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An infant case of Ebstein's anomaly of the tricuspid valve with abnormal diastolic filling pattern of the left ventricle.

We report herein an infant case of Ebstein's anomaly with abnormal diastolic filling pattern of the left ventricle. We also compare the case with a comparable case without such abnormal filling pattern. The patient, who had pulmonary valve stenosis, patent ductus arteriosus and mild mitral regurgitation, underwent transventricular valvotomy at 30 days of age. Postoperative course was uneventful. Serial Doppler echocardiographic studies were performed at 2 hr, 40 days, and 52 days of age. Peak velocity and flow velocity-time integral of early diastole, and ratios of the peak velocities and velocity time integrals of the early diastole and atrial contraction were below the 95% confidence limits of the normal controls. Our case suggests that left ventricular diastolic dysfunction may exist in the Ebstein's anomaly when it is associated with mitral valve abnormality such as mitral regurgitation.

Diastole↗

Mutation screening in juvenile polyposis syndrome.

Juvenile polyposis syndrome (JPS) is an autosomal dominant cancer predisposition syndrome characterized by congenital anomalies, hamartomatous polyps in the gastrointestinal tract, and the development of tumors in these tissues. The diagnosis of JPS is often difficult because of the phenotypic overlap with other hamartomatous polyposis syndromes. Germline mutations have been identified in MADH4 and BMPR1A, aiding in presymptomatic genetic testing. In this study, we describe the results from 3 years of molecular diagnostic screening in JPS. Seventy unrelated individuals referred to our lab for JPS testing were examined through the sequence analysis of coding regions and exon-intron boundaries in both genes. Germline mutations were identified in 30% of cases, with 11.4% in BMPR1A and 18.6% in MADH4. All mutation-positive individuals were negative for cancer at testing, and a single pulmonary valve stenosis was the only congenital anomaly reported. A majority of mutations identified were novel including the first splice site alteration in MADH4. Based on the limited number of exons in each gene, low polymorphism frequency, and high frequency of frameshift or nonsense mutations identified, direct sequence analysis is a suitable methodology for mutation screening if all coding regions and exon-intron boundaries are examined in both genes.

Adult↗