiovascular pathologies that it can hide, is a challenge in current practice.

Structural and functional changes of carotid wall properties in patients with acromegaly are not restored after 1 year of GH/IGF1 normalization.

UNLABELLED: Vascular changes are common in acromegaly (ACM). Current therapies can normalise the levels of both growth hormone (GH) and insulin-like growth factor (IGF1). OBJECTIVE: To establish whether the ACM vascular changes in patients with effectively managed disease are different from those in patients with an active condition. METHODS: 64 ACM patients were tested for serum GH (random and during an oral glucose tolerance test) and IGF1. Ultrasonography of the right common carotid (RCC) explored structural (the carotid diameter and intima-media thickness index (IMT)) and functional (the augmentation index (AIx), elastic modulus (Ep), and local pulse wave velocity (PWV)) arterial parameters in the ACM patients (groups A and B) and an age- and sex-matched control group of 21 patients without acromegaly (group C). RESULTS: The ACM patients were divided into 2 subgroups that had similar cardiovascular risk factor profiles: A (n=10, with controlled ACM), and B (n=54, with active ACM). The AIx was higher in groups A (27.7% [2.2-54.3]) and B (20.0% [ - 38.2-97.1]) than in group C (3.5% [ - 11.3-31.1]), p=0.01 and 0.002, respectively. The group B patients presented with poorer functional carotid wall parameters than the control subjects: Ep-95.5 [33-280] KPa vs. 77.5 [39-146] KPa, p=0.01; and PWV-6 [3.6-10.4] m/s vs. 5.4 [3.9-7.2] m/s, p=0.03.The ACM patients had greater RCC diameters (6.4 ± 0.6 mm vs. 5.7 ± 0.6 mm, p<0.001) and IMT values (0.72 ± 0.13 mm vs. 0.58 ± 0.08 mm, p<0.001) than the subjects in group C. CONCLUSIONS: Both the controlled and active ACM patients showed structural arterial changes. After 1 year of disease control, the patients with controlled ACM showed improvements in the functional, but not the structural, arterial parameters compared with the patients with an active condition.

Cerebrospinal fluid amyloid ß and tau in LRRK2 mutation carriers.

OBJECTIVE: The goal of the current investigation was to examine a cohort of symptomatic and asymptomatic LRRK2 mutation carriers, in order to address whether the reported alterations in amyloid ß (Aß) and tau species in the CSF of patients with sporadic Parkinson disease (PD) are a part of PD pathogenesis, the aging process, or a comorbid disease in patients with PD, and to explore the possibility of Aß and tau as markers of early or presymptomatic PD. METHODS: CSF Aß42, total tau, and phosphorylated tau were measured with Luminex assays in 26 LRRK2 mutation carriers, who were either asymptomatic (n = 18) or had a phenotype resembling sporadic PD (n = 8). All patients also underwent PET scans with 18F-6-fluoro-l-dopa (FD), 11C-(±)-α-dihydrotetrabenazine (DTBZ), and 11C-d-threo-methylphenidate (MP) to measure dopaminergic function in the striatum. The levels of CSF markers were then compared to each PET measurement. RESULTS: Reduced CSF Aß42 and tau levels correlated with lower striatal dopaminergic function as determined by all 3 PET tracers, with a significant association between Aß42 and FD uptake. When cases were restricted to carriers of the G2019S mutation, the most common LRRK2 variant in our cohort, significant correlations were also observed for tau. CONCLUSIONS: The disposition of Aß and tau is likely important in both LRRK2-related and sporadic PD, even during early phases of the disease. A better understanding of their production, aggregation, and degradation, including changes in their CSF levels, may provide insights into the pathogenesis of PD and the potential utility of these proteins as biomarkers.

Coarctation of the aorta in adults: what is the best treatment? Case report and literature review.

Coarctation of the aorta is a congenital cardiac malformation that can go undiagnosed until old age with only hypertension as a marker of its presence because clinical signs can be subtle and overlooked if a complete physical exam is not performed. We report the case of a 45 year-old women, diagnosed with severe coarctation of the aorta just distal to the left subclavian artery, with poststenotic dilatation of the descending aorta and difficult control of blood pressure values. The patient was successfully treated interventionally, by balloon angioplasty with deployment of a covered stent. We review here the different methods employed for the treatment of coarctation of the aorta in adults, including surgical or percutaneous balloon angioplasty with or without stent placement, underlying their complications and the factors that influence the choice of the best coarctation repair method.

Cardiac magnetic resonance imaging in ischemic heart disease: a clinical review.

Cardiac magnetic resonance imaging (MRI) has emerged as a prime player in the clinical and preclinical detection of ischemic heart disease (IHD) as well in the prognosis assessment by offering a comprehensive approach for all spectrums of coronary artery disease (CAD) patients. The aim of this review is to provide the reader a state-of-the art on how the newest cardiac MRI techniques can be used to study IHD patients. In patients with suspected/stable CAD, functional and perfusion imaging both at rest and during vasodilatatory stress (adenosine, dypiridamole)/dobutamine stress can accurately depict ischemic myocardium secondary to significant coronary artery stenosis. In patients with acute MI, MRI is a robust tool for differentiating and sizing the jeopardized and the infarcted myocardium by using a combination of functional, edema, perfusion and Gd contrast imaging. Moreover, important prognostic factors like myocardial salvage, the presence of microvascular obstruction (MVO), post reperfusion myocardial hemorrhage, RV involvement and infarct related complications can be assessed in the same examination. In patients with chronic ischemic cardiomyopathy, the role of the MRI extends from diagnosis by means of Gadolinium contrast scar imaging to therapy and prognosis by functional assessment and viability testing with rest and dobutamine stress imaging. In all the circumstances mentioned, MRI derived information has been proven valuable in every day clinical decision making and prognosis assessment. Thus, MRI is becoming more and more an accepted alternative to other imaging modalities both in the acute and chronic setting.

Modern risk stratification in coronary heart disease.

The prevalence and impact of cardiovascular diseases in the world are growing. There are 2 million deaths due to cardiovascular disease each year in the European Union; the main cause of death being the coronary heart disease responsible for 16% of deaths in men and 15% in women. Prevalence of cardiovascular disease in Romania is estimated at 7 million people, of which 2.8 million have ischemic heart disease. In this epidemiological context, risk stratification is required for individualization of therapeutic strategies for each patient. The continuing evolution of the diagnosis and treatment techniques combines personalized medicine with the trend of therapeutic management leveling, based on guidelines and consensus, which are in constant update. The guidelines used in clinical practice have involved risk stratification and identification of patient groups in whom the risk-benefit ratio of using new diagnostic and therapeutic techniques has a positive value. Presence of several risk factors may indicate a more important total risk than the presence / significant increase from normal values of a single risk factor. Modern trends in risk stratification of patients with coronary heart disease are polarized between the use of simple data versus complex scores, traditional data versus new risk factors, generally valid scores versus personalized scores, depending on patient characteristics, type of coronary artery disease, with impact on the suggested therapy. All known information and techniques can be integrated in a complex system of risk assessment. The current trend in risk assessment is to identify coronary artery disease in early forms, before clinical manifestation, and to guide therapy, particularly in patients with intermediate risk, which can be classified in another class of risk based on new obtained information.

A personalized medicine target: heart failure in women.

It is increasingly known that gender differences affect disease presentation, clinical pathways, diagnostic yield and prognosis of patients with cardiovascular disorders. There are novel insights regarding heart failure that provide a platform for personalized medicine. This is a review of the existent data about heart failure in women, a neglected topic that has gained considerable interest in the past years. Heart failure in women differs in many aspects from that of men. Part of the difference is attributable to age, ventricular function and cause of heart failure, with women being generally older at heart failure onset, more often without left ventricular systolic dysfunction and less often having heart failure due to ischaemic heart disease, in comparison with men. Elucidation of the genetic and pathophysiological basis of sex differences, together with clinical trials designed to study the impact of treatments in women, could lead to sex based heart failure management.

Acute embolic events--myocardial infarction and stroke, in the presence of an interatrial septal aneurysm.

We will present the case of a 52 year old patient, admitted to our Department for exertional angina, with 2 recent acute events--inferior myocardial infarction and stroke. The coronary angiography revealed patent coronary arteries, without atherosclerotic lesions. The transthoracic echocardiography established the presence of an interatrial septal aneurysm with interatrial shunt. Under these circumstances, we have considered the presence of paradoxical embolism as a potential pathophysiological mechanism of the acute ischemic events. The percutaneous closure of the interatrial shunt to prevent the recurrence of embolic events will be discussed.

Asymptomatic polyvascular atherosclerotic disease requires a complex management strategy--case report and review of the literature.

Atherosclerosis represents a systemic disease that affects all major vascular territories. Despite advances in medical therapies to prevent atherosclerosis and better manage patients with established peripheral arterial disease (PAD), the incidence of PAD continues to increase, and associated morbidity remains high, especially as the population ages. Over the past decade, percutaneous revascularization therapies for the treatment of patients with PAD have tremendously evolved, and a great number of patients can be offered treatment options that are less invasive than traditional surgical ones. Here we are presenting the case of a 67-year-old diabetic woman with multiple cardiovascular risk factors and oligosymptomatic atherosclerotic involvement in several important territories (severe internal carotid stenosis, severe proximal left subclavian artery stenosis, critical serial stenosis in the mid-segment of the left anterior descending artery). Bilateral staged carotid artery plus left subclavian artery stenting was performed with very good results. Regarding the existence of asymptomatic one vessel coronary artery disease (CAD) with a negative exercise test our attitude was to maximize anti-ischemic medical therapy. In conclusion, the presence of multivascular atherosclerotic disease in a diabetic patient with coexisting risk factors is not surprising and it only reinforces the well known fact that we have to search for the involvement of other territories in an oligosymptomatic patient.

Left atrial remodelling early after mitral valve repair for degenerative mitral regurgitation.

OBJECTIVE: Left atrial (LA) size is an important predictor of outcome after mitral valve replacement in patients with symptomatic chronic mitral regurgitation (MR). Data on LA remodelling after mitral valve repair (MVr) for chronic non-ischaemic MR are scarce. The aim of this study was to assess changes in LA size early after MVr for chronic severe degenerative MR and to identify clinical and echocardiographic correlates of those changes. METHODS: The study analysed 225 consecutive patients who underwent MVr and were echocardiographically evaluated in our hospital within 1 month before and 1-6 months after surgery. Patients with MR aetiology other than degenerative, associated aortic valve replacement, or congenital heart disease were excluded. The remaining 79 patients (aged 60 (SD 12) years, 55 men) with isolated chronic severe degenerative MR formed the study group. LA reverse remodelling was defined as a decrease in LA volume index (LAVi) > or = 15%. RESULTS: LA dimensions significantly decreased after MVr (p<0.001). Mean LAVi reduction was 29% (SD 18%). LA reverse remodelling was observed in 63 patients (80%). Correlates of LAVi reduction were preoperative LAVi (p = 0.008), systolic and diastolic blood pressure (p = 0.032, p = 0.009), postoperative transmitral mean pressure gradient (p = 0.001) and residual MR (p = 0.043). LAVi reduction was lower in patients > 45 years (p = 0.008) and in hypertensive patients (p = 0.031). CONCLUSION: LA reverse remodelling is common early after MVr for chronic severe degenerative MR. Preoperative LAVi, blood pressure, postoperative transmitral mean pressure gradient, residual MR and age > 45 are related to LAVi reduction. The prognostic value of LA reduction in this setting needs further study.

The evaluation of carotid stenosis as risk factor for stroke in hypertensive diabetic and non-diabetic patients.

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.

Comparative carotid echo-doppler study in diabetic and non-diabetic patients with atherosclerotic carotid macroangiopathy.

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.