Assessment of cardiovascular function using conventional and modern echocardiography in unoperated adults with Marfan syndrome

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Relationship between 24- hour Holter variables, chest discomfort and syncope: Does age matter?

One hundred and forty four ambulatory, non-emergent human subjects from 20-88 years of age were investigated following routine 24 hour Holter monitoring referred by primary and tertiary care centers primarily for evaluation of palpitations and syncope. The patients were grouped into 3 different age categories: A) 20-59 years of age (16%), B) 60-69 years of age (26.4%) and C) > 70 years of age (57.6%). Heart rate profile, RR intervals, symptoms, frequency of premature supra ventricular and ventricular complexes were registered. The data show that though the occurrence and frequency of premature atrial and ventricular contractions over a period of 24 hours did not differ between the groups, the younger subjects documented more subjective discomforts during the Holter monitoring. Extra-systoles in excess of 1000 beats / 24 hour occured incessantly throughout the registration. Patients with syncope and those without did not differ as regards the Holter variables. However, subjects with atrial fibrillation had acceptable rate control and had significantly lower incidence of syncope than those with sinus rhythm. The findings suggest that in a county setting, Holter monitoring for evaluation of syncope may not be the first hand mode of investigation in a non emergent setting. On the contrary, the modality appears to be valuable for monitoring patients with atrial fibrillation. Even mild symptoms in the elderly population may warrant closer clinical follow up to prevent cardiac events and/or syncope leading to serious physical injury

Left atrial and renal functional status as drivers of adverse outcome in heart failure with reduced ejection fraction : a four-chamber deformation study in a small cohort of northern Sweden

In a small cohort of patients (58 ± 12 years) with heart failure and reduced ejection fraction (HFREF), we have analyzed myocardial mechanics in all the four principal cardiac chambers to investigate the prognostic value of left atrial (LA) remodeling. We have also studied to investigate a possible prognostic role of the biochemical markers, such as estimated glomerular filtration rate (eGFR, mL/min/1.73 m 2) and N-terminal pro-brain natriuretic peptide (NT-proBNP). We used two-dimensional speckle tracking echocardiography to compute cardiac deformation in addition to measuring LA reservoir strain using two algorithms based on the type of electrocardiogram gating protocol chosen. The data have shown that not only four-chamber strain was significantly lower in HFREF compared with the controls but also LA strain predicted an adverse outcome. In addition, in the subgroup analysis, eGFR was significantly lower in patients with adverse outcome (death or cardiac transplantation). Interestingly, the contribution of the renal biomarker was as significant as NT-proBNP in this regard

Cardiovascular manifestations in men and women carrying a FBN1 mutation

International audienceAims In patients with Marfan syndrome and other type-1 fibrillinopathies, genetic testing is becoming more easily available, leading to the identification of mutations early in the course of the disease. This study evaluates the cardiovascular (CV) risk associated with the discovery of a fibrillin-1 (FBN1) mutation. Methods and results A total of 1013 probands with pathogenic FBN1 mutations were included, among whom 965 patients [median age: 22 years (11– 34), male gender 53%] had data suitable for analysis. The percentage of patients with an ascending aortic (AA) dilatation increased steadily with increasing age and reached 96% (95% CI: 94 –97%) by 60 years. The presence of aortic events (dissection or prophylactic surgery) was rare before 20 years and then increased progressively, reaching 74% (95% CI: 67–81%) by 60 years. Compared with women, men were at higher risk for AA dilatation [≤30 years: 57% (95% CI: 52– 63) vs. 50% (95% CI: 45– 55), P ¼ 0.0076] and aortic events [≤30 years: 21% (95% CI: 17–26) vs. 11% (95% CI: 8–16), P , 0.0001; adjusted HR: 1.4 (1.1 –1.8), P ¼ 0.005]. The prevalence of mitral valve (MV) prolapse [≤60 years: 77% (95% CI: 72– 82)] and MV regurgitation [≤60 years: 61% (95% CI: 53–69)] also increased steadily with age, but surgery limited to the MV remained rare [≤60 years: 13% (95% CI: 8– 21)]. No difference between genders was observed (for all P. 0.20). From 1985 to 2005 the prevalence of AA dilatation remained stable (P for trend ¼ 0.88), whereas the percentage of patients with AA dissection significantly decreased (P for trend ¼ 0.01). Conclusion The CV risk remains important in patients with an FBN1 gene mutation and is present throughout life, justifying regular aortic monitoring. Aortic dilatation or dissection should always trigger suspicion of a genetic background leading to thorough examination for extra-aortic features and comprehensive pedigree investigation

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

International audienceBACKGROUND: The diagnosis of Marfan syndrome (MFS) is usually initially based on clinical criteria according to the number of major and minor systems affected following international nosology. The number of FBN1 mutation carriers, at risk of aortic complications who would not be properly diagnosed based only on clinical grounds, is of growing importance owing to the increased availability of molecular screening. The aim of the study was to identify patients who should be considered for FBN1 mutation screening. METHODS: Our international series included 1009 probands with a known FBN1 mutation. Patients were classified as either fulfilling or not fulfilling "clinical" criteria. In patients with unfulfilled "clinical" criteria, we evaluated the percentage of additional patients who became positive for international criteria when the FBN1 mutation was considered. The aortic risk was evaluated and compared in patients fulfilling or not fulfilling the "clinical" international criteria. RESULTS: Diagnosis of MFS was possible on clinical grounds in 79% of the adults, whereas 90% fulfilled the international criteria when including the FBN1 mutation. Corresponding figures for children were 56% and 85%, respectively. Aortic dilatation occurred later in adults with unfulfilled "clinical criteria" when compared to the Marfan syndrome group (44% vs 73% at 40 years, p<0.001), but the lifelong risk for ascending aortic dissection or surgery was not significantly different in both groups. CONCLUSIONS: Because of its implications for aortic follow-up, FBN1 molecular analysis is recommended in newly suspected MFS when two systems are involved with at least one major system affected. This is of utmost importance in patients without aortic dilatation and in children

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients <18 years of age at the last follow-up evaluation were analyzed (32%). At the time of diagnosis, the median age was 6.5 years. At the last examination, the population was classified as follows: neonatal Marfan syndrome, 14%; severe Marfan syndrome, 19%; classic Marfan syndrome, 32%; probable Marfan syndrome, 35%. Seventy-one percent had ascending aortic dilation, 55% ectopia lentis, and 28% major skeletal system involvement. Even when aortic complications existed in childhood, the rates of aortic surgery and aortic dissection remained low (5% and 1%, respectively). Some diagnostic features (major skeletal system involvement, striae, dural ectasia, and family history) were more frequent in the 10- to <18-year age group, whereas others (ascending aortic dilation and mitral abnormalities) were more frequent in the population with neonatal Marfan syndrome. Only 56% of children could be classified as having Marfan syndrome, according to international criteria, at their last follow-up evaluation when the presence of a FBN1 mutation was not considered as a major feature, with increasing frequency in the older age groups. Eighty-five percent of child probands fulfilled international criteria after molecular studies, which indicates that the discovery of a FBN1 mutation can be a valuable diagnostic aid in uncertain cases. The distributions of mutation types and locations in this pediatric series revealed large proportions of probands carrying mutations located in exons 24 to 32 (33%) and in-frame mutations (75%). Apart from lethal neonatal Marfan syndrome, we confirm that the majority of clinical manifestations of Marfan syndrome increase with age, which emphasizes the poor applicability of the international criteria to this diagnosis in childhood and the need for follow-up monitoring in cases of clinical suspicion of Marfan syndrome

Right atrial myocardial deformation by two-dimensional speckle tracking echocardiography predicts recurrence in paroxysmal atrial fibrillation.

BACKGROUND: Atrial fibrillation (AF) is a bi-atrial disease yet little attention has been given to right heart function in AF. We propose that the assessment of right atrial (RA) and right ventricular function (RV) using two-dimensional speckle tracking echocardiography (2D-STE) could be valuable in predicting AF recurrence in patients with paroxysmal AF (PAF). METHODS: Thirty patients with PAF were prospectively recruited from a dedicated AF clinic. Right atrial size, volume, and area and RV dimensions were analyzed along with RA and RV strain derived from 2D-STE at baseline and at 3 and 12 months. RESULTS: Higher RA booster strain independently predicted sinus rhythm (SR) maintenance for up to 1 year (P = 0.001). RV strain was impaired in patients with recurrent AF compared to those in SR (P < 0.05) but did not predict AF recurrence. Two-dimensional STE for RA and RV function was simple to perform with excellent reproducibility (adjusted R 2 0.92-0.99). CONCLUSIONS: Two-dimensional STE is useful and highly reproducible in assessing right heart function in AF patients. RA booster strain function was predictive of sinus rhythm maintenance for up to 1 year