ABSTRACT
Amyloidosis is characterised by extracellular deposits of a heterogenous protein. Compared with secondary forms, hereditary amyloidosis due to genetic mutations is rare. The authors report the cardiac manifestations in a French family of 5 sisters and 1 brother, three of whom presented with amyloidosis with deposits of transthyretin and apolipoprotein A1 due to a new genetic mutation.
Subject(s)
Amyloidosis/genetics , Apolipoprotein A-I/genetics , Heart Diseases/etiology , Mutation , Prealbumin/genetics , Adult , Amyloidosis/diagnosis , Amyloidosis/physiopathology , Echocardiography , Electrocardiography , Female , France , Heart Diseases/diagnostic imaging , Heart Diseases/physiopathology , Humans , MaleABSTRACT
Doppler echocardiographic evaluation of mitral stenosis is often difficult in patients with atrial fibrillation. Sixteen patients were examined by transthoracic Doppler echocardiography and the relation between the variations in transmitral end diastolic pressure gradient and the length of the corresponding cardiac cycles was analysed. Mitral valve surface area (1.65 +/- 0.73 cm2) was determined by the pressure half-time method. The end diastolic transmitral pressure gradient was calculated from the simplified Bernouilli formula applied to end diastolic mitral flow velocity. In each patient, a linear relationship was observed between the end diastolic mitral gradient and the corresponding RR interval. The slope and intercept of the graph correlated significantly to mitral valve surface area (r = 0.72, p < 0.002 and r = 0.93, p < 0.00001, respectively). Using regression equations describing these correlations, it has been possible to construct a nomogramme indicating mitral valve surface area as a function of mitral end diastolic pressure gradient and the duration of the corresponding RR cycle. This nomogramme facilitates Doppler evaluation of mitral stenosis in atrial fibrillation.
