Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases.

Fetal skeletal dysplasias are a heterogeneous group of rare genetic disorders, affecting approximately 2.4-4.5 of 10,000 births. We performed a retrospective review of the perinatal autopsies conducted between the years 2002-2011 at our center. The study population consisted of fetuses diagnosed with skeletal dysplasia with subsequent termination, stillbirth and live-born who died shortly after birth. Of the 2002 autopsies performed, 112 (5.6%) were diagnosed with skeletal dysplasia. These 112 cases encompassed 17 of 40 groups of Nosology 2010. The two most common Nosology groups were osteogenesis imperfecta [OI, 27/112 (24%)] and the fibroblast growth factor receptor type 3 (FGFR3) chondrodysplasias [27/112 (24%)]. The most common specific diagnoses were thanatophoric dysplasia (TD) type 1 [20 (17.9%)], and OI type 2 [20 (17.9%)]. The combined radiology, pathology, and genetic investigations and grouping the cases using Nosology 2010 resulted in a specific diagnosis in 96 of 112 cases.

Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia.

OBJECTIVE: To determine the incidence of temporal lobe dysplasia (TLD) detected on prenatal ultrasound in thanatophoric dysplasia (TD) over an 11-year period in a tertiary referral center. METHODS: An 11-year retrospective review of perinatal autopsies from 2002 to 2013 was performed to identify cases of TD. The ultrasound images and corresponding reports of all TD cases were examined for the presence of TLD. The same set of images subsequently underwent a retrospective review by a perinatal radiologist with knowledge of the features of TLD to determine whether they could be identified. RESULTS: Thirty-one cases of TD underwent perinatal autopsy, and prenatal ultrasound imaging was available for review in 24 (77%). Mean gestational age at diagnosis of TD was 21.3 (range, 18-36) weeks. TLD was identified and reported in 6/24 (25%) cases; all six cases occurred after 2007. Retrospective interpretation of the ultrasound images identified features of TLD in 10 additional cases. In total, 16/24 (67%) cases displayed sonographic evidence of TLD. Temporal trends showed that TLD features were present in 50% (5/10) of all TD cases between 2002 and 2006 and in 79% (11/14) of those detected between 2007 and 2013. CONCLUSIONS: At present, the detection rate of TLD by ultrasound is low but may be increased by modified brain images that enhance visualization of the temporal lobes. Prenatal identification of TLD may help in the prenatal diagnosis of TD and thus provide more accurate prenatal counseling and guide molecular investigations to confirm the specific diagnosis of TD.

Under-recognized complications in patients with paroxysmal nocturnal haemoglobinuria: raised pulmonary pressure and reduced right ventricular function.

Pulmonary hypertension is becoming a recognized complication of the hereditary and acquired haemolytic anaemias, associated with a poor prognosis. Recently we reported that patients with paroxysmal nocturnal haemoglobinuria (PNH) have high levels of N-terminal pro-brain natriuretic peptide (NT-proBNP), a biomarker associated with both right and left ventricular dysfunction and cardiac dysfunction. In the current study we evaluated a cohort of patients (N = 29) with haemolytic PNH for elevated pulmonary artery systolic pressure and cardiac function by Doppler-echocardiography. Of the 29 patients, eight were further studied using cardiac magnetic resonance imaging (MRI), as well as two additional patients (number of patients studied using cardiac MRI = 10). Plasma from the first cohort (N = 29) demonstrated intravascular haemolysis associated with a 12-fold increase in median nitric oxide (NO) consumption when compared with healthy volunteers (P < 0·001). Doppler echocardiography demonstrated normal left ventricular function and elevated pulmonary artery systolic pressure in 41% of patients. Cardiac MRI from the second cohort (N = 10) demonstrated depressed right ventricular function in 80% of PNH patients tested, and 60% had findings suggestive of subclinical small pulmonary emboli. Together, these data suggest a high prevalence of haemolysis-associated NO scavenging, Doppler-estimated systolic pulmonary hypertension, and depressed right ventricular function in patients with PNH.

The role of multi-modality imaging for sinus of Valsalva aneurysms.

Sinus of Valsalva aneurysms (SVAs) are uncommon but important entities. They are most often congenital in origin, resulting from incomplete fusion of the aortic media to the aortic valve annulus. Less frequently, they may be acquired, usually secondary to infective endocarditis. Unruptured aneurysms may be clinically silent and diagnosed incidentally, but can also produce symptoms as a consequence of mass effect on related structures. Rupture may present with sudden hemodynamic collapse but can have a more insidious onset depending upon the site and size of the perforation. Early diagnosis is imperative and can usually be made reliably by transthoracic echocardiography. However, transesophageal echocardiography may sometimes be required for confirmation. Cardiovascular magnetic resonance imaging (CMRI) and multi-detector computed tomography are being increasingly utilized for evaluation of SVAs and can offer valuable complimentary information. CMRI in particular enables a comprehensive assessment of anatomy, function and flow in a single sitting. Surgical repair forms the mainstay of treatment for both ruptured and unruptured aneurysms and has low complication rates. This article provides an overview of the pathological and clinical aspects of SVAs and discusses in detail the role of advanced imaging modalities in their evaluation.

Absenteeism among nurses in a tertiary care hospital in India.

BACKGROUND: Absence due to sickness among nurses has not been studied in-depth in the Indian setting. METHODS: We studied the sickness pattern among 385 nurses during one calendar year and retrospectively compared the absenteeism among nurses in different work areas of a tertiary care hospital. RESULTS: Sickness leave was availed by 68.9% of nurses at least once during the year. Nurses in the ward area were significantly older (43 [5.4] years of age) than those in operation theatres (38 [6.2] years of age) and intensive care units (39 [5.9] years of age). The average annual duration of absenteeism per nurse (index of severity) was 27.7 days/ person. The average sickness leave days/spell (index of duration) was 8.82 days/person. The annual inception rate of non-sickness leave (index of frequency) was 1.57 spells/person and for sickness leave was 1.27 spells/person. While nurses working in the ward area took the highest number of unplanned sickness leave (7.36 days/spell), the planned sickness leaves were highest (64.8 days/spell) among those in operation theatres. About half the episodes of sickness were related to diseases of the respiratory tract, digestive system, Infections and Injury. Planned sickness leave mainly constituted maternity leave related to childbearing and was highest among younger nurses in operation theatres and intensive care units. CONCLUSION: Unplanned leave demands greater administrative adjustments and substitution. Inappropriate substitution may compromise patient care and sharing of work by the staff present; it may increase the workload and absenteeism. Occupational welfare services at tertiary care hospitals should work towards decreasing absence due to sickness among nurses.

Heart-type fatty acid-binding protein predicts long-term mortality and re-infarction in consecutive patients with suspected acute coronary syndrome who are troponin-negative.

OBJECTIVES: The purpose of this study was to establish the prognostic value of measuring heart fatty acid-binding protein (H-FABP) in patients with suspected acute coronary syndrome (ACS) (in particular, low- to intermediate-risk patients), in addition to troponin measured with the latest third-generation troponin assay. BACKGROUND: We have previously shown that H-FABP is a useful prognostic marker in patients with proven ACS. METHODS: Patients (n = 1,080) consecutively admitted to the hospital with suspected ACS were recruited over 46 weeks. Siemens Advia Ultra-TnI (Siemens Healthcare Diagnostics, Newbury, United Kingdom) and Randox Evidence H-FABP (Randox Laboratories, Ltd., Co., Antrim, United Kingdom) were analyzed on samples collected 12 to 24 h from symptom onset. After exclusion of patients with ST-segment elevation and new left bundle branch block, 955 patients were included in the analysis. RESULTS: The primary outcome measure of death or readmission with myocardial infarction after a minimum follow-up period of 12 months (median 18 months) occurred in 96 of 955 patients (10.1%). The H-FABP concentration was an independent predictor of death or myocardial infarction, after multivariate adjustment. Patients with H-FABP concentrations >6.48 microg/l had significantly increased risk of adverse events (adjusted hazard ratio: 2.62, 95% confidence interval: 1.30 to 5.28, p = 0.007). Among troponin-negative patients (which constituted 79.2% of the cohort), the aforementioned cutoff of 6.48 microg/l identified patients at very high risk for adverse outcomes independent of patient age and serum creatinine. CONCLUSIONS: We have demonstrated that the prognostic value of elevated H-FABP is additive to troponin in low- and intermediate-risk patients with suspected ACS. Other studies suggest that our observations reflect the value of H-FABP as a marker of myocardial ischemia, even in the absence of frank necrosis.

Sinus of valsalva aneurysms: assessment with cardiovascular MRI.

OBJECTIVE: The aim of this article is to present the role of cardiovascular MRI in the assessment of sinus of Valsalva aneurysms. An imaging protocol is described, along with a systematic approach to interpret MR findings and a synopsis of key findings. CONCLUSION: Radiologists should have a systematic approach to the assessment and evaluation of sinus of Valsalva aneurysms to facilitate optimal patient management.

Aortocoronary bypass graft fistula after surgical treatment of circumflex coronary artery fistula: a unique variation of a rare condition successfully treated with percutaneous embolization.

Multiple coronary artery fistulae are rare, complications can be life-threatening, and with large or symptomatic fistulae, intervention is mandatory. Both surgical and percutaneous interventions are well-described. We believe this is the first report of the embolization of an acquired fistula following initial surgical treatment of multiple congenital fistulae.

The potential role of MRI in veterinary clinical cardiology.

Over the last decade, magnetic resonance imaging (MRI) has become established as a useful referral diagnostic method in veterinary medicine that is widely used in small animal brain and spinal diseases, aural, nasal and orbital disorders, planning soft tissue surgery, oncology and small animal and equine orthopaedics. The use of MRI in these disciplines has grown due to its unparalleled capability to image soft tissue structures. This has been exploited in human cardiology where, despite the inherent difficulties in imaging a moving, contractile structure, cardiac MRI (CMRI) has become the optimal technique for the morphological assessment and quantification of ventricular function. Both CMRI hardware and software systems have developed rapidly in the last 10 years but although several preliminary veterinary CMRI studies have been reported, the technique's growth has been limited and is currently used primarily in clinical research. A review of published studies is presented with a description of CMRI technology and the potential of CMRI is discussed along with some of the reasons for its limited usage.

Complete left pericardial defect: evaluation with supine and decubitus dual source CT.

We present a case of complete left pericardial defect which was evaluated with retrospectively gated dual source CT. Imaging findings included right heart chamber dilatation, extreme levoposition and excessive cardiac mobility which was demonstrated by repeat imaging in the left lateral decubitus position. Cardiac CT is an excellent means of evaluating pericardial disease owing to its high spatial resolution. Decubitus imaging helps confidently distinguish partial from complete forms of pericardial defect.

Delayed enhancement imaging: standardised segmental assessment of myocardial viability in patients with ST-elevation myocardial infarction.

OBJECTIVE: To prospectively compare a selective short axis slice positioning method (selective 3-of-5) used in combination with a single long-axis slice, to the conventional short axis multi-slice technique in the assessment of myocardial viability. MATERIALS AND METHODS: Thirty-one patients with recent or chronic ST segment elevation myocardial infarct (STEMI) were recruited to undergo delayed enhancement (DE) cardiac magnetic resonance imaging (CMR). All patients underwent both methods of DE imaging, with subsequent review of both sets of data by two experienced observers. Sensitivity and specificity, as well as intra and interobserver reproducibility for both techniques were assessed. RESULTS: There was good agreement between the selective 3-of-5 and the conventional multi-slice method for the assessment of viability, with no significant difference in results for sensitivity or reproducibility between the techniques. CONCLUSION: In patients with STEMI, a selective 3-of-5 short axis slice acquisition used in combination with a single vertical long-axis slice can be utilised to produce a standard American Heart Association (AHA) 17-segment model for the assessment of myocardial viability.

Myocardial T1 mapping: application to patients with acute and chronic myocardial infarction.

T(1) maps obtained with modified Look-Locker inversion recovery (MOLLI) can be used to measure myocardial T(1). We aimed to evaluate the potential of MOLLI T(1) mapping for the assessment of acute and chronic myocardial infarction (MI). A total of 24 patients with a first MI underwent MRI within 8 days and after 6 months. T(1) mapping was performed at baseline and at selected intervals between 2-20 min following administration of gadopentetate dimeglumine (Gd-DTPA). Delayed-enhancement (DE) imaging served as the reference standard for delineation of the infarct zone. On T(1) maps the myocardial T(1) relaxation time was assessed in hyperenhanced areas, hypoenhanced infarct cores, and remote myocardium. The planimetric size of myocardial areas with standardized T(1) threshold values was measured. Acute and chronic MI exhibited different T(1) changes. Precontrast threshold T(1) maps detected segmental abnormalities caused by acute MI with 96% sensitivity and 91% specificity. Agreement between measurements of infarct size from T(1) mapping and DE imaging was higher in chronic than in acute infarcts. Precontrast T(1) maps enable the detection of acute MI. Acute and chronic MI show different patterns of T(1) changes. Standardized T(1) thresholds provide the potential to dichotomously identify areas of infarction.

Relationship between central sympathetic drive and magnetic resonance imaging-determined left ventricular mass in essential hypertension.

BACKGROUND: Sympathetic activation has been implicated in the development of left ventricular hypertrophy (LVH). However, the relationship between sympathetic activation and LV mass (LVM) has not been clearly defined across a range of arterial pressure measurements. The present study was planned to determine that relationship, using cardiac magnetic resonance imaging to accurately quantify LVM, in hypertensive patients with and without LVH and in normal subjects. METHODS AND RESULTS: Twenty-four patients with uncomplicated and untreated essential hypertension (LVH[-]) were compared with 25 patients with essential hypertension and left ventricular hypertrophy (LVH[+]) and 24 normal control subjects. Resting muscle sympathetic nerve activity was quantified as multiunit bursts and single units. Cardiac magnetic resonance imaging-determined LVM was indexed to body surface area (LVM index); in the LVH[-] group, LVM index was 67+/-2.1 g/m2, a value between those of the LVH[+] (91+/-3.4 g/m2) and normal control (57+/-2.2 g/m2) groups, respectively. The sympathetic activity in the LVH[-] group (53+/-1.3 bursts per 100 cardiac beats and 63+/-1.6 impulses per 100 cardiac beats) was between (at least P<0.001) those of the LVH[+] (66+/-1.7 bursts per 100 cardiac beats and 77+/-2.2 impulses per 100 cardiac beats) and normal control (39+/-3.0 bursts per 100 cardiac beats and 45+/-3.4 impulses per 100 cardiac beats) groups. Significant positive correlation existed between sympathetic activity and LVM index in the LVH[-] and LVH[+] groups (at least r=0.76, P<0.0001) but not in the normal control group. However, no consistent relationship existed between arterial blood pressure and sympathetic activity or LVM index. CONCLUSIONS: These findings further support the hypothesis that central sympathetic activation is associated with the development of LVH in human hypertension.

Do flat detector cardiac X-ray systems convey advantages over image-intensifier-based systems? Study comparing X-ray dose and image quality.

The recent introduction of "flat-panel detector" (FD)-based cardiac catheterisation laboratories should offer improvements in image quality and/or dose efficiency over X-ray systems of conventional design. We compared three X-ray systems, one image-intensifier (II)-based system (system A), and two FD-based designs (systems B and C), assessing their image quality and dose efficiency. Phantom measurements were performed to assess dose rates in fluoroscopy and cine acquisition. Phantom dose rates were broadly similar for all systems, with all systems classified as offering "low" dose rates in fluoroscopy on standard phantoms. Patient X-ray dose rate and subjective image quality was assessed for 90 patients. Dose area product (DAP) rates were similar for all systems, except system C, which had a lower DAP rate in fluoroscopy. In terms of subjective image quality, the order of preference was (best to worst): system C, system A, system B. This study indicates that the use of an FD detector does not infer an automatic improvement in image quality or dose efficiency over II based designs. Specification and configuration of all of the components in the X-ray system contribute to the dose levels used and image quality achieved.

Myocardial T1 mapping for detection of left ventricular myocardial fibrosis in chronic aortic regurgitation: pilot study.

OBJECTIVE: The aim of this study was to identify diffuse myocardial fibrosis secondary to chronic aortic regurgitation by comparing the T1 relaxation times of left ventricular myocardium in a pilot patient group with a previously established normal range of times. SUBJECTS AND METHODS: Eight patients with chronic aortic regurgitation and normal coronary arteries awaiting surgical valve replacement underwent a comprehensive MRI examination that included assessment of left ventricular function, severity of valvular regurgitation, and presence of overt myocardial scar evidenced by delayed enhancement. For each patient, myocardial T1 relaxation times determined with a modified Look-Locker technique before and after contrast administration were compared with values previously established for 15 healthy volunteers. RESULTS: There was no statistical difference (p > 0.05) in slice-averaged myocardial T1 relaxation times either before or after gadolinium administration in the patient group compared with the normal range of times. Segmental averaged T1 relaxation times in segments with abnormal wall motion did, however, show statistically significant differences from healthy controls 10, 15, and 20 minutes after administration of gadolinium (510 vs 476 milliseconds, p = 0.001; 532 vs 501 milliseconds, p = 0.002; 560 vs 516 milliseconds, p = 0.001, respectively). Two of the aortic regurgitation patients also had focal areas of myocardial delayed enhancement. CONCLUSION: Segment-based myocardial T1 mapping has the potential for showing differences between relaxation times in aortic regurgitation and in normal hearts, suggesting the existence of a diffuse myocardial fibrotic process.

The assessment of left ventricular hypertrophy in hypertension.

The presence of left ventricular hypertrophy (LVH) in hypertension, as detected by the electrocardiogram or echocardiography, is associated with an increased risk of mortality and morbidity several times above and beyond the risk of hypertension alone. The LIFE (Losartan Intervention For Endpoint reduction in hypertension) study confirmed that pharmacological agents, which reduce LVH, confer further reduction in morbidity and mortality. This makes the identification of patients with LVH all the more important. In this article we describe the various methods available to diagnose the presence of LVH in patients with hypertension, and consider their strengths and their place in clinical practice and in research.

X-ray dose reduction in fluoroscopically guided electrophysiology procedures.

This study assessed the efficacy of a new dose reduction regime in fluoroscopically guided electrophysiology (EP) procedures, which included diagnostic electrophysiological investigations, radiofrequency ablation, and biventricular pacing. A modified dose regime for fluoroscopy was implemented in one of our cardiac electrophysiology laboratories. The x-ray system was programmed with a hierarchy of three fluoroscopy doses, and therefore image quality and settings. The default (lowest) dose mode was not expected to be suitable for all patient sizes or for the entirety of all procedures. Staff raised the dose level in a stepped manner as and when required to optimize the imaging requirements of the procedure. Phantom studies indicated that the low dose mode provided adequate image quality for visualizing EP catheters, while significantly lowering patient skin dose. In 52 clinical cases, questionnaires were used to assess the subjective clinical image quality. The mean image quality score for the low dose setting was rated between "adequate" and "good." The fluoroscopy dose level was raised from the lowest level for 6% of the total fluoroscopy time. Procedural Dose Area Product (DAP) meter readings were analyzed for patients prior to (n = 85) and after (n = 150) the implementation of the low dose regime and showed an overall reduction in DAP rate of 74%. The hierarchical dose regime proved to be acceptable in routine clinical practice for EP procedures, leading to significant reductions in patient doses.

Normal range of human left ventricular volumes and mass using steady state free precession MRI in the radial long axis orientation.

BACKGROUND: The radial long-axis orientation for the measurement of left ventricular (LV) volume and mass has been shown to have advantages over the short-axis orientation. Previous work has highlighted the need for technique specific normal ranges. The purpose of this study was therefore to establish normal ranges of LV volume and mass for the radial long-axis orientation. MATERIALS AND METHODS: Forty normal subjects (20 males, average age 32.3, age range 19-58; 20 females, average age 37.4, age range 21-54) were examined utilising a steady state free precession (SSFP) pulse sequence. Two observers analysed the images independently using in-house validated software. RESULTS: The normal ranges for LV end-diastolic volume measurements after adjustment to body surface area (BSA) were 62-120 ml for males and 58-103 ml for females. LV mass indexed to BSA ranged from 50-86 g for males and 36-72 g for females. The normal range for ejection fraction was 49-73% for males and 54-73% for females. CONCLUSION: A gender specific normal range using SSFP in the radial long-axis orientation was established.

Saddle arterial embolus in a patient with Down syndrome.

We report acute thromboembolic events in a 14-year-old boy with Down syndrome and repaired atrioventricular septal defect. He presented with sudden onset of bilateral lower limb ischemia. Transesophageal echocardiography detected a thrombus in the right atrium. An arterial saddle embolus was removed following bilateral iliac embolectomy. Despite anticoagulation, he presented again with sudden bilateral lower limb ischemia and respiratory distress. Multiple pulmonary emboli and a thrombus in the right atrium were noted on imaging studies. An arterial embolus was removed from the abdominal aorta at the bifurcation. To our knowledge, this is the first report of a child or adolescent with a repaired congenital heart lesion and arterial embolism requiring embolectomy. This association and possible etiological factors are discussed.