Maria Wimmer

Long-term outcome of patients with ventricular septal defect considered not to require surgical closure during childhood ☆

OBJECTIVES The purpose of the study was to assess the long-term outcome of patients with small ventricular septal defects (VSDs) considered not to require surgical closure during childhood. BACKGROUND Although patients with small VSDs have generally been considered not to require surgery, more recent data suggest that a significant percentage of these patients develop serious problems during adult life. METHODS A total of 229 consecutive patients (115 females) with a VSD considered too small to require surgery during childhood as defined by normal pulmonary artery pressure, less than 50% shunt, pulmonary vascular resistance < or =200 dynes x s cm(-5), no VSD-related aortic regurgitation (AR), and no symptoms and who had no additional hemodynamically relevant heart defect were followed in an adult congenital heart disease program. Physical examination, electrocardiography, and echocardiography were performed in all patients in one- to three-year intervals; exercise tests and Holter monitoring were performed in 140 and 127 patients, respectively. RESULTS Follow-up was completed in 222 patients (97%). Mean age at last visit was 30 +/- 10 years. Spontaneous VSD closure was observed in 14 patients (6%). No patients died, four patients (1.8%) had an episode of endocarditis, of whom two required aortic valve replacement, and one additional patient (0.4%) had surgical closure for hemodynamic reasons. For 118 patients who entered the study between 1993 and 1996 and were prospectively followed for 7.4 +/- 1.2 years, event-free survival with end points defined as death, endocarditis or heart surgery was 99.1 +/- 0.8% at three years, 96.5 +/- 1.7% at six years and 95.5 +/- 1.9% at eight years. At last visit, 94.6% of all patients studied were symptom free. Left ventricular (LV) size by echocardiography was normal in 198 (89%) patients, borderline in 23 patients and definitely enlarged in only one patient. None had systolic LV dysfunction, and pulmonary artery pressure (PAP) was normal in all patients. Mean exercise capacity was 92 +/- 21% of expected, and 87% of patients had no arrhythmias on Holter monitoring, with the remainder showing benign rhythm disorders. CONCLUSIONS Outcome in well-selected patients with a small VSD is good. Surgical closure does not appear to be required during childhood as long as left-to-right shunt is <50% and signs of LV volume overload are absent, when PAP is not elevated, and no VSD-related AR or symptoms are present.

Growth and nutritional intake of infants with congenital heart disease

SummaryPoor weight and length gain of infants with congenital heart disease is generally considered to be related to inadequate nutritional intake, but no longitudinal data on growth and nutritional intake of such infants are available. We compared weight, length, subscapular and triceps skinfold thickness, energy and protein intake (24-h dietary intake records) as well as serum prealbumin and albumin of infants with cyanotic heart disease (n=8) or isolated left-to-right shunt (n=8) with those of healthy infants aged (n=8) 45–365 days.Weight, length, and combined (subscapular and triceps) skinfold thickness of the two groups with congenital heart disease (CHD) were significantly less from 183 through 365 days of age. However, energy and protein intake was similar to that of the control group from 45 through 365 days of age. Normal serum prealbumin and albumin in the infants with CHD ruled out protein-calorie malnutrition. It is concluded that a low level of food intake was not the main cause of inadequate growth and of small subcutaneous fat stores in these two small, but homogeneous, groups of infants with CHD.

Nemaline myopathy and cardiomyopathy.

A case report is presented in which a 4-year-old male is diagnosed with hypertrophic cardiomyopathy, respiratory distress, muscle hypotonia, and psychomotor retardation. Electron microscopic study of skeletal muscle biopsy revealed pathologic changes typical of congenital nemaline myopathy, and biochemical analysis revealed a disorder of mitochondrial fatty acid oxidation. Therefore a previously undescribed combination of a structural and metabolic myopathy is reported.

Long-term hemodynamic effects of nifedipine on congenital heart disease with Eisenmenger's mechanism in children.

SummaryThe hemodynamic effect of long-term nifedipine medication was studied in 10 children, 3–12 years of age, five with ventricular septal defect and five with complete atrioventricular septal defect; all had Eisenmengers reaction, seven also had Downs syndrome. They underwent heart catheterization prior to and during 1–4 years of nifedipine therapy. Ficks principle was used to calculate the ratio of pulmonary arterial pressure to aortic pressure (PAP/PAO), the ratio of pulmonary flow to aortic flow (QP/QS), as well as the ratio of pulmonary vascular resistance to aortic vascular resistance (RP/RS). In the seven children under 8.8 years, nifedipine caused a significant drop in PAP/PAO (p<0.004), a slight increase in arterial O2 saturation, a significant increase in QP/QS (p<0.02), and a decrease in RP/RS (p<0.02). The nifedipine effect was age related. On nifedipine, breathing oxygen resulted in, independent of age, a significant increase in QP/QS (p<0.003) and a significant decrease in PAP/PAO (p<0.04) and in RP/RS (p<0.003). Direct O2 consumption measurements before and during oxygen breathing in six patients demonstrated no significant change in RP, RS, QP, or QS indices. Nifedipine had a relaxing effect on the pulmonary vascular bed, especially in the younger child with Eisenmengers mechanism. On nifedipine therapy, O2 produced a more complex hemodynamic reaction that was not restricted to the pulmonary circulation alone.

Doppler flow profiles in the right and left pulmonary artery in children with congenital heart disease and a bidirectional cavopulmonary shunt

SummaryThe systolic and diastolic Doppler tracings in the right and left pulmonary artery were analyzed in 10 patients with complex cyanotic congenital heart disease, aged 6 months to 12 years (median 3 years), after employment of a bidirectional cavopulmonary shunt. The postoperative interval ranged from 2 weeks to 1.7 years (median 1.3 years). In children with pulmonary atresia or severe pulmonary stenosis with minimal antegrade pulsatile pulmonary blood flow Doppler echocardiography confirmed a systolic and diastolic bidirectional shunt from the vena cava superior to both pulmonary arteries. In children with pulmonary stenosis, Doppler echocardiography confirmed a systolic shunt only to the right pulmonary artery and a diastolic bidirectional shunt into both pulmonary arteries. As the left pulmonary artery was perfused by the pulsatile transvalvular flow it was difficult to detect a concomitant systolic Glenn-related flow in those patients. Quantitative analysis of the diastolic Doppler tracings revealed a significant difference in the velocity time integral in the right and left pulmonary artery indicating a dominant right lung perfusion in diastole.

Exercise testing after surgical repair of coarctation of the aorta

SummaryAfter repair of coarctation, exercise testing was performed in 20 patients with an isolated coarctation (group I) and in 26 with additional congenital cardiac malformations (group II). Ages at time of operation were significantly different in both groups (7.9±6.0 years in group I; 4.6±3.8 years in group II;p≤0.01). Simultaneous blood pressures were obtained from upper and lower limbs at rest and after exercise. There was no significant difference regarding the systolic blood pressures at rest (122.5±15.6 mmHg in group I versus 119±15.8 mmHg in group II). Seven (14%) of the patients were hypertensive; five of them had blood pressure gradients between arms and legs of 15–45 mmHg. But the gradients at rest were found to be significantly different in both groups (9.0±10.5 mmHg in group I; 18.5±16.1 mmHg in group II;p≤0.05). Six patients, all in group II, had gradients ≥30 mmHg at rest. After exercise there were no significant differences in systolic blood pressure and gradients in both groups. Values for blood pressures and gradients at rest and after exercise showed a positive correlation (blood pressurer=0.76,p≤0.001; gradientr=0.44,p≤0.01). Thus exercise testing can provide valuable information about blood pressure and gradient changes during physical activity, but angiography is required to reveal restenosis or residual stenosis.

Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome

We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood. Histochemical and biochemical analysis of skeletal muscle biopsy revealed myoadenylate deaminase deficiency; molecular genetic analysis confirmed the diagnosis of primary (inherited) myoadenylate deaminase deficiency. Plasma, urine, and muscle carnitine concentrations were reduced. L-Carnitine treatment led to gradual improvement in exercise tolerance and cognitive performance; plasma and tissue carnitine levels returned to normal, and echocardiographic evidence of left ventricular hypertrophy disappeared. The combination of inherited myoadenylate deaminase deficiency, gigantism syndrome and carnitine deficiency has not previously been described.

Erythropoietin, erythropoesis and iron status in children after major surgical stress

The aim of our study was to evaluate bone marrow stimulation and bone marrow response to post-operative anaemia in children after open heart surgery. In 16 children (age 5.7±0.9 years, weight 20.1±3.2 kg) serum erythropoietin, haematocrit, reticulocyte count, ferritin, transferrin saturation and C-reactive protein were assessed perioperatively after cardiopumonary bypass for surgical repair of atrial septal defect. Erythropoietin increased seven fold from 14±6.2 (7–30) to 80±49 (20–171) mU/ml (P<0.05) and the reticulocyte count a 1.7-fold from 11.1±3.1 (6–19) to 18.4±5.9 (10–31) ‰ (P<0.05). Transferrin saturation was inversely correlated to C-reactive protein.ConclusionThese findings suggest adequate bone marrow stimulation but an inadequate bone marrow response during the immediate perioperative period, caused by inhibition of erythropoesis by acute postoperative inflammation in children after open heart surgery.

Hemodynamic effects of nifedipine and oxygen in children with pulmonary hypertension

SummaryFourteen patients, 2 to 20 years old were investigated. Two had primary pulmonary hypertension, 11 had congenital heart disease and post-tricuspid shunts, and 1, a 20-year-old patient, was investigated after he had undergone surgical correction of truncus arteriosus I. Pulmonary arterial pressure, pulmonary flow index, peripheral systolic blood pressure and heart rate were measured before, and several times after intrapulmonary injection into the pulmonary artery of 0.5 μg nifedipine/kg. Six patients were given an additional dose of 1 μg nifedipine per kilogram into the pulmonary artery and hemodynamic measurements were repeated. In eight children, receiving 100% oxygen via a breathing mask, nifedipine effects were compared with oxygen effects. After 10 minutes under oxygen, the same hemodynamics were determined as after nifedipine. In addition, in four of these children aortic pressure and arterial oxygen saturation were also measured. Maximal effects occurred within 4 minutes. 0.5 μg nifedipine per kilogram caused a slight reduction in mean pulmonary arterial pressure (p<0.05), as well as increase in pulmonary flow index (p<0.005). However, no significant change in heart rate or in systolic blood pressure was observed. 1 μg nifedipine per kilogram IP had almost the same effects. No adverse side effects occurred, besides mild headaches in one child. A comparison of nifedipine injected into the pulmonary artery with oxygen breathing in congenital heart disease combined with pulmonary hypertension, is reported for the first time. Nifedipine had a more pronounced and beneficial effect with a selective action on the pulmonary vascular bed.

Therapeutic strategy in a 9-month-old child with pulmonary sling: Need for bronchoscopic evaluation

A 9-month-old child presented suffering from repeated severe infections of the lower respiratory tract. Bronchoscopy revealed a tracheal stenosis, suggestive of a vascular anomaly of the great arteries. A second significant stenosis of the left main stem bronchus was observed that was suspected to be due to a ligamentum arteriosum. Heart catheterization confirmed the diagnosis of an abnormal origin of the left pulmonary artery (pulmonary sling). Based on the bronchoscopic and angiographic findings a pulmonary ring was suspected. A dissection of the ligamentum arteriosum was performed. At readmission 4 weeks postoperatively the child was asymptomatic and the left main bronchus was patent.