ABSTRACT
Resumen Se presenta el caso de una gestante con cardiopatía congénita no estudiada que acudió al servicio de urgencias en la semana 25 + 4 por palpitaciones, con evidencia de hipertensión arterial desde el ingreso. Los estudios diagnósticos revelaron anomalía de Ebstein, con gran compromiso de cavidades derechas y asociado a comunicación interauricular. También se documentó preeclampsia lejos del término, con restricción grave del crecimiento intrauterino. Durante la estancia hospitalaria, y ante negativa de la paciente a finalizar la gestación, desarrolló síntomas de congestión pulmonar por sobrecarga. Una vez falleció el feto in utero y después de inducir el parto, remitieron los síntomas cardiovasculares y se controló la hipertensión.
Abstract We present the case of a pregnant woman with previously undiagnosed congenital heart disease, who presented to the emergency department at week 25 + 4 due to palpitations, with evidence of arterial hypertension from admission. Diagnostic studies revealed Ebsteins anomaly, with great involvement of the right cavities and associated with atrial septal defect. Preeclampsia was also documented far from term, associated with severe intrauterine growth restriction. During the hospital stay and due to the refusal of the patient to end the pregnancy, she developed symptoms of pulmonary congestion due to overload, once the fetus died in utero and after inducing labor, the cardiovascular symptoms remitted and hypertension was controlled.
Subject(s)
Humans , Female , Pregnancy , Pre-Eclampsia/diagnosis , Ebstein Anomaly/complications , Ebstein Anomaly/diagnosis , Fetal Death , Fetal Growth RetardationABSTRACT
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Subject(s)
Humans , Male , Aged , Aortitis/complications , Aortitis/diagnosis , Aortitis/drug therapy , Adrenal Cortex Hormones/therapeutic use , Vasculitis/complications , Vasculitis/drug therapy , Aortitis/physiopathology , Aortitis , Magnetic Resonance Imaging/instrumentation , Magnetic Resonance Imaging/methods , Methotrexate/therapeutic useABSTRACT
PURPOSE: Bicuspid aortic valve (BAV) is the most common congenital cardiac anomaly which affects 0.5-2% of the population. It can be associated with other cardiac congenital lesions such as aortic aneurysms or aortic coarctation. Some genetic abnormalities have been suggested as the underlying cause of BAV and aortic root dilatation, but no clear genetic substrate and no specific pathogenic gene variant have already been identified. Increased matrix metalloproteinase activity has been described in the aortic wall of thoracic aortic aneurysms (TAA). METHODS: 87 patients with BAV and 77 controls with normal tricuspid aortic valve were prospectively assessed. We analysed three functional polymorphisms (-1607 1G/2G, -519 A/G, and -340 T/C) in the matrix metalloproteinase (MMP)-1 gene using polymerase chain reaction and restriction fragment length analysis. RESULTS: We found a haplotype composed of the lower activity allele from each polymorphism (-1607 1G/-519 A/-340 C) significantly less frequent in BAV group (p=0.016; OR [95% CI]=0.37 [0.16-0.85]), association even more clear when we consider only men (p=0.0005, OR [95% CI]=0.24 [0.10-0.56]). We also found a borderline statistical significance in the distribution of the -1607 alleles, being 2G allele more frequent in patients with TAA (p=0.053). This association was stronger and statistically significant when we consider only men (p=0.013; OR [95% CI]=2.0 [1.16-3.50]). In addition, genotype -1607 2G2G, theoretically the more active transcriptionally, was also significantly more frequent in TAA group, independently of aortic valve morphology. CONCLUSIONS: Our study suggests that specific genotypes of MMP1 gene could be in part responsible of the complications of BAV pathology, like TAA.
