Propionyl-CoA carboxylase deficiency
Dec. 09, 2022
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LF, 35-year-old white man. Philadelphia Hospital Autopsy. Volume 23, page 1. Physician: Dr. FP Henry. Pathologist: Dr. Karsner. Clinical note: At one time chorea. ... Cyanosis, dyspnea, edema, arrhythmia (extrasystolic), tachycardia, pulsating liver, jugular veins, etc. Signs of double mitral and tricuspid lesion. Died gradually with symptoms of pneumonia. Pathologic diagnosis: Cloudy swelling of heart, with double-sized dilatation. Mitral stenosis; tricuspid insufficiency. Chronic congestion of lungs; hypostatic pneumonia of right; beginning gangrene of left. Cyanotic induration of kidneys; arteriosclerosis; chronic congestion with fatty degeneration of liver, also slight perilobular fibrosis, etc. ... Heart: ... Mitral orifice was not incised; its leaflets are enormously thickened and contracted, showing at the right junction slight calcification; the whole presenting the appearance of the funnel-shaped buttonhole mitral. The chordae tendineae are enormously thickened, retracted and adherent, and are attached to papillary muscles which are much elongated and have sclerotic tips. The fibrosis of the anterior mitral leaflet extends forward along the septum, below the bases of the aortic valves, producing a thickening which extends transversely through the bundle of His. The ventricular cavity is enlarged, contains chicken-fat clot. ... For several years previous to this patient's death the author had from time-to-time opportunities of studying the heart by means of the cardiosphygmograph. Very marked arrhythmia was always present and consisted of the type that Mackenzie describes as "nodal rhythm," the "pulsus irregularis perpetuus" of Hering, but which, according to more recent investigations, is probably due to auricular fibrillation. (Source: Norris GW. Studies in cardiac pathology. Philadelphia and London: W.B. Saunders Company, 1911. Photograph restored and edited by Dr. Douglas J Lanska.)