Endocrine, cardiac and neuropsychological aspects of adult congenital adrenal hyperplasia.

OBJECTIVE: To investigate the metabolic, cardiovascular, and neuropsychological phenotype, quality of life (QoL), and hormonal regulation in individuals with congenital adrenal hyperplasia (CAH), a group of autosomal recessive disorders characterized by impaired synthesis of cortisol in the adrenal cortex and, if untreated compensatory hyperandrogenism. CAH is associated with an increased cardiovascular and metabolic morbidity, possibly due to overtreatment with glucocorticoids, leading to weight gain, insulin resistance, and metabolic syndrome. DESIGN, PARTICIPANTS, MEASUREMENTS: Thirty-seven individuals with CAH and 33 age- and sex-matched controls were evaluated at a single centre at Aarhus University Hospital with echocardiography, electrocardiogram, 24-h blood pressure, biochemistry, anthropometrics, and autism spectrum, anxiety, depression, personality, cognitive failures, and QoL were assessed using questionnaires. RESULTS: CAH individuals had lower height than controls (170.5 vs. 182.9 cm in males and 160.2 vs. 170.1 cm in females, p < 0.01). Compared with female controls, females with CAH had higher haemoglobin (8.8 vs. 8.2 mmol/L, p = 0.003) and BMI (29.7 vs. 25.5 kg/m2, p = 0.006), reduced insulin sensitivity (HOMA-IR): 2.7 vs. 1.9, p = 0.018), prolonged E-wave deceleration time (193 vs. 174 cm, p = 0.015), and E/é ratios (5.4 vs. 4.5, p = 0.017), and lower self-reported QoL. Males with CAH had more cognitive complaints (p = 0.034) and higher autistic scores (19.9 vs. 14.9; p = 0.068) compared with male controls. More individuals with CAH than controls reported writing problems. CONCLUSION: A sex-specific comorbidity profile is evident in CAH, with females presenting with decreased metabolic and overall self-reported health, whereas males with CAH presented with increased cognitive complaints and autistic traits.

Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.

Marfan syndrome (MFS) is a complex connective tissue disorder characterized by considerable clinical variability. The diagnosis of MFS is based on the Ghent criteria, which require the presence of both clinical and genetic features. MFS is primarily caused by pathogenic alterations in FBN1, which encodes the fibrillin-1 protein. Fibrillin-1 comprises multiple domains rich in cysteine residues, with disulfide bonds formed between these residues. It has long been recognized that variants that alter or introduce cysteine residues damage protein function, leading to the development of MFS. In this study, we report a cysteine-introducing variant: FBN1 variant, c.6724C>T (p.[Arg2242Cys]). We have observed this variant in several individuals without MFS, challenging our previous understanding of the underlying mechanism of MFS. This finding emphasizes the importance of revisiting and reevaluating our current knowledge in light of new and unexpected observations. Moreover, our study highlights the significance of incorporating local and national data on allele frequencies, as well as employing multidisciplinary phenotyping approaches, in the classification of genetic variants. By considering a wide range of information, we can enhance the accuracy and reliability of variant classification, ultimately improving the diagnosis and management of individuals with genetic disorders like MFS.

Quality of Life in the Danish Fontan Population is Unchanged Over the Past Decade-A Nationwide Longitudinal Study.

Knowledge about health-related quality of life (HRQoL) over time in Fontan patients is sparse. We aimed to describe HRQoL over a ten-year period in a population-based Fontan cohort. Further, we compared HRQoL in Fontan patients with the general population. In 2011, Danish Fontan patients were invited to participate in a nationwide study assessing HRQoL. Depending on age, 152 participants filled out either the Pediatric Quality of Life Inventory or the 36-Item Short Form Health Survey. After a decade, patients from the initial study were invited to participate in a follow-up study. All were given the same questionnaire as in the first study, plus the 12-Item Short Form Health Survey (SF-12) as part of the Danish National Health Survey. HRQoL over time was described, and SF-12 scores were compared with the general population. A total of 109 Fontan patients completed the questionnaires in both studies. The mean patient age was 14.9 ± 6.6 years and 25.6 ± 6.5 years respectively. Despite an increase in complications, HRQoL did not decrease during the study period. Physical HRQoL scores were lower than mental HRQoL scores at both time points. The SF-12 physical component score was significantly lower in Fontan patients than in the general population (median score 52 vs. 56, p < 0.001), while the SF-12 mental component score was comparable (median score 51 vs. 50, p = 0.019). HRQoL remained stable over a ten-year period in a contemporary Danish Fontan cohort. Still, the physical HRQoL remained significantly lower than that of the general population.

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.

The study describes all patients in Denmark with vascular Ehlers-Danlos syndrome (vEDS). Carriers of pathogenic or likely pathogenic COL3A1 variants were retrospectively identified through registries and specialized clinics. Medical records were reviewed for vascular- or organ ruptures and invasive procedures performed. Identified families were divided by variant type (null, splice, and missense) and familial phenotypes (severe or attenuated). Families in which at least one carrier has suffered a major event before the age of 30 were classified as severe, whereas families in which at least three carriers had reached the age of 40 without a major event were classified as attenuated. Eighty-seven persons (59 still alive) from 25 families were included with a mean observation time of 44 years. Sixty-seven percent of patients could be subclassified in a familial phenotype. Thirty-one major events were observed. Eleven complications in 172 invasive procedures were recorded. No fatal complications to elective surgery were observed. The type of COL3A1 variant did not reliably predict phenotype, but a pattern of intrafamilial consistency emerged with some families showing an attenuated form of vEDS. Elective medical procedures appear to be safer than previously thought, although data only allow for conclusions regarding individuals from families with the attenuated form of vEDS.

Length of hospital stay after delivery among Danish women with congenital heart disease: a register-based cohort study.

BACKGROUND: The literature about the impact of congenital heart disease (CHD) on the length of hospital stay after delivery is limited, and nonexisting in a country with free and equal access to healthcare. We aimed to examine the hypothesis that Danish women with CHD have a longer hospital stay after delivery compared to women without CHD. Secondarily, we aimed to examine the hypothesis that cesarean section modifies the association. METHODS: The study was a national cohort study using Danish nationwide registers in 1997-2014. Maternal CHD was categorized as simple, moderate, or complex CHD. The comparison group consisted of women without CHD. Outcome of interest was length of hospital stay after delivery registered in complete days. Mode of delivery was categorized as cesarean section or vaginal delivery. Data was analyzed using a generalized linear model with a Poisson distribution. RESULTS: We included 939,678 births among 551,119 women. Women without CHD were on average admitted to the hospital for 3.6 (SD 3.7) days, whereas women with simple, moderate, and complex CHD were admitted for 3.9 (SD 4.4), 4.0 (SD 3.8) and 5.1 (SD 6.7) days, respectively. The adjusted length of hospital stay after delivery was 12% (relative ratio (RR) = 1.12, 95% confidence interval (CI) 1.07-1.18), 14% (RR = 1.14, 95% CI: 1.07-1.21), and 45% (RR = 1.45, 95% CI: 1.24-1.70) longer among women with simple, moderate, and complex CHD, respectively, compared to women without CHD. The association between maternal CHD and length of hospital stay was not modified by mode of delivery (p-value of interaction = 0.62). Women who gave birth by cesarean section were on average admitted to the hospital for 2.7 days longer compared to women with vaginal delivery. CONCLUSION: The hospital stay after delivery was significantly longer among women with CHD as compared to women without CHD. Further, higher complexity of CHD was associated with longer length of stay. Cesarean section did not modify the association.

Advanced maternal age and risk of adverse perinatal outcome among women with congenital heart disease: A nationwide register-based cohort study.

BACKGROUND: Women with maternal congenital heart disease have a higher risk of preterm birth (PTB) and giving birth to a small for gestational age (SGA) infant. Advanced maternal age (≥35 years) likewise increases the risk of PTB and SGA, probably explained by poorer cardiovascular status. It is likely that advanced maternal age is particularly detrimental in women with congenital heart disease. OBJECTIVES: We aimed to determine whether the pattern of higher risk of PTB and SGA with higher maternal age varied among women with and without congenital heart disease. We hypothesised that the effect of age is higher among women with congenital heart disease. METHODS: We did a cohort study using Danish nationwide registers. Births from 1997 to 2014 were included. Cox regressions were used to estimate hazard ratios (HRs) for PTB and SGA. Universal and congenital heart disease-specific references were used for comparison. RESULTS: We included 932 772 births among 548 314 women. HRs of PTB and SGA were 1.55 (95% confidence interval [CI] 1.37, 1.77) and 1.43 (95% CI 1.29, 1.58) in women with congenital heart disease as compared to women without. For both PTB and SGA, HRs were higher for women ≥35 years as compared to women aged 25-29 years. HRs of PTB and SGA were higher among women with congenital heart disease within all strata of maternal age as compared to women without (eg 3.71, 95% CI 1.80, 7.63 vs 1.63, 95% CI 1.56, 1.70) for SGA for women aged 40-44 years). The pattern of higher risk of PTB and SGA with higher maternal age was, however, similar among women with and without congenital heart disease. CONCLUSIONS: Women with congenital heart disease had a higher risk of PTB and giving birth to an SGA infant at all maternal ages. These two risk factors did not, however, seem to potentiate each other.

A national needs assessment study to determine procedures for simulation-based training in cardiology in Denmark.

OBJECTIVES: New training methods such as simulation have been introduced in cardiology as in other specialties; however, the development of effective simulation-based training programs is challenging. They are often unstructured and based on convenience or coincidence. The objective of this study was to perform a nationwide general needs assessment to identify and prioritize technical procedures that should be included in a simulation-based curriculum for cardiology residency in Denmark. DESIGN: We completed a needs assessment using the Delphi method among key opinion leaders in cardiology. Brainstorming in round 1 identified technical procedures that future cardiologists should learn. Round 2 was a survey to examine frequency of procedure, number of cardiologists performing the procedure, operator-related risk and/or discomfort for patients and feasibility for simulation. Round 3 was final elimination and prioritization of procedures. RESULTS: Ninety-four key opinion leaders were included, and the response rates were 77% (round 1), 62% (Round 2), and 68% (Round 3). Twenty-four technical procedures were identified in Round 1 and pre-prioritized in Round 2. In round 3, 13 procedures were included in the final prioritized list. The five highly prioritized procedures eligible for simulation-based training were advanced life support, pleurocentesis, transesophageal echocardiography, coronary angiography, and pericardiocentesis. CONCLUSION: The general needs assessment following the Delphi process identified and prioritized 13 technical procedures in cardiology that should be integrated in a simulation-based curriculum. The final list provides educators a guide when developing simulation-based training programmes for cardiology residents.

Rupture of an Abdominal Aortic Aneurysm in a Young Man with Marfan Syndrome.

Abdominal aortic aneurysms (AAAs) are very rare in Marfan syndrome. We present a case with a young nonsmoking and normotensive male with Marfan syndrome, who developed an infrarenal AAA that presented with rupture to the retroperitoneal cavity causing life-threatening bleeding shock. The patient had acute aortic surgery and survived. Five months before this incident, the patient had uneventful elective aortic root replacement (ad modum David) due to an enlarged aortic root. At that time, his abdominal aorta was assessed with a routine ultrasound scan that showed a normal-sized abdominal aorta. This documents that the aneurysm had evolved very rapidly despite young age and absence of risk factors.

Pulmonary Valve Replacement in Tetralogy of Fallot: Procedural Volume and Durability of Bioprosthetic Pulmonary Valves.

BACKGROUND: Robust data on changes in pulmonary valve replacement (PVR) procedural volume and predictors of bioprosthetic pulmonary valve (BPV) durability in patients with tetralogy of Fallot (TOF) are scarce. OBJECTIVES: This study sought to assess temporal trends in PVR procedural volume and BPV durability in a nationwide, retrospective TOF cohort. METHODS: Data were obtained from patient records. Robust linear regression was used to assess temporal trends in PVR procedural volume. Piecewise exponential additive mixed models were used to estimate BPV durability, defined as the time from implantation to redo PVR with death as a competing risk, and to assess risk factors for reduced durability. RESULTS: In total, 546 PVR were performed in 384 patients from 1976 to 2021. The annual number of PVR increased from 0.4 to 6.0 per million population (P < 0.001). In the last decade, the transcatheter PVR volume increased by 20% annually (P < 0.001), whereas the surgical PVR volume did not change significantly. The median BPV durability was 17 years (Q1: 10-Q3: 10 years-not applicable). There was no significant difference in the durability of different BPV after adjustment for confounders. Age at PVR (HR: 0.78 per 10 years from <1 year; 95% CI: 0.63-0.96; P = 0.02) and true inner valve diameter (9-17 mm vs 18-22 mm HR: 0.40; 95% CI: 0.22-0.73; P = 0.003 and 18-22 mm vs 23-30 mm HR: 0.59; 95% CI: 0.25-1.39; P = 0.23) were associated with reduced BPV durability in multivariate models. CONCLUSIONS: The PVR procedural volume has increased over time, with a greater increment in transcatheter than surgical PVR during the last decade. Younger patient age at PVR and a smaller true inner valve diameter predicted reduced BPV durability.

Objective structured assessment of technical competence in transthoracic echocardiography: a validity study in a standardised setting.

BACKGROUND: Competence in transthoracic echocardiography (TTE) is unrelated to traditional measures of TTE competence, such as duration of training and number of examinations performed. This study aims to explore aspects of validity of an instrument for structured assessment of echocardiographic technical skills. METHODS: The study included 45 physicians with three different clinical levels of echocardiography competence who all scanned the same healthy male following national guidelines. An expert in echocardiography (OG) evaluated all the recorded, de-identified TTE images blindly using the developed instrument for assessment of TTE technical skills. The instrument consisted of both a global rating scale and a procedure specific checklist. Two scores were calculated for each examination: A global rating score and a total checklist score. OG rated ten examinations twice for intra-rater reliability, and another expert rated the same ten examinations for inter-rater reliability. A small pilot study was then performed with focus on content validity. This pilot study included nine physicians who scanned three patients with different pathologies as well as different technical difficulties. RESULTS: Validity of the TTE technical skills assessment instrument was supported by a significant correlation found between level of expertise and both the global score (Spearman 0.76, p<0.0001) and the checklist score (Spearman 0.74, p<0.001). Both scores were able to distinguish between the three levels of competence that were represented in the physician group. Reliability was supported by acceptable inter- and intra-rater values. The pilot study showed a tendency to improved scores with increasing expertise levels, suggesting that the instrument could also be used when pathologies were present. CONCLUSIONS: We designed and developed a structured assessment instrument of echocardiographic technical skills that showed evidence of validity in terms of high correlations between test scores on a normal person and the level of physician competence, as well as acceptable inter- and intra-rater reliability scores. Further studies should, however, be performed to determine the adequate number of assessments needed to ensure high content validity and reliability in a clinical setting.

Exercise capacity in the Danish Fontan population remains stable after ten years of follow-up - is physical activity the key to success?

BACKGROUND: Most Fontan patients have impaired exercise capacity, and a further decline in exercise capacity over time seems inevitable. However, few longitudinal studies exist, and there is a lack of data from newer eras. We aimed to describe the natural evolution of exercise capacity over a 10-year period in a contemporary, population-based cohort of Danish Fontan patients. METHODS: The study was a nationwide, prospective study. A cardiopulmonary exercise test (CPET) was used to assess the exercise capacity. All Danish Fontan patients who participated in a national study in 2011 (CPET1), were invited to a follow-up visit in 2021 (CPET2). All patients who completed CPET1 and CPET2 with a respiratory exchange ratio over 1.0 were included. The main outcome was percent predicted VO2peak (%pred VO2peak). At the time of CPET2, patients filled out a questionnaire including questions regarding physical activity. RESULTS: Seventy-seven patients completed both CPET1 and CPET2, and seventy patients completed the questionnaire. The time interval between the two CPETs was 10.4 ± 0.9 years. The median age was 15 years at CPET1 and 26 years at CPET2. The exercise capacity remained stable with a mean %pred VO2peak of 53.8 ± 11.3 at CPET1 and 55.6 ± 10.9 in CPET2 (p = 0.314). Higher levels of vigorous physical activity were associated with higher %pred VO2peak in CPET2 in a multivariate regression model. CONCLUSION: The %pred VO2peak remained stable over a ten-year period in this population-based Fontan cohort. Higher levels of self-reported vigorous physical activity were associated with higher %pred VO2peak in the most recent CPET.

Temporal changes in the surgical management of patients with tetralogy of Fallot in Denmark: a nationwide cohort study.

OBJECTIVES: To assess temporal changes in the surgical management of patients with tetralogy of Fallot including the timing of interventions, surgical techniques, reinterventions and survival in a nationwide cohort. METHODS: Patients with tetralogy of Fallot in Denmark were divided into 3 eras based on their year of birth: early (1977-1991), intermediate (1992-2006) and late (2007-2021). RESULTS: The cohort consisted of 745 patients. Median follow-up was 21.2 years (13.7-30.5). There was a temporal trend towards less shunt palliation (-0.3% per year, 95% CI -0.05 to -0.1). Median age at intracardiac repair was 2.9 years (1.8-5.0), 0.8 years (0.5-1.3) and 0.5 years (0.4-0.7) (P < 0.001) in the early, intermediate and late era, respectively. There was a temporal trend towards less valve-sparing repair (-0.7% per year, 95% CI -0.5 to -1.0) and more repair with transannular patches (0.7% per year, 95% CI 0.5-1.0). Survival at 10 years was 79% (64-76), 90% (87-93) and 95% (92-98) (P < 0.001) and pulmonary valve replacement within the first 10 years after intracardiac repair was performed in 3% (1-6), 12% (8-16) and 21% (13-29) (P < 0.001) in the early, intermediate and late era, respectively. CONCLUSIONS: There was a temporal trend towards less shunt palliation and intracardiac repair at a younger age with more use of transannular patches. While survival throughout childhood and adolescence has improved, more patients undergo pulmonary valve replacement during the first 10 years after intracardiac repair.

The relationship between immediate relevant basic science knowledge and clinical knowledge: physiology knowledge and transthoracic echocardiography image interpretation.

Two major views on the relationship between basic science knowledge and clinical knowledge stand out; the Two-world view seeing basic science and clinical science as two separate knowledge bases and the encapsulated knowledge view stating that basic science knowledge plays an overt role being encapsulated in the clinical knowledge. However, resent research has implied that a more complex relationship between the two knowledge bases exists. In this study, we explore the relationship between immediate relevant basic science (physiology) and clinical knowledge within a specific domain of medicine (echocardiography). Twenty eight medical students in their 3rd year and 45 physicians (15 interns, 15 cardiology residents and 15 cardiology consultants) took a multiple-choice test of physiology knowledge. The physicians also viewed images of a transthoracic echocardiography (TTE) examination and completed a checklist of possible pathologies found. A total score for each participant was calculated for the physiology test, and for all physicians also for the TTE checklist. Consultants scored significantly higher on the physiology test than did medical students and interns. A significant correlation between physiology test scores and TTE checklist scores was found for the cardiology residents only. Basic science knowledge of immediate relevance for daily clinical work expands with increased work experience within a specific domain. Consultants showed no relationship between physiology knowledge and TTE interpretation indicating that experts do not use basic science knowledge in routine daily practice, but knowledge of immediate relevance remains ready for use.

Limited intervention improves technical skill in focus assessed transthoracic echocardiography among novice examiners.

BACKGROUND: Previous studies addressing teaching and learning in point-of-care ultrasound have primarily focussed on image interpretation and not on the technical quality of the images. We hypothesized that a limited intervention of 10 supervised examinations would improve the technical skills in Focus Assessed Transthoracic Echocardiography (FATE) and that physicians with no experience in FATE would quickly adopt technical skills allowing for image quality suitable for interpretation. METHODS: Twenty-one physicians with no previous training in FATE or echocardiography (Novices) participated in the study and a reference group of three examiners with more than 10 years of experience in echocardiography (Experts) was included. Novices received an initial theoretical and practical introduction (2 hours), after which baseline examinations were performed on two healthy volunteers. Subsequently all physicians were scheduled to a separate intervention day comprising ten supervised FATE examinations. For effect measurement a second examination (evaluation) of the same two healthy volunteers from the baseline examination was performed. RESULTS: At baseline 86% of images obtained by novices were suitable for interpretation, on evaluation this was 93% (p = 0.005). 100% of images obtained by experts were suitable for interpretation. Mean global image rating on baseline examinations was 70.2 (CI 68.0-72.4) and mean global image rating after intervention was 75.0 (CI 72.9-77.0), p = 0.0002. In comparison, mean global image rating in the expert group was 89.8 (CI 88.8-90.9). CONCLUSIONS: Improvement of technical skills in FATE can be achieved with a limited intervention and upon completion of intervention 93% of images achieved are suitable for clinical interpretation.

Long-Term Cardiovascular Health After Pregnancy in Danish Women With Congenital Heart Disease. A Register-Based Cohort Study Between 1993 and 2016.

Background Little is known about the impact of pregnancy on long-term cardiovascular health in individuals with congenital heart disease (CHD). We aimed to determine if giving birth in patients with CHD is associated with higher risk of long-term cardiovascular morbidity. Methods and Results We studied a cohort of 1262 individuals with CHD giving birth (live or still) from 1993 to 2015 using Danish nationwide registers. We randomly sampled a comparison cohort matched on age of women with CHD who had not given birth at the time. We balanced the 2 cohorts on baseline demographic (eg, education) and clinical variables (eg, CHD severity) using inverse probability of treatment weighting. Individuals were followed for critical (eg, heart failure), other cardiovascular morbidity (eg, arrhythmia), and cardiac surgery/interventions after pregnancy. Individuals were followed for median 6.0 years (interquartile range 3.2-9.2). Among individuals giving birth the incidence rate per 1000 person-years was 1.6, 10.0, and 6.0 for critical and other cardiovascular morbidity and cardiac surgery, respectively. There was no overall difference in risk of neither critical and other cardiovascular morbidity nor cardiac surgery among individuals who gave birth and individuals who did not; adjusted hazard ratios (aHR) were 0.74 (95% CI, 0.37-1.48), 0.88 (95% CI, 0.65-1.19), and 0.78 (95% C,I 0.54-1.12), respectively. However, individuals with obstetric complications had a higher long-term risk of other cardiovascular morbidity (aHR, 1.85; 95% CI, 1.07-3.20). Conclusions Giving birth seemed not to be associated with a higher risk of long-term cardiovascular morbidity among women with CHD. However, individuals having obstetric complications had a higher risk of other cardiovascular morbidity in the long term.

Medical graduates feel well-prepared for clinical work.

INTRODUCTION: The purpose of this study was to assess the coherence between the undergraduate medical program at Aarhus University and the foundation year. MATERIAL AND METHODS: This cross-sectional questionnaire survey included 503 doctors graduated from Aarhus University from the winter of 2007/2008 to the summer of 2009. RESULTS: The response rate was 73%. Approximately 73% of the respondents were in their foundation year or their first year of specialist training and 83% generally felt well-prepared. Respondents found that most of the learning outcomes of the undergraduate medical curriculum at Aarhus University are important for junior doctors. More than 90% of the respondents estimated that they were sufficiently prepared when it came to core outcomes such as history taking and physical examination. Five issues diverged considerably in importance stated and preparedness experienced: suggestion of diagnoses, initiation of treatment, pharmacotherapy, handling of own emotions and structuring of own learning. Also, 40% stated that their clerkships had only had little value in preparing them for their foundation year. CONCLUSION: Overall, graduates felt well-prepared and characterized the education coherent. However, the study raises major questions concerning clerkships and competence in treatments, pharmacotherapy and the more personal aspects of professionalism. FUNDING: not relevant. TRIAL REGISTRATION: not relevant.

Neonatal Risk in Children of Women With Congenital Heart Disease: A Cohort Study With Focus on Socioeconomic Status.

Background We hypothesized that women with congenital heart disease (CHD) are at increased risk of giving birth preterm, including very and moderately preterm and giving birth to infants small for gestational age (SGA). We aimed to investigate this in a nation-wide study with focus on the potential modifying effect of socioeconomic status. Methods and Results We performed a cohort study using Danish nation-wide registers between 1997 and 2014. The exposure, maternal CHD, was subdivided into simple, moderate and complex based on severity of defects. Outcomes were preterm birth and SGA. Cox regression was used to estimate hazard ratios (HR). A total of 933 149 births including 3745 births among women with CHD were studied. The risk of giving birth preterm and SGA were higher among women with CHD as compared with women without CHD; for example, adjusted hazard ratios of preterm birth according to severity: simple 1.33 (95% CI, 1.11-1.59), moderate 1.45 (95% CI, 1.14-1.83) and complex 3.26 (95% CI, 2.41-4.40). Same pattern was seen for very and moderately preterm births and SGA. Education was a strong predictor of both preterm birth and SGA but did not modify the association between maternal congenital heart disease and preterm birth (P=0.38) or SGA (P=0.99). Conclusions Women with CHD were at increased risk of preterm birth both, moderately and very preterm, as well as giving birth to infants SGA. Education was a strong predictor of both preterm birth and SGA but the association between CHD and risk of preterm birth and SGA was independent of educational level.

[Diagnosis, monitoring and treatment of tuberous sclerosis complex].

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with highly varying disease manifestations, many of which cause extensive morbidity. There are international consensus criteria for the diagnosis, monitoring and treatment of TSC, and approved medical treatment for some of the most serious disease manifestations. However, organisation of a rational and coordinated care of TSC patients involves many different medical specialities and is only sparsely described. This review describes the interdisciplinary care of TSC patients at Aarhus University Hospital, Denmark.

Prolonged QT interval and cardiac arrest after a single dose of amiodarone in a woman with Turner's syndrome.

Low-dose QT-prolonging drugs may have detrimental effects on women with Turner's syndrome. Preventive measures would be to use potential QT-prolonging drugs with precaution and ensure that both before and during treatment, ECGs are evaluated and drug treatment stopped if the QT interval increases.

[Consensus on national criteria for transthoracic echocardiography competence]. / National konsensus om krav til kompetenceniveau i transtorakal ekkokardiografi.

Standardised competence assessment in transthoracic echocardiography (TTE) is increasingly demanded. Danish Cardiology Society working group on echocardiography initiated a Delphi study among departments involved in resident TTE training to obtain consensus on national criteria for TTE competence. Consensus was obtained on a list of 21 items relevant for TTE competence assessment. Three items should be performed with great routine after two years and 16 items after five years of training. The working group recommends the list being used for competence assessment of cardiology residents.