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Sörensen, Karen
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Publications (3 of 3) Show all publications
Hannuksela, M., Stattin, E.-L., Klar, J., Ameur, A., Johansson, B., Sorensen, K. & Carlberg, B. (2016). A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description. BMC Medical Genetics, 17, Article ID 61.
Open this publication in new window or tab >>A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description
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2016 (English)In: BMC Medical Genetics, ISSN 1471-2350, E-ISSN 1471-2350, Vol. 17, article id 61Article in journal (Refereed) Published
Abstract [en]

Background: Mutations in MYLK cause non- syndromic familial thoracic aortic aneurysms and dissections (FTAAD). Very little is known about the phenotype of affected families. We sought to characterize the aortic disease and the presence of other vascular abnormalities in FTAAD caused by a deletion in MYLK and to compare thoracic aortic diameter and stiffness in mutation carriers and non-carriers.

Methods: We studied FTAAD in a 5-generation family that included 19 living members. Exome sequencing was performed to identify the underlying gene defect. Aortic elastic properties measured by TTE, MRI and pulse wave velocity were then compared between mutation carriers and non-carriers.

Results: Exome sequencing led to the identification of a 2-bp deletion in MYLK (c3272_ 3273del, p. Ser1091*) that led to a premature stop codon and nonsense-mediated decay. Eleven people were mutation carriers and eight people were non-carriers. Five aortic ruptures or dissections occurred in this family, with two survivors. There were no differences in aortic diameter or stiffness between carriers and non-carriers of the mutation.

Conclusions: Individuals carrying this deletion in MYLK have a high risk of presenting with an acute aortic dissection or rupture. Aortic events occur over a wide range of ages and are not always preceded by obvious aortic dilatation. Aortic elastic properties do not differ between carriers and non-carriers of this mutation, rendering it uncertain whether and when carriers should undergo elective prophylactic surgery.

Keywords
Thoracic aorta, Aortic dissection, Gene mutation, MYLK
National Category
Genetics
Identifiers
urn:nbn:se:umu:diva-126499 (URN)10.1186/s12881-016-0326-y (DOI)000383335100001 ()27586135 (PubMedID)
Available from: 2016-10-27 Created: 2016-10-10 Last updated: 2018-06-09Bibliographically approved
Henein, M., Hällgren, P., Holmgren, A., Sörensen, K., Ibrahimi, P., Kofoed, K. F., . . . Hassager, C. (2015). Aortic root, not valve, calcification correlates with coronary artery calcification in patients with severe aortic stenosis: a two-center study. Atherosclerosis, 243(2), 631-637
Open this publication in new window or tab >>Aortic root, not valve, calcification correlates with coronary artery calcification in patients with severe aortic stenosis: a two-center study
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2015 (English)In: Atherosclerosis, ISSN 0021-9150, E-ISSN 1879-1484, Vol. 243, no 2, p. 631-637Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: The underlying pathology in aortic stenosis (AS) and coronary artery stenosis (CAS) is similar including atherosclerosis and calcification. We hypothesize that coronary artery calcification (CAC) is likely to correlate with aortic root calcification (ARC) rather than with aortic valve calcification (AVC), due to tissue similarity between the two types of vessel rather than with the valve leaflet tissue.

MATERIAL AND METHODS: We studied 212 consecutive patients (age 72.5 ± 7.9 years, 91 females) with AS requiring aortic valve replacement (AVR) in two Heart Centers, who underwent multidetector cardiac CT preoperatively. CAC, AVC and ARC were quantified using Agatston scoring. Correlations were tested by Spearman's test and Mann-Whitney U-test was used for comparing different subgroups; bicuspid (BAV) vs tricuspid (TAV) aortic valve.

RESULTS: CAC was present in 92%, AVC in 100% and ARC in 82% of patients. CAC correlated with ARC (rho = 0.51, p < 0.001) but not with AVC. The number of calcified coronary arteries correlated with ARC (rho = 0.45, p < 0.001) but not with AVC. 29/152 patients had echocardiographic evidence of BAV and 123 TAV, who were older (p < 0.001) but CAC was associated with TAV even after adjusting for age (p = 0.01). AVC score was associated with BAV after adjusting for age (p = 0.03) but ARC was not. Of the total cohort, 82 patients (39%) had significant coronary stenosis (>50%), but these were not different in the pattern of calcification from those without CAS. CAC was consistently higher in patients with risk factors for atherosclerosis compared to those without.

CONCLUSION: The observed relationship between coronary and aortic root calcification suggests a diffuse arterial disease. The lack of relationship between coronary and aortic valve calcification suggests a different pathology.

Place, publisher, year, edition, pages
Elsevier, 2015
Keywords
coronary artery calcification, family history of premature coronary heart disease, Parents, Siblings, ronary calcium score
National Category
Cardiac and Cardiovascular Systems
Research subject
Medicine, cardiovascular disease
Identifiers
urn:nbn:se:umu:diva-112216 (URN)10.1016/j.atherosclerosis.2015.10.014 (DOI)000366534100041 ()26551591 (PubMedID)
Available from: 2015-12-04 Created: 2015-12-04 Last updated: 2018-06-07Bibliographically approved
Rasmuson, J., Lindqvist, P., Sörensen, K., Hedström, M., Blomberg, A. & Ahlm, C. (2013). Cardiopulmonary involvement in Puumala hantavirus infection. BMC Infectious Diseases, 13(1), 501
Open this publication in new window or tab >>Cardiopulmonary involvement in Puumala hantavirus infection
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2013 (English)In: BMC Infectious Diseases, ISSN 1471-2334, E-ISSN 1471-2334, Vol. 13, no 1, p. 501-Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Hantavirus infections cause potentially life-threatening disease in humans world-wide. Infections with American hantaviruses may lead to hantavirus pulmonary syndrome characterised by severe cardiopulmonary distress with high mortality. Pulmonary involvement in European Puumala hantavirus (PUUV) infection has been reported, whereas knowledge of potential cardiac manifestations is limited. We aimed to comprehensively investigate cardiopulmonary involvement in patients with PUUV-infection.

METHODS: Twenty-seven hospitalised patients with PUUV-infection were examined with lung function tests, chest high-resolution CT (HRCT), echocardiography including speckle tracking strain rate analysis, ECG and measurements of cardiac biomarkers N-terminal pro-B-type natriuretic peptide (NT-ProBNP) and troponin T. Patients were re-evaluated after 3 months. Twenty-five age and sex-matched volunteers acted as controls for echocardiography data.

RESULTS: Two-thirds of the patients experienced respiratory symptoms as dry cough or dyspnoea. Gas diffusing capacity was impaired in most patients, significantly improving at follow-up but still subnormal in 38%. HRCT showed thoracic effusions or pulmonary oedema in 46% of the patients. Compared to controls, the main echocardiographic findings in patients during the acute phase were significantly higher pulmonary vascular resistance, higher systolic pulmonary artery pressure, lower left ventricular ejection fraction and impaired left atrial myocardial motion. Pathological ECG, atrial fibrillation or T-wave changes, was demonstrated in 26% of patients. NT-ProBNP concentrations were markedly increased and were inversely associated with gas diffusing capacity but positively correlated to pulmonary vascular resistance. Furthermore, patients experiencing impaired general condition at follow-up had significantly lower gas diffusing capacity and higher pulmonary vascular resistance, compared to those feeling fully recovered.

CONCLUSIONS: In a majority of patients with PUUV-infection, both cardiac and pulmonary involvement was demonstrated with implications on patients' recovery. The results demonstrate vascular leakage in the lungs that most likely is responsible for impaired gas diffusing capacity and increased pulmonary vascular resistance with secondary pulmonary hypertension and right heart distress. Interestingly, NT-ProBNP was markedly elevated even in the absence of overt ventricular heart failure. The method of simultaneous investigations of important cardiac and respiratory measurements improves the interpretation of the underlying pathophysiologic mechanisms.

Place, publisher, year, edition, pages
BioMed Central, 2013
National Category
Infectious Medicine
Identifiers
urn:nbn:se:umu:diva-83698 (URN)10.1186/1471-2334-13-501 (DOI)000328902800001 ()24160911 (PubMedID)
Available from: 2013-12-04 Created: 2013-12-04 Last updated: 2018-06-08Bibliographically approved
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