Consequences of a selective approach toward pulmonary valve replacement in adult patients with tetralogy of Fallot and pulmonary regurgitation.

OBJECTIVE: The aim of the study was to assess the long-term results of a selective policy toward pulmonary valve replacement in adult patients with repaired tetralogy of Fallot and severe pulmonary regurgitation. METHODS: Sixty-seven patients with tetralogy of Fallot were followed up from 15 +/- 3 years until 27 +/- 3 years after surgery. RESULTS: Twenty-two patients had mild-to-moderate pulmonary regurgitation. No significant changes occurred in the follow-up period. Of 45 patients with severe pulmonary regurgitation and severe right ventricular dilatation, 28 (62%) remained free of symptoms and did not undergo pulmonary valve replacement. No changes in right ventricular size or exercise capacity were found. In 3 (11%) of 28 patients, QRS duration increased to more than 180 ms. Seventeen patients had symptoms and underwent pulmonary valve replacement: 9 (54%) of 17 patients improved clinically and echocardiographically, and QRS duration shortened postoperatively. Right ventricular dimensions did not regress despite pulmonary valve replacement in 8 patients. CONCLUSION: Refraining from pulmonary valve replacement in asymptomatic patients led to no measurable deterioration in 25 (89%) of 28 patients. Referring symptomatic patients for pulmonary valve replacement led to an improvement in 9 (53%) of 17 patients. In 11 (24%) of 45, a selective approach led to questionable or unsatisfactory results.

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.

We report a three-generation family with nine patients affected by a combination of cardiac abnormalities and left isomerism which, to our knowledge, has not been described before. The cardiac anomalies include non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. The laterality sequence anomalies include left bronchial isomerism, azygous continuation of the inferior vena cava, polysplenia and intestinal malrotation, all compatible with left isomerism. This new syndrome is inherited in an autosomal dominant pattern. A genome-wide linkage analysis suggested linkage to chromosome 6p24.3-21.2 with a maximum LOD score of 2.7 at marker D6S276. The linkage interval is located between markers D6S470 (telomeric side) and D6S1610 (centromeric side), and overlaps with the linkage interval in another family with heterotaxy reported previously. Taken together, the genomic region could be reduced to 9.4 cM (12 Mb) containing several functional candidate genes for this complex heterotaxy phenotype.