Structural and functional changes in the heart of adult patients with osteogenesis imperfecta: Case-control study. / Cambios estructurales y funcionales en el corazón de pacientes adultos con osteogénesis imperfecta: estudio de casos y controles.

INTRODUCTION AND OBJECTIVES: Osteogenesis imperfecta (OI) is a connective tissue disease characterised by an anomalous synthesis of type i collagen. Little is known about the cardiovascular affectation suffered by these patients. The most frequently described are valvular dysfunction and dilatation of the aorta. We wanted to analyse the structural and functional changes of the heart in adult patients with OI. METHODS: We prospectively studied 82 patients with OI and compared them with 60 healthy subjects matched for age and sex. All of them underwent an echocardiographic study. RESULTS: We found no differences in the incidence of valvulopathies compared to the control group. Our patients had a larger left atrium and larger left ventricle (LV) diameters adjusted for body surface area. Aortic root was significantly higher. LV ejection fraction in patients with OI was lower and they had higher pulmonary artery systolic pressure. CONCLUSIONS: Patients with OI suffer structural and functional changes in the heart. A follow-up is recommended to observe the evolution of these changes.

Infarto agudo miocárdico-embólico asociado a embolia Pulmonar / Embolic acute myocardial infarction associated with pulmonary embolism

Resumen El infarto agudo de miocardio de origen embólico es poco frecuente y suele ocurrir en pacientes con la fibrilación auricular o las valvulopatías. Suele afectar a la arteria descendente anterior. La presentación simultánea de un embolismo pulmonar y un infarto agudo de miocardio también es rara y difícil de diagnosticar porque ambas entidades producen síntomas parecidos y alteraciones electrocardiográficas a veces superponibles. Se presenta el caso de un paciente con embolia pulmonar y un infarto agudo de miocardio simultáneos, en probable relación con una embolia paradójica.

Abstract Acute myocardial infarction of embolic origin is rare and usually develops in patients with atrial fibrillation or valvular heart diseases. It affects the anterior descending artery. Simultaneous presentation of a pulmonary embolism and acute myocardial infarction is also rare and difficult to diagnose because both entities produce similar symptoms and sometimes overlapping electrocardiographic alterations. The case of a patient with simultaneous pulmonary embolism and acute myocardial infarction is presented, probably related to a paradoxical embolism.

[Cardiac abnormalities in osteogenesis imperfecta. Case-control echocardiographic study]. / Alteraciones cardiacas en la osteogénesis imperfecta. Estudio ecocardiográfico de casos y controles.

BACKGROUND AND OBJECTIVES: Osteogenesis imperfecta is a rare disease with abnormal synthesis of type 1 collagen that affects diverse extra-skeletal tissues. Aortic root dilatation and valvular dysfunction have been described. Our purpose was to evaluate the prevalence of cardiac abnormalities in patients with osteogenesis imperfecta in comparison with an age and sex-matched control group of healthy people. PATIENTS AND METHODS: We prospectively studied 26 patients with osteogenesis imperfecta and compared them with 25 healthy people. All patients underwent a transthoracic standard M-mode, 2D and colour Doppler study. RESULTS: We did not find significant differences between both groups in the left ventricular diastolic and systolic function and the incidence of valvulopathies. The dimensions of the aortic root, left atrium and left ventricle when indexed by body surface area were significantly larger in patients with osteogenesis imperfecta compared with the control group, which was probably due to the reduced body surface of these patients. However there was a significant difference in the aortic root/telediastolic diameter of left ventricle ratio independent of the body surface, which was higher in patients with osteogenesis imperfecta. CONCLUSIONS: The incidence of valvular disease in osteogenesis imperfecta is similar to that of the normal population. However aortic root is larger in the former patients and is related to the left ventricular diastolic diameter.