Assessment of chronic tricuspid regurgitation by colour Doppler echocardiography: a comparison with angiography in the catheterization room.

Colour Doppler echocardiographic (CDE) assessment of tricuspid regurgitation (TR) has been limited by the lack of an accepted model against which it can be compared. Angiography is said to be inadequate because catheter placement across the tricuspid valve could induce artifactual TR. Thirty-five consecutive patients with left-sided valvulopathy and recent heart failure were studied. Angiography was validated by CDE, which demonstrated that catheter placement across the tricuspid valve did not increase the size of the regurgitant jet in the first 30 cases. All the patients were studied with CDE immediately before performing the angiography in order to compare the findings of both techniques. From all the CDE parameters measured among the angiographic groups, the jet area overlapped the least (P = 0.024). The diameters of the right cardiac chambers were larger in angiographically severe cases (P = < 0.003 to 0.041), and a scale of severity that combined jet area and right atrium area showed an excellent correlation with angiography (r = 0.924; P < 0.001). Furthermore, maximal instant systolic gradients between the right cavities, estimated by catheterization, were lower in severe cases (P = 0.038). Assessment of these gradients by continuous Doppler can enhance recognition of severe TR. The analysis of jet area, right atrium area and regurgitant gradient by CDE can provide excellent assessment of TR.

[Cytogenetic study of a family with 15p+ chromosomal plymorphism]. / Estudio citogenético de una familia con polimorfismo cromosómico 15p+.

This cytogenetic study deals with a family in which some members are carriers of 15p+ polymorphism variant, with an unusually elongated short arm. The chromosomal marker segregates in three generations, duplicating its length but without phenotypic manifestation in the carriers. An analysis by using banding techniques shows us the characteristics of the p+ region and its transmission within the family.

[A child affected by the Romano-Ward syndrome born of a mother with the Jervell and Lange-Nielsen syndrome]. / Niño afecto de síndrome de Romano-Ward nacido de madre afecta de síndrome de Jervell y Lange-Nielsen.

We report a child affected with the Romano-Ward syndrome (long QT, normal hearing), born from a mother affected with the Jervell and Lange-Nielsen syndrome (long QT plus deafmutism). We discuss the possible pathogenetic reasons for this uncommon association.

Ring chromosome 6: clinical and cytogenetic behaviour.

Several investigators have reported in vitro instability of ring chromosomes. We have evaluated the clinical and cytogenetic course over 8 years in a patient with ring chromosome 6 and found stability in this ring chromosome. The different cell lines remained constant, and the phenotype showed little variation. This syndrome seems to be related to the deletion in the ring rather than to its instability.

[Use of the recombinant DNA technic in studying cystic fibrosis in 14 Spanish families: detection of carriers and healthy subjects]. / Aplicación de las técnicas de ADN recombinante al estudio de 14 familias españolas con fibrosis quística: detección de portadores y sanos.

Fourteen Spanish families, containing at least one affected child with cystic fibrosis, were typed for restriction fragment length polymorphisms (RFLPs) by proper pJ3.11, pmet H and pmet D. Nine (64.3%) were fully informative for prenatal diagnosis and carrier detection; four (28.5%) were partially informative and prenatal exclusion of an affected fetus could be carried out in half of pregnancies. One (7.1%) was uninformative for these probes. Allelic frequencies obtained have also been analized, being pJ3.11 probe the most informative in our families.

[Association of cardiac and sternal malformations]. / Asociación de malformaciones cardiacas y esternales.

Authors has studied association between cardiac and sternal anomalies, in a series of 2,000 cases of congenital heart disease. He finds an incidence of pectus excavatum of 2.5% and pectus carinatum of 3%. Associative differences were highlysignificant, mainly that between Fallot tetralogy and pectus carinatum. Possible mechanisms responsible for those associations are discussed.

[Familial malformation recurrence in congenital heart disease]. / Recurrencia malformativa familiar en las cardiopatías congénitas.

The intensity and degree of familial association in a series of congenital heart diseases has provided 204 cases of familial malformation recurrence. There was total concordance for 27% of first degree relatives, 18.5% of those of second degree, and 9% of third degree; partial concordance was present in 15, 18 and 41%; system concordance in 27, 44, and 43%; total discordance in 31, 18.5, and 5%. Anencephaly, hydrocephaly, cleft lip-palate, pyloric stenosis, and cryptorchidism were repeatedly present with a highly significant incidence.

Cytogenetic clones in a recurrent neurofibroma.

Chromosome studies were performed on a plexiform neurofibroma arising in a probable von Recklinghausen's disease patient, who also showed a de novo constitutional reciprocal translocation, t(1;22)(p32;q11). Banding analysis of the metaphases obtained from two primary cultures in vitro showed the presence of five cytogenetic clones, characterized by different chromosomal rearrangements. In addition to t(1;22), marker chromosomes involved pairs 1, 2, 3, 5, 8, 9, 10, 12, 16, and X. These findings suggest a possible polyclonal evolution in this neurofibroma.

[Prune belly syndrome with associated anomalies and chromosome changes (20 p+)]. / Síndrome de prune belly con anomalías asociadas y alteración cromosómica (20 p+).

Authors report a boy with Prune Belly syndrome, presenting also other malformations (cardiac, encephalic, facial, plus subnormality). He presents a familial inversion of chromosome 9, and also extra material in chromosome 20 (20 p+).