Carnitine deficiency as the possible etiology of idiopathic mitral valve prolapse: case study with speculative annotation.

UNLABELLED: Idiopathic mitral valve prolapse (IMVP) is a very common cardiac abnormality that may be linked to carnitine deficit (inadequate nutritional intake or absorption). One patient with IMVP and related symptoms that were resistant to drug therapy was fully studied. Free plasma carnitine and 24-hour free urine carnitine were measured twice, 10 days apart, after an overnight fast. FINDINGS: Free plasma carnitine 23 and 28 microM/L (our laboratory N=38+/-2 microM/L); free urine C 25 and 44 microM/24 hr (N=255+/-66 microM/24 hr); FFA 0.88 mEq/L, Duncombe method (N=0.09-0.60); LDL 42% (N = 44-65); cholesterol 161 mg/dl (N = 180-280); triglycerides 84 mg/dl (N = 50-172); SGOT 79 MU/ml (N = up to 40); SGPT 147 MU/ml (N = up to 40); OCT 11.2 MU/ml (N = up to 10.0); aldolase 11.5 MU/ml (N = up to 3.1, Bruns method). Deltoid biopsy: light microscopy showed the presence of optically empty vacuoles; electron microscopy showed lipid droplets near the subsarcolemma area and intermyofibrillar spaces. The mitochondria contained electron dense granules. The electromyogram was also abnormal. In a random sample of four patients with IMVP and related classic symptoms, we have found low levels of plasma and/or urinary carnitine in each case. This study may be the first step towards L-carnitine therapy for what has previously appeared to be idiopathic cardiomyopathy.

Variations in coronary artery anatomy: Normal versus abnormal.

We offer a comprehensive classification of coronary artery anomalies, together with angiographic examples of each entity. Minimal requirements for normality include the following criteria: (1) the dual aortic origin is from right and left coronary ostia; (2) the course of the right coronary artery follows the right atrioventricular groove; (3) the course of the left coronary artery follows the left atrioventricular groove and anterior interventricular groove; (4) the posterior descending branch originates from either the right or left coronary artery; (5) the major coronary branches flow epicardially; and (6) the coronary arteries terminate at the myocardial capillary level. This conception of "normal" coronary arteries has determined the classification of abnormalities presented here. Early and correct diagnosis of anomalies that may compromise the myocardial blood supply is stressed, and possible surgical solutions are offered. Selective coronary angiography is the technique of choice for precise visualization of the coronary artery system.

[Anomalous origin of the left coronary artery from the pulmonary artery (author's transl)]. / Origine anomala dell'arteria coronaria sinistra dall'arteria polmonare

The case of a three year-old child with anomalous origin of the left coronary artery from the pulmonary artery is presented. He had a clinical picture and an electrocardiographic pattern of antero-lateral myocardial infarction that suggested a cardiac malformation. Once the diagnosis was established by cardiac catheterization and coronary arteriography, the defect was successfully correted by transplanting the anomalous coronary vessel to the aorta. The clinical, electrocardiographic and angiographic features of the anomaly are given.

[Completely interrupted aortic arch, ventricular septal defect and patent ductus arteriosus. A complete surgical correction in one procedure (author's transl)]. / Interruzione completa dell'arco aortico, difetto del setto interventricolare e persistenza del dotto di Botallo. Correzione chirurgica totale in un tempo

The authors present a case of completely interrupted aortic arch (Type B) associated with ventricular septal defect and patent ductus arteriosus in a child 3 years and 10 months old, who was successfully subjected to complete surgical correction in one procedure. The pre- and post-operative electrocardiographic and hemodynamic data are evaluated. The authors draw attention to the extreme rarity of surgical resolution, in one procedure, of this type of congenital heart disease.