Publications by authors named "Jan J Aalberts"

10 Publications

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Doppler gradients, valve area and ventricular function in pregnant women with aortic or pulmonary valve disease: Left versus right.

Int J Cardiol 2020 05 16;306:152-157. Epub 2019 Nov 16.

Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address:

Objective: Little is known about the course of echocardiographic parameters used for the evaluation of valvular heart disease (VHD) during pregnancy, hampering interpretation of possible changes (physiological vs. pathophysiological). Therefore we studied the course of these parameters and ventricular function in pregnant women with aortic and pulmonary VHD.

Methods: The cohort comprised 66 pregnant women enrolled in the prospective ZAHARA studies or evaluated by an identical protocol who had pulmonary VHD or aortic VHD (stenosis/prosthetic valve). The control group comprised 46 healthy pregnant women. Echocardiography was performed preconception, during pregnancy and 1 year postpartum. Peak gradient, mean gradient, aortic valve area (AVA)/effective orifice area (EOA), left ventricular ejection fraction (LVEF) and right ventricular function (RVF; TAPSE) were assessed.

Results: Peak and mean gradients increased during pregnancy compared to preconception in women with aortic VHD and controls (p < 0.0125), but not in women with pulmonary VHD. AVA/EOA remained unchanged. Preconception and postpartum gradients were comparable in all groups. Mean LVEF was normal in pregnant women with VHD and controls. Mean TAPSE was lower (p < 0.001) in women with pulmonary VHD compared to women with aortic VHD and controls (<20 mm vs. ≥23 mm; p < 0.001). In women with pulmonary VHD a decrease of TAPSE was observed during pregnancy (p = 0.005).

Conclusion: Physiological changes during pregnancy lead to increased Doppler gradients in women with aortic VHD. This increase was not found in women with pulmonary VHD, probably caused by impaired RVF. Therefore, evaluation of RVF during pregnancy might be important to prevent underestimation of the degree of stenosis.
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http://dx.doi.org/10.1016/j.ijcard.2019.11.118DOI Listing
May 2020

Left coronary artery anomaly: a case report of a hypoplastic and anomalous origin from the left ventricular outflow tract.

Eur Heart J Case Rep 2019 Jun;3(2)

Department of Cardiology, University Medical Center Groningen, University of Groningen, RB Groningen, The Netherlands.

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http://dx.doi.org/10.1093/ehjcr/ytz084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6601235PMC
June 2019

Efficacy and safety of direct oral anticoagulants during pregnancy; a systematic literature review.

Thromb Res 2018 09 19;169:123-127. Epub 2018 Jul 19.

Department of Cardiology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands.

Introduction: Direct oral anticoagulants (DOACs) are increasingly used for anticoagulation or prevention of thromboembolic events in conditions that may co-occur with pregnancy. However, evidence regarding efficacy and safety during pregnancy is scarce.

Aim: To review the current literature concerning the efficacy, safety and outcome of DOACs during pregnancy in humans.

Methods: We systematically searched the MedLine public database for all studies describing the use of DOACs during pregnancy published up to July 4th 2017.

Results: 236 cases of DOAC use during pregnancy were reported. Rivaroxaban was the most reported DOAC (n = 178). DOACs were mostly used for prophylaxis or treatment of venous thromboembolism (n = 91). DOACs were discontinued within the first 2 months of pregnancy in 84%, maximum reported duration of use was 26 weeks. Pregnancy outcome data were available for 140 pregnancies. Thirty-nine pregnancies were electively terminated. In the remaining 101 pregnancies total miscarriage rate was 31% (n = 31) and live birth rate was 68% (n = 69, 1 missing). Foetal and neonatal abnormalities were reported in 8 pregnancies, of which at least half were suspected to be related to rivaroxaban use during the 1st trimester of pregnancy. In only 18% of cases (n = 42), the presence or absence of thrombotic and bleeding complications was reported.

Conclusion: The limited available evidence raises concern regarding embryo-foetal safety, with high incidence of miscarriages and a 4% rate of anomalies with the use of rivaroxaban. Not enough data are available to judge safety and efficacy of the use of DOACs during pregnancy.
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http://dx.doi.org/10.1016/j.thromres.2018.07.022DOI Listing
September 2018

Mechanical circulatory support for refractory cardiogenic shock in Takotsubo syndrome: a case report and review of the literature.

Eur Heart J Case Rep 2017 Aug 13;1(1):ytx005. Epub 2017 Oct 13.

Department of Cardiology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, RB Groningen, The Netherlands.

Takotsubo syndrome (TTS) complicated by refractory cardiogenic shock is a challenging clinical problem, as treatment with inotropic agents and/or vasopressors is contraindicated. We illustrate this by a patient presenting with chest pain and shortness of breath caused by TTS complicated by cardiogenic shock requiring mechanical circulatory support (MCS). The patient received central extracorporeal life support with a cannula in the left atrium (pre-load reduction of left ventricle) and the return cannula in the ascending aorta (neutral on afterload). Treatment with MCS was complicated by a cardiac tamponade. Left ventricular function recovered after 24 h, and the patient was doing well at the outpatient clinic 7 weeks after discharge. In addition, we reviewed the literature (PubMed search) reporting on MCS in patients with TTS. Including our patient, 17 cases of TTS induced cardiogenic shock receiving MCS have been reported. Age of the patients ranged from 16 years to 74 years, and 71% of the patients were female. Extracorporeal life support was the most used type of MCS (82% of the cases). Two patients died, and complications of MCS were rare (one case of leg ischaemia). Theoretically, MCS devices that reduce pre-load and are neutral on afterload are preferable. However, no specific type of MCS can be recommended as randomized trials are lacking. In conclusion, our case and the available literature suggests that MCS in TTS induced refractory cardiogenic shock is an immediate and feasible lifesaving treatment.
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http://dx.doi.org/10.1093/ehjcr/ytx005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176877PMC
August 2017

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.

Eur Heart J 2018 04;39(15):1269-1277

l'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.

Aims: Filamin-A (FLNA) was identified as the first gene of non-syndromic mitral valve dystrophy (FLNA-MVD). We aimed to assess the phenotype of FLNA-MVD and its impact on prognosis.

Methods And Results: We investigated the disease in 246 subjects (72 mutated) from four FLNA-MVD families harbouring three different FLNA mutations. Phenotype was characterized by a comprehensive echocardiography focusing on mitral valve apparatus in comparison with control relatives. In this X-linked disease valves lesions were severe in men and moderate in women. Most men had classical features of mitral valve prolapse (MVP), but without chordal rupture. By contrast to regular MVP, mitral leaflet motion was clearly restricted in diastole and papillary muscles position was closer to mitral annulus. Valvular abnormalities were similar in the four families, in adults and young patients from early childhood suggestive of a developmental disease. In addition, mitral valve lesions worsened over time as encountered in degenerative conditions. Polyvalvular involvement was frequent in males and non-diagnostic forms frequent in females. Overall survival was moderately impaired in men (P = 0.011). Cardiac surgery rate (mainly valvular) was increased (33.3 ± 9.8 vs. 5.0 ± 4.9%, P < 0.0001; hazard ratio 10.5 [95% confidence interval: 2.9-37.9]) owing mainly to a lifetime increased risk in men (76.8 ± 14.1 vs. 9.1 ± 8.7%, P < 0.0001).

Conclusion: FLNA-MVD is a developmental and degenerative disease with complex phenotypic expression which can influence patient management. FLNA-MVD has unique features with both MVP and paradoxical restricted motion in diastole, sub-valvular mitral apparatus impairment and polyvalvular lesions in males. FLNA-MVD conveys a substantial lifetime risk of valve surgery in men.
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http://dx.doi.org/10.1093/eurheartj/ehx505DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5905589PMC
April 2018

Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.

Am J Med Genet A 2014 Jan 15;164A(1):113-9. Epub 2013 Nov 15.

Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

So far only mutations in the filamin A gene (FLNA) have been identified as causing familial mitral valve prolapse (MVP). Previous studies have linked dysregulation of the transforming growth factor beta (TGF-β) cytokine family to MVP. We investigated whether mutations in the TGF-β receptors genes type I (TGFBR1) and II (TGFBR2) underlie isolated familial MVP cases. Eight families with isolated familial MVP were evaluated clinically and genetically. Ventricular arrhythmias were present in five of the eight families and sudden cardiac death occurred in six patients. Tissue obtained during mitral valve surgery or autopsy was available for histological examination in six cases; all demonstrated myxomatous degeneration. A previously described FLNA missense mutation (p.G288R) was identified in one large family, but no mutations were discovered in TGFBR1 or TGFBR2. An FLNA missense mutation was identified in one family but we found no TGFBR1 or TGFBR2 mutations. Our results suggest that TGFBR1 and TGFBR2 mutations do not play a major role in isolated myxomatous valve dystrophy. Screening for FLNA mutations is recommended in familial myxomatous valvular dystrophy, particularly if X-linked inheritance is suspected.
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http://dx.doi.org/10.1002/ajmg.a.36211DOI Listing
January 2014

Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.

Gene 2014 Jan 24;534(1):40-3. Epub 2013 Oct 24.

Department of Cardiology, University Medical Center Groningen, Groningen. Electronic address:

Cardiovascular manifestations in patients with Marfan syndrome (MFS) are related to aortic and valvular abnormalities. However, dilatation of the left ventricle (LV) can occur, even in the absence of aortic surgery or valvular abnormalities. We evaluated genetic characteristics of patients with MFS with LV dilatation. One hundred eighty-two patients fulfilling the MFS criteria, without valvular abnormalities or previous aortic surgery, with a complete FBN1 analysis, were studied. FBN1 mutations were identified in over 81% of patients. Twenty-nine patients (16%) demonstrated LV dilatation (LV end diastolic diameter corrected for age and body surface area >112%). FBN1-positive patients carrying a non-missense mutation more often had LV dilatation than missense mutation carriers (14/74 versus 5/75; p<0.05). Finally, FBN1-negative MFS patients significantly more often demonstrated LV dilatation than FBN1-positive patients (10/33 versus 19/149; p<0.05). It is concluded that LV dilatation in MFS patients is more often seen in patients with a non-missense mutation and in those patients without an FBN1 mutation. Therefore physicians should be aware of the possibility of LV dilatation in these patients even in the absence of valvular pathology.
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http://dx.doi.org/10.1016/j.gene.2013.10.033DOI Listing
January 2014

Diagnostic yield in adults screened at the Marfan outpatient clinic using the 1996 and 2010 Ghent nosologies.

Am J Med Genet A 2012 May 27;158A(5):982-8. Epub 2012 Mar 27.

Department of Cardiology, University Medical Centre Groningen, University of Groningen, The Netherlands.

Marfan syndrome (MFS) is diagnosed according to the Ghent nosology, which has recently been revised. In the Netherlands, evaluation for possible MFS is performed in specialized Marfan outpatient clinics. We investigated the diagnostic yield in our clinic and the impact of the 2010 nosology. All adult patients (n = 343) who visited our clinic between 1998 and 2008 were included. We analyzed their reasons for referral, characteristics, and established diagnoses. In addition, we applied the 2010 nosology to all patients and compared the outcomes to those obtained with the 1996 nosology. Diagnoses that were made using the 1996 and the 2010 Ghent nosology included MFS (44/343 vs. 47/343), familial thoracic aortic aneurysm and/or dissection (22/343 vs. 22/343 patients), Loeys-Dietz syndrome (4/343 vs. 4/343 patients), and (familial) mitral valve prolapse (MVPS; 5/343 vs. 28/343 patients). In both nosologies, 77% of MFS patients had an FBN1 mutation. The 2010 nosology led to an increase in the number of diagnoses made: 4 additional cases of MFS were identified (one patient was "lost" who no longer fulfilled the criteria) and 23 additional cases of MVPS were diagnosed. The diagnostic yield of patients with aortic root dilatation was 65% using the 1996 nosology and 70% using the 2010 nosology. The change in diagnoses did not lead to a difference in clinical follow-up. We conclude that the diagnostic yield of our specialized clinic was high, in particular in patients with aortic root dilatation. Further more the 2010 Ghent nosology led to a significant increase in the number of diagnoses made, mainly due to lowering of the diagnostic threshold for MVPS.
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http://dx.doi.org/10.1002/ajmg.a.35343DOI Listing
May 2012

Intrinsic biventricular dysfunction in Marfan syndrome.

Heart 2011 Dec 11;97(24):2063-8. Epub 2011 Oct 11.

Department of Cardiology, Academic Medical Center, Amsterdam, the Netherlands.

Background: Marfan syndrome (MFS) is an autosomal, dominantly inherited, connective tissue disorder usually caused by a mutation in the fibrillin-1 gene (FBN1). As fibrillin-1 is a component of the extracellular matrix of the myocardium, mutations in FBN1 may cause impairment of ventricular function. Furthermore, aortic elasticity is decreased in patients with MFS, which might also impair ventricular function. We assessed biventricular function and the influence of aortic elasticity in patients with MFS by means of cardiac MRI.

Methods And Results: Cardiac magnetic resonance was performed in 144 patients with MFS without significant valvular dysfunction, previous cardiac surgery or previous aortic surgery. Biventricular diastolic and systolic volumes were measured, and ejection fractions were calculated. Flow wave velocity, a measurable derivative of aortic elasticity, was measured between the ascending aorta and the bifurcation. When compared to healthy controls (n = 19), left ventricular ejection fraction (LVEF) was impaired in patients with MFS (53% ± 7% vs 57% ± 4%, p < 0.005), as was right ventricular ejection fraction (RVEF) (51% ± 7% vs 56% ± 4%, p < 0.005). LVEF and RVEF were strongly correlated. (r = 0.7, p < 0.001). No significant differences were found between patients with β-blocker treatment and those without. There was no correlation between aortic elasticity as measured by flow wave velocity and LVEF.

Conclusions: Biventricular ejection fraction was impaired in patients with MFS, and the impairment was independent of aortic elasticity and β-blocker usage. There was also a strong correlation between LVEF and RVEF. Our findings suggest intrinsic myocardial dysfunction in patients with MFS. Clinical trial registration http://www.trialregister.nl/trialreg/admin/rctview.asp?TC = 1423. Unique Identifier: NTR1423.
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http://dx.doi.org/10.1136/heartjnl-2011-300169DOI Listing
December 2011

Prophylactic aortic root surgery in patients with Marfan syndrome: 10 years' experience with a protocol based on body surface area.

Eur J Cardiothorac Surg 2008 Sep 2;34(3):589-94. Epub 2008 Jun 2.

Department of Cardiothoracic Surgery, University Medical Center Groningen, The Netherlands.

Background: Current guidelines recommending prophylactic aortic root replacement in Marfan syndrome are based on absolute diameters of the aortic root. However, aortic root diameter is a function of body surface area (BSA). Here, we report our experience with a protocol for prophylactic aortic root replacement based on BSA.

Methods: Patients with established Marfan syndrome (Ghent criteria) and without prior aortic surgery were eligible for our study. Aortic root ratio was defined as the ratio between the observed aortic root diameter (as measured during annual echocardiography) and the maximum predicted aortic root diameter as calculated according to age and BSA. Replacement surgery was performed if dilatation of the aortic root during follow-up resulted in an aortic root ratio >/=1.3.

Results: Fifty-three patients fulfilled the entry criteria (24 men/29 women, median age at baseline 27 years, range 18-59 years). During follow-up between 1997 and 2007 (mean 4.7+/-3.2 years) four patients underwent uncomplicated aortic root replacement; two had an aortic root ratio >/=1.3 (aortic root diameters were 4.9 and 5.2 cm, respectively), one had aortic root dilatation of 0.4 cm/year and a positive family history for aortic dissection and one had an aneurysm of the ascending aorta as the primary indication. None of the patients in the whole group suffered from type A aortic dissection and there was no mortality.

Conclusions: Although numbers are small, our protocol for prophylactic aortic root replacement in patients with Marfan syndrome based on BSA was effective in terms of preventing aortic dissection and mortality.
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http://dx.doi.org/10.1016/j.ejcts.2008.04.035DOI Listing
September 2008
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