Prognostic significance of clinically silent coronary artery fistulas.

Symptomatic coronary artery fistulas (CAF) are associated with significant morbidity and mortality. With the advent of high-resolution 2-dimensional and color Doppler echocardiography, the detection rate of clinically silent CAF has increased, but their clinical significance and outcome have not been defined. The clinical, echocardiographic, electrocardiographic, and angiographic findings and documented follow-up of 31 patients with an echocardiographic finding of a clinically silent coronary artery fistula from 1986 to 1997 were analyzed. Mean age at diagnosis was 7.2+/-8.4 years. Indications for echocardiography were murmur (n = 23), congenital heart disease (n = 2), cardiomegaly (n = 2), chest pain (n = 1), stridor (n = 1), syncope (n = 1), and chest trauma (n = 1). CAF were detected with color Doppler flow mapping in all patients. The origin of the fistula was from the left coronary artery system (n = 27), right coronary artery system (n = 3), and bilateral (n = 1). The exit sites were the pulmonary artery (n = 18), right ventricle (n = 8), right atrium (n = 2), and left ventricle (n = 3). Global and regional left ventricular function were normal in all patients at presentation and follow-up. Spontaneous closure of the fistula was documented in 7 patients (23%) at mean follow-up of 2.6+/-2.0 years. In 23 patients the fistula persisted without intervention. All patients remained asymptomatic, without adverse clinical events or evidence of ischemia at a mean age at follow-up of 9.3+/-9.1 years (range 4 months to 42.0). Based on this experience, there is no evidence that clinically silent CAF diagnosed incidentally by color Doppler echocardiography are associated with adverse clinical outcome in childhood and adolescence. Conservative management with continued follow-up of these patients appears to be appropriate.

Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is a disorder of fatty acid beta oxidation that reportedly has high rates of morbidity and mortality. We describe the outcome of a 5-year-old girl with VLCAD deficiency who was first seen at 5 months of age with severe hypertrophic cardiomyopathy, hepatomegaly, encephalopathy, and hypotonia. Biochemical studies indicated VLCAD deficiency caused by a stable yet inactive enzyme. Molecular genetic analysis of her VLCAD gene revealed a T1372C (F458L) missense mutation and a 1668 ACAG 1669 splice site mutation. After initial treatment with intravenous glucose and carnitine, the patient has thrived on a low-fat diet supplemented with medium-chain triglyceride oil and carnitine and avoidance of fasting. Her ventricular hypertrophy resolved significantly over 1 year, and cognitively, she is in the superior range for age. Clinical recognition of VLCAD deficiency is important because it is one of the few directly treatable causes of cardiomyopathy in children.

Diagnosis and management of infantile marfan syndrome.

Marfan syndrome is infrequently diagnosed early in infancy. The experience of the authors with 22 severely affected infants diagnosed as having Marfan syndrome in the first 3 months of life is described and the literature on 32 additional infants with Marfan syndrome is reviewed. It was found that serious cardiac pathology (82% of the patients described in the article, 94% of those described in the literature) may be present at birth, and that congenital contractures (64% of our cases, 47% of literature cases) are often an associated finding. Other useful clinical findings included arachnodactyly, dolichocephaly, a characteristic facies, a high-arched palate, micrognathia, hyperextensible joints, pes planus, anterior chest deformity, iridodenesis, megalocornea, and dislocated lenses. Echocardiography was useful as a noninvasive method for defining the extent of cardiovascular involvement and following its course. Characteristic cardiac findings in early life included mitral valve prolapse, valvular regurgitation, and aortic root dilation. Cardiac function ranged from normal to poor, with a tendency to worsen. Of the 22 cases 3 infants died during the first year of life. Morbidity and mortality may be high when Marfan syndrome is diagnosed during infancy, and prompt recognition of this phenotype can facilitate management and counseling. Most such severe cases appear to be due to a sporadic mutation in a single germ cell of one parent. Many familial cases may have milder manifestations, be more difficult to detect during infancy, and have a better prognosis.

Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome.

Since the clinical, 2-dimensional and Doppler echocardiographic and pathologic findings in infantile Marfan syndrome have not been documented in detail, a study of 9 such infants was performed. The previously reported 64 cases were reviewed and the salient findings in 22 additional cases were discussed. The age at diagnosis in our 9 cases ranged from birth to 12 months (mean 2.7 months). Mitral valve prolapse was demonstrated in all, with mitral regurgitation in 8. Tricuspid valve prolapse was present in 8, with tricuspid regurgitation in 6. Marked aortic root dilatation was present in all, and was progressive. The aortic root assumed a "clover leaf" appearance in the parasternal short-axis view. Aortic regurgitation was documented initially in 1 patient, and developed during follow-up in 4 of 7 infants. Dilation of the pulmonary arterial root and pulmonary regurgitation were found in 3 of 7 infants. Severe heart failure associated with mitral or tricuspid regurgitation was present in 7 of the 9 patients. Four infants died during the first year of life. The salient pathologic features were myxomatous thickening and redundancy of the mitral and tricuspid leaflets, marked elongation of chordae tendineae and prominent dilatation of the aortic and pulmonary roots. Histologically, the collagen and elastic fibers were severely disrupted, disarrayed and fragmented with increased interstitial ground substance. These data document that infantile Marfan syndrome is characterized by clinical and morphologic features that are distinctly different from the classic syndrome seen in adolescents and adults. The aforementioned findings should facilitate early clinical and echocardiographic diagnosis of infantile Marfan syndrome.

Late results in patients with tetralogy of Fallot repaired during infancy.

Between 1973 and 1985, 220 infants (age 1 day to 18 months, mean = 7 months) underwent repair of tetralogy of Fallot (TOF) or TOF/pulmonary atresia with 17 early deaths. Follow-up status was ascertained for 184 of 203 survivors (91%) at a postoperative interval of 2 to 185 months (mean = 60 months). Significant residual hemodynamic lesions included ventricular septal defect in three, and right ventricular outflow gradient in excess of 40 mm Hg in 24. Reoperation or interventional catheter procedures were performed in 31 of 184 (17%) patients. All postoperative electrocardiograms were reviewed; only two of 184 patients had ventricular ectopy on any tracing. Holter data from 41 patients revealed one with sinus node dysfunction, 12 with Lown grade 1 ectopy, and one with Lown grade 2 or greater. Conduction defects, evaluated by electrocardiographic and electrophysiologic measurements, were not different from those reported for TOF patients undergoing repair at later ages. No study patient received antiarrhythmic medication, although one required a pacemaker for sinus node dysfunction. There were three late deaths, all unrelated to arrhythmia. TOF repair in infancy appears to be associated with an acceptable hemodynamic outcome, and a low incidence of ventricular ectopy and sudden death at 5 year follow-up.

Sleep apnea in a child with the pickwickian syndrome.

A 3-year-old girl with a history of excessive weight gain from birth presented with obesity, somnolence, and cyanosis, characteristic of the Pickwickian syndrome. Obesity was familial and exogenous without endocrine or neurologic anomaly. Respiratory center sensitivity to carbon dioxide was normal. Excessive somnolence was due to the obesity, which during sleep caused airway obstruction, apnea, and awakening, finally resulting in sleep deprivation. The sleep apneas and the daytime somnolence disappeared with weight reduction, showing that obesity alone had been responsible for the disorder.