[Refsum's disease. Apropos of 2 cases disclosed by myocardiopathy]. / La maladie de Refsum. A propos de deux cas révélés par une myocardiopathie.

Refsum's disease is a polyneuropathy due to a hereditary error in the metabolism of a fatty acid, phytanic acid, usually leading to cardiac failure only at an advanced stage of the disease. The authors report the case of two brothers with Refsum's disease revealed by a heart failure before the clinical stage of the peripheral neuropathy. In the younger brother, the affection started at the age of 22 years by an acute pulmonary oedema which revealed a dilated, hypokinetic myocardiopathy, associated with retinitis pigmentosa, ptosis, anosmia and biological myolysis. The normal plasma concentration of phytanic acid measured several times led to the conclusion of Kearns-Sayre syndrome even if certain aspects were atypical (moderate conduction disorders, no characteristic aspect in the muscle biopsy). Five years later, the older brother, aged 28, presents a dyspnea on effort which leads to the discovery of a hypokinetic, hypertrophic myocardiopathy, slightly dilated, associated with cardiac conduction disorders, retinitis pigmentosa, anosmia and biological myolysis. The plasma concentration of phytanic acid being very high. Refsum's disease was diagnosed and the diagnosis of younger brother was corrected. From the study of these two cases, the characteristics of the cardiac disorders can be specified: the cardiopathy can reveal the disease and correspond to a dilated or hypertrophic myocardiopathy. The diagnosis of the disease can be difficult because the plasma phytanic acid may remain at normal level, thus requiring the assay of the activity of phytanate oxydase. The existence of ophthalmologic signs (retinitis pigmentosa or progressive ophthalmoplegia externa) associated with a myocardiopathy must systematically lead to a search for Refsum's disease, this diagnosis having fundamental therapeutic implications (died, even plasmapheresis).(ABSTRACT TRUNCATED AT 250 WORDS)

[Aneurysms of the membranous septum. Apropos of 4 cases]. / Les anévrysmes du septum membraneux. A propos de quatre observations

Three cases of aneurysm of the membranous septum were diagnosed in vivo. The fourth case was discovered at post-mortem examination in a patient who had a conductive disorder. These four cases give us reason to review the anatomical, clinical, radiological and haemodynamic features of this condition.

[Atrio-ventricular block in Steinert's disease. Electrophysioligic and histologic study of the conduction system]. / Le bloc auriculo-ventriculaire de la maladie de Steinert. Etude électrophysiologique et histologique des voies de conduction

An anatomical study of the conducting pathways was carried out in a case of Steinert's disease complicated by a complete atrio-ventricular block with syncope. Electrical study of the potentials in the bundle of His located the block within and below the bundle. When the patient died, an anatomical study of the conducting pathways was carried out. There were foci of fibrosis mainly within the conducting system, but these changes were moderately marked only, and seemed to be the final stage of a disorder which was not itself visible optically. The basic underlying pathological process is probably biochemical, and the lesions seen microscopically are simply a late sign of the disorder.