Electrocardiographic and vectorcardiographic observations in Fabry's disease.
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Biomedical subjects
Publications and source records attributed to J H Moller.
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In a review of the electrocardiograms of 27 patients with aortic valvular atresia, several showed an unusual pattern. In two, the Wolff-Parkinson-White syndrome was present, and in the third, complete right bundle-branch block was seen. The study also confirms that left axis deviation and left ventricular hypertrophy can occur rarely. No patient showed a Q wave in lead V6.
Long-term follow-up (10 to 13 years) of four patients with anomalous left coronary artery who underwent ligation of the anomalous left coronary artery is presented. Two were operated upon in infancy and the other two at 6 and 7 years of age, respectively. Postoperatively, each is asymptomatic and doing well clinically. The cardiac size on roentgenogram of the chest returned toward normal in each. Abnormalities persist on the electrocardiogram. On treadmill exercise, the electrocardiogram of the two operated upon in infancy showed an abnormal result, whereas the two patients operated upon later in childhood had no electrocardiographic abnormalities.
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Ascending aorta-pulmonary artery (Waterston) anastomosis was performed in 75 children, 51 of whom were younger than 1 month of age and 36 younger than 1 week of age at the time of operation. There were 21 operative and eight late deaths. Operative deaths occurred more frequently in infants with complex cardiac conditions and severe hypoxemia and acidosis preoperatively. The postoperative status of the pulmonary arteries or arterioles could not be correlate with the degree of cardiomegaly, the pulmonary vascular markings, or characteristics of the shunt murmur. Sixty-four percent of the patients catheterized had one or more postoperative structural abnormalities of the pulmonary arteries following the operation, most frequently kinking or narrowing of a pulmonary artery. Occlusion of a pulmonary artery occurred in five of 33 patients studied by angiography. Pulmonary vascular disease may also develop. Therefore, patients should be catheterized 1 year postoperatively to evaluate the level of pulmonary vascular resistance and the pulmonary arteries.
Absence of the right superior vena cava with persistence of the left superior vena cava is an uncommon cardiac malformation. 2 patients with this anomaly are presented, and the importance of recognizing this condition is emphasized. Although associated with other cardiac malformations, there is no characteristic type.
Fabry's disease has been reported to be associated with ECG abnormalities. Thirty-two patients with this disease followed in the University of Minnesota had ECG's and 15 had VCG's. An abonrmal rhythm was observed in two patients on initial examination and four more developed abnormal rhythm on follow-up examinations. A short PR interval (120 msec. or less) was seen in five patients. Thirteen others had a PR interval that was less than 140 msec. Conduction abnormalities involving the A-V node or His bundle or its branches were present in 22 per cent of the patients, most frequently the intraventricular conduction defects progressing to the right bundle branch block. Atrial or ventricular enlargement was seen in 60 per cent of the patients, left ventricular hypertrophy being the most common. ST-T changes with or without chamber enlargement were seen in 10 patients. One patient had an anterior myocardial infarction pattern on his ECG. Hemizygosity was found to be associated with significantly more abnormalities than heterozygosity. The severity of conduction defects also increased with the duration of the disease process. Vectorcardiography in this study did not provide significant additional information other than that observed on the ECG alone. Since the pathology usually reveals myocardial fibers, conduction system, and blood vessels infiltrated with glycosphingolipid, it is believed that lipid infiltration is responsible for conduction defects, chanber enlargement, and other abnormalities. Although Fabry's disease is rate, it may be amenable to therapy; therefore, recognition of cardiac involvement is important.
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Between 1957 and 1973, a total of 64 children had complete heart block during intracardiac surgery were treated by one of three methods: (1) No pacemaker: Six of the 13 patients in this group had reversion to sinus rhythm. Seven patients continued to have complete heart block, and five of these died of Stokes-Adams episodes. Two patients continue to have complete heart block without pacemaker insertion. (2) Temporary pacemaker: Seventeen of 25 patients had reversion to sinus rhythm and the temporary pacemaker was removed; the other 8 continued to have complete heart block. Five of the eight died--three of Stokes-Adams episodes and two at the time of cardiac reoperation. Three remain asymptomatic without placement of a permanent pacemaker. Six died of postoperative complications unrelated to heart block or pacemaker implantation. None of the other 20 experienced Stokes-Adams attacks. There was one late death in this group. Although there are problems in using permanent pacemakers and electrode systems, in these patients with operatively induced complete heart block their use was associated with a low mortality rate.
The clinical and necropsy findings in 3 patients with tetralogy of Fallot who died suddenly after corrective operation are presented. Early postoperative electrocardiograms of 2 patients showed coexistent right bundle-branch block and left anterior hemiblock; one of these developed complete atrioventricular block and required a pacemaker. In the third a pacemaker. In the third patient, postoperative electrocardiograms showed anterior myocardial infarction. At necropsy, there was gross and histological evidence of myocardial infarction in each patient. After operation, extensive myocardial fibrosis and the development of right bundle-branch block and left anterior hemiblock are possible factors causing cardiac arrhythmias and sudden death.
The pulmonary vascular bed was evaluated following a Blalock-Taussig shunt performed in 36 patients for decreased pulmonary blood flow. The time of follow-up ranged from one to 21 years after operation. No patients developed severe pulmonary changes in less than eight years after institution of the shunt. Ten of 20 patients having a shunt eight years or longer developed some degree of pulmonary vascular disease, mainly in the form of intimal fibrosis. This was severe in six of the 20 patients. As the duration of the shunt increased, so did the incidence of pulmonary vascular disease.
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Information about 5 patients with residual right-to-left shunts following repair of an atrial septal defect is presented. In each patient the defect was located low in the atrial septum adjacent to the inferior vena cava. During operation, either the eustachian valve of the inferior vena cava had been mistaken for the lower margin of the defect or the lower portion of the defect was not closed; blood flow was then diverted from the inferior vena cava into the left atrium. To prevent this occurrence, the inferior margin of the atrial septal defect should be closed first.
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The cardiovascular abnormalities were investigated in two unrelated hemizygous males with Fabry disease who had clinical mitral insufficiency. Postmortem examination of their hearts revelaed anatomic, ultrastructural and biochemical abnormalities resulting from defective activity of the lysosomal enzyme, alpha-galactosidase A. The ultrastructural and biochemical studies demonstrated the marked accumulation of the major glycosphingolipd substrate, trihexosyl ceramide, in the lyosomes of all the cardiac tissues examined; the greatest concentrations were found in the mitral valve and elft ventricular myocardium. Intriguingly, digalactosyl ceramide, a glycosphingolipid substrate not detectable in normal lung, vessel or cardiac tissues, was found increased only in the lung and right heart tissues. Morphologic and chemical examination of cardiac and systemic vessels demonstrated accumulation of trihexosyl ceramide in lysosomes of the vascular endothelium. These studies demonstrate that the progressive accumulation of trihexosyl ceramide in the lysosomes of the cardiac structures and vascular system leads to the multiple cardiovascular manfiestation of Fabry disease.
Thirty-three children with secundum or sinus venosus atrial septal defects underwent operative correction at the University of Minnesota Hospitals between January, 1972, and December, 1973. Nineteen of these patients (58%) did not have cardiac catheterization as part of their preoperative evaluation, since clinical assessment of the child, with or without corroborative evidence obtained by echocardiography and radionuclide angiocardiography, provided sufficient information to permit recommendation of operation. In the majority of patients with uncomplicated atrial septal defect, cardiac catheterization is not a necessary part of the preoperative evaluation and may be reserved for those patients with unusual clinical or laboratory features.