Reduced left ventricular function and sustained hypertension in women seven years after severe preeclampsia.

Objective. To study left ventricular (LV) function and blood pressure (BP) at a long-term follow-up in women after severe pre-eclampsia. Design. In this single-centre, cross-sectional study, 96 patients were eligible for inclusion. LV function was examined by transthoracic echocardiography including tissue Doppler echocardiography and speckle tracking. BP was measured at rest using repeated non-invasive techniques. Results. We compared 36 patients with early-onset and 33 patients with late-onset pre-eclampsia with 28 healthy controls. Mean age (40 ± 3 years) and median time since delivery (7 ± 2 years) were similar across the study groups. The patients had 18% higher systolic BP (139 ± 15 mmHg) and 24% higher diastolic BP (87 ± 19 mmHg) than controls (p < .01). Hypertension was present in 23 patients (33%), where the estimated LV mass was 16% higher (p = .05) than in controls. The LV ejection fraction was 19% lower in the early-onset group (51 ± 4%; p = .01) and 14% lower in the late-onset group (54 ± 6; p = .04) compared with controls. LV global longitudinal strain was 18% lower in the patient group (-17.7 ± 2.1%) compared with controls (p = .01). Indicative of a more restrictive filling pattern, the diastolic indices showed a lower e' mean (p < .01) and subsequently higher E/e' ratio (p < .01). There were no significant differences in BP, systolic or diastolic function indices between the patient groups. Conclusion. We found sustained hypertension, higher LV mass and reduced LV systolic and diastolic function 7 y after severe pre-eclampsia. Our findings emphasize the importance of early risk stratification and clinical counselling, and follow-up for such cases.

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.

BACKGROUND: Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type is caused by mutations in the gene that encodes the connective tissue protein, filamin B (FLNB). Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by arterial aneurysms, dissections and tortuosity, and skeletal, including craniofacial, manifestations. Mutations in five genes involved in the transforming growth factor beta (TGF-ß) signaling pathway cause five types of LDS. Stickler syndrome is a genetically heterogeneous arthro-ophthalmopathy caused by defects in collagen, exhibiting a wide specter of manifestations in connective tissue. A rare case is reported that was diagnosed with all these three hereditary connective tissue disorders. CASE PRESENTATION: A 19 year-old, Norwegian male with a clinical diagnosis of Larsen syndrome and with healthy, non-consanguineous parents attended a reference center for rare connective tissue disorders. Findings at birth were hypotonia, joint hypermobility, hyperextended knees, adductovarus of the feet, cervical kyphosis, craniofacial abnormalities, and an umbilical hernia. From toddlerhood, he required a hearing aid due to combined conductive and sensorineural hearing loss. Eye examination revealed hyperopia, astigmatism, and exotropia. At 10 years of age, he underwent emergency surgery for rupture of an ascending aortic aneurysm. At 19 years of age, a diagnostic re-evaluation was prompted by the findings of more distal aortic dilation, tortuosity of precerebral arteries, and skeletal findings. High throughput sequencing of 34 genes for hereditary connective tissue disorders did not identify any mutation in FLNB, but did identify a de novo missense mutation in TGFBR2 and a nonsense mutation in COL2A1 that was also present in his unaffected father. The diagnosis was revised to LDS Type 2. The patient also fulfills the proposed criteria for Stickler syndrome with bifid uvula, hearing loss, and a known mutation in COL2A1. CONCLUSION: LDS should be considered in patients with a clinical diagnosis of Larsen syndrome, in particular in the presence of arterial aneurysms or tortuosity. Due to genetic heterogeneity and extensive overlap of clinical manifestations, genetic high throughput sequencing analysis is particularly useful for the differential diagnosis of hereditary connective tissue disorders.

Altered maternal left ventricular contractility and function during normal pregnancy.

OBJECTIVES: To evaluate maternal left ventricular (LV) systolic and diastolic function during normal pregnancy by non-invasive measures of LV contractility incorporating loading conditions. METHODS: Sixty-five women were examined using echocardiography, including tissue Doppler and two-dimensional speckle tracking, and subclavian artery pulse trace recordings at gestational weeks 14-16, 22-24 and 36, and at 6 months postpartum. RESULTS: The mean ± SD age of the women was 32.0 ± 4.6 years. Cardiac output and LV end-diastolic volume were on average 20% and 23% higher, respectively, during pregnancy, compared to that at 6 months postpartum (both, P < 0.01). LV ejection fraction, global peak systolic strain and rate-corrected LV velocity of circumferential fiber shortening (Vcfc) were 11%, 6% and 6% lower, respectively, at 36 weeks' gestation compared to at 6 months postpartum (all, P < 0.01). Afterload, measured as LV end-systolic wall stress (ESWS) increased by 10% between 14-16 and 36 weeks' gestation (P < 0.01). Analysis of the relationship between Vcfc and ESWS revealed that LV contractility was lower during pregnancy than at 6 months postpartum. Changes in diastolic function were demonstrated by 11% lower mitral early diastolic (E) wave velocity, 8% lower tissue Doppler early diastolic velocity (e') and 13% higher left atrial area (all P < 0.01) during pregnancy. Tissue Doppler E/e' remained unaltered (P = 0.78). CONCLUSIONS: During normal pregnancy, LV contractility is lower than it is at 6 months postpartum. This is associated with increased LV and left atrial area, whereas filling pressures are unchanged. These findings suggest that pregnancy exerts a larger load on the cardiovascular system than previously assumed.

Changes in pulmonary function during pregnancy: a longitudinal cohort study.

OBJECTIVE: To record any physiological changes in lung function during healthy pregnancies, and evaluate the influence of parity, pregestational overweight, and excessive weight gain. DESIGN: Longitudinal cohort study. SETTING: Antenatal clinic at Oslo University Hospital. POPULATION: One hundred healthy white women with singleton pregnancies. METHODS: The women were studied with repeated measures of lung function using spirometry at a gestational age of 14-16, 22-24, 30-32, and 36 weeks, and at 6 months postpartum. MAIN OUTCOME MEASURES: Forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), and peak expiratory flow (PEF), also expressed as a percentage of predicted values according to age and height: i.e. FVC%, FEV1%, and PEF%. RESULTS: Both FVC and FVC% increased significantly after 14-16 weeks of gestation (P=0.001), as was the case for both PEF and PEF% (P<0.001). FVC, FVC%, PEF, and PEF% in early and mid-pregnancy were significantly lower compared with the postpartum value (all P<0.05). Nulliparous women had an overall 4.4% lower value of FVC% than parous women (P=0.039). There were no differences in FVC, FEV1, or PEF dependent upon pregestational overweight or excessive weight gain. CONCLUSIONS: Forced vital capacity (FVC) increases significantly after 14-16 weeks of gestation. The FVC% is significantly higher in parous compared with primigravida women, suggesting that the changes in FVC occurring during pregnancy persist postpartum. PEF increases significantly during healthy pregnancies, and should be interpreted cautiously in pregnant women with impaired lung function.