[A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)]. / Une nouvelle affection musculaire familiale, définie par l'accumulation intra-sarco-plasmique d'un matériel granulo-filamentaire dense en microscopie électronique.

This report concerns a family in which several members presented an involvement of skeletal and velo-pharyngeal muscles, associated with hypertrophic cardiomyopathy, respiratory disturbances and lens opacities. The mode of transmission is autosomal dominant. The E.M.G. showed neither spontaneous activity nor myotonic discharges. In two patients, the muscle biopsies showed identical changes. By light microscopy it was seen that in numerous type I fibres, the intermyofibrillar network was "rubbed out" and this occurred along with splitting of such fibres. Electron microscopy revealed an intrasarcoplasmic accumulation of an electron-dense granulo-filamentous material: in some areas it formed a mesh of threads around the myofibrils and in others it was disposed regularly in small stacks facing the Z lines. Continuity or structural similarity of this material and the Z lines was not observed; its relationship with the dense strips of leptofibrils is suggested.

Hemodynamic and cineangiographic study before and after mitral valvuloplasty (Carpentier's technique).

Hemodynamic studies were performed in 26 patients 2-60 months after mitral valvuloplasty (average 14 months). All patients but one had an annular deformity requiring prosthetic ring annuloplasty. In addition, 25 patients had prolapsed leaflet or restricted leaflet motion requiring specific techniques of repair. All patients were asymptomatic after operation. Significant residual mitral insufficiency was present in only five patients. Roentgenograms showed a reduction in cardiothoracic ratio, from 0.62 +/- 0.07 preoperatively to 0.53 +/- 0.06 postoperatively (p less than 0.001). Mean pulmonary artery pressure decreased from 30 +/- 12 mm Hg to 18 +/- 6 mm Hg (p less than 0.001) and cardiac index returned to normal (2.7 +/- 0.7 1/min/m2 vs 3.1 +/- 0.7 1/min/m2, p less than 0.02). Angiocardiographic studies showed that end-diastolic volume index returned to normal (148 +/- 41 cm3/m2 vs 89 +/- 23 cm3/m2, p less than 0.001), with significant decreases in end-systolic volume index ( 63 +/- 27 cm3/m2 vs 43 +/- 16 cm3/m2, p less than 0.001), left ventricular mass (114 +/- 28 g/m2 vs 88 +/- 20 g/m2, p less than 0.001), ejection fraction (58 +/- 11% vs 52 +/- 11%, p less than 0.02) and mean velocity of fiber shortening (1.19 +/- 0.36 circ/sec vs 1.01 +/- 0.24 circ/sec, p less than 0.05). We conclude that mitral valvuloplasty provides good and stable midterm results and that the operation should be performed before irreversible myocardial lesions occur.

[Conservative surgery of the mitral valve. Pre- and post-operative hemodynamic and angiographic study of 20 cases]. / Chirurgie conservatrice de la valve mitrale. Etude hemodynamique et angiographique pre et post-operatoire de 20 cas.

Twenty patients with pure or prevalent mitral regurgitation, undergone mitral valve conservative surgery according to the Carpenter-technique from 1975 to 1979, have been studied. There are 19 women and 1 man, mean age of 25 years (range 11 to 65); 18 had a rheumatic fever; 2 had a mitral valve prolapse due to a degeneration of collagen within the central core of the cordae tendineae, which was the primarily responsible for cordae rupture in 1 case. The clinical and hemodynamic features were severe in a 50 per cent of cases (8 patients in N.Y.H.A. functional class III; 3 in class IV); there was pure mitral regurgitation in 12, combined mitral stenosis and regurgitation in 8; tricuspidalic regurgitation which needed annuloplasty in 5 patients. All the patients have been studied by hemodynamic and angiocardiographic study before and an average of 14 months after surgical treatment. Surgical conservative technique of mitral valve is described; the results are analyzed. All the patients are in N.Y.H.A. functional class I, 14 months after surgical valve therapy. In three cases, a systolic 3/6 murmur which was present immediately after surgical treatment and that not increased in time, remains. EKG left overload is still present in 2 cases; Heart-Chest ratio decreases in all the patients (range 0,61 to 0,51). Atrial fibrillation is present in 6 patients. Hemodynamic findings show: Pulmonary Systolic Pressure (PSP) decreases (45 +/- 4 to 27 +/- 1); Mean Pulmonary Capillary Wedge (PCW) pressure decreases (19 +/- 1 to 11 +/- 1); Total Peripheral Resistance (TRP) (2023 +/- 112 to 1595 +/- 70 dynes sec cm--5), Total Pulmonary Resistances (TPR) (742 +/- 89 to 351 +/- 36), Pulmonary Arterial Resistances (PArtR) (344 +/- 51 to 133 +/- 18 dynes sec cm--5), and Left Ventricle Diastolic Pressure (LVEDP) (12 +/- 1 to 8 +/- 1 mmHg) normalize. The Ejection Fraction (EF) decreases at the most operative control after surgery in 11 patients (56 +/- 3 to 50 +/- 1). Angiographic study shows no regurgitation in 4 patients, a least regurgitation in 13 cases and there is a 2/4 regurgitation in 3 cases only. The AA. have got to an excellent result in 17 patients; a 2/4 degree angiographic regurgitation persist in 3 cases, although a clear clinical improvement. The AA. consider of great utility this surgical valvular management according to a critical review of the efficacy and stability of the results.