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PubMed1980

The Down syndrome in the fetus.

A significant number of fetuses with the Down syndrome are spontaneously lost before birth; however, very few such fetuses have been described. In the present study, 13 fetuses of 127--180 mm in crown-rump length were examined following amniocentesis diagnosis of trisomy 21 and therapeutic abortion. Four features, i.e., simian crease, clinodactyly, septal heart defects, and decreased size, were found to be relatively common in trisomy 21 fetuses as compared to controls. Other features were found to be less useful in identification. We conclude that the presence of two of the four features noted above is suggestive of trisomy 21 in the fetus.

Dermatoglyphics↗
PubMed1978

Teratogenic action of bis(dichloroacetyl)diamine on rats: patterns of malformations produced in high incidence at time-limited periods of development.

Win 18,446, a bis(dichloroacetyl)diamine, is a drug that was previously shown to suppress spermatogenesis and to be an effective oral abortifacient in rats. The present study shows that the drug is capable of producing characteristic congenital malformations in high incidence, by a single treatment, and with high survival of fetuses to day 21. Gestation day 11 is the most sensitive time. The teratologies obtained after various schedules of treatment include malformations of the snout (100%), septal heart defects (100%) diaphragmatic hernias (100%), cryptorchism (100%), cervical pockets (100%) and absent or small irregular thymus (92%). Some of these data, namely of the heart, face and thymus, cluster in patterns that indicate that the action of the drug is upon a time-resistricted developmental process. These periods of sensitivity are subsiding or have ended before primordia of these structures appear, but they coincide with the proliferation and migration of those mesenchyme cells that will eventually form or contribute to the structures affected. It is postulated that the drug acts on these mesenchyme cells, or on the extracellular matrix that provides the necessary framework for their dispersal.

Abnormalities, Drug-Induced↗
PubMed1990

Cross-sectional echocardiography in the diagnosis of atrioventricular septal defect.

Between 1983-1988 cross-sectional echocardiography was performed in 63 patients having an atrioventricular septal defect with common atrioventricular orifice. We excluded from this study all those patients with separate right and left orifices ("ostium primum" defects), those with isomerism of the right and left atrial appendages, those with univentricular atrioventricular connexions and those with discordant atrioventricular and ventriculo-arterial connexions. Parasternal long- and short-axis views, apical 4-chamber views and subcostal long-axis views were employed in all patients. In the last 26 cases, we also obtained the subcostal short-axis view. Nineteen patients showed ventricular dominance, with the right ventricle being dominant in 15. Ten patients had an associated defect in the oval fossa, while the atrial septum was partially or completely absent in the other 53. A ventricular septal defect was observed in all, but it was small in 10 and multiple in 2. Attachments of the superior and inferior bridging leaflets to the crest or the right side of the ventricular septum were seen in 32 cases. The inferior leaflet was hypoplastic in 19 patients. There was narrowing of the left ventricular outflow tract in 8 patients, and obstruction of the right ventricular outflow tract in 3. Abnormal attachment of the right portion of the common valvar orifice was present in 2 cases. A solitary papillary muscle supporting the left ventricular component of the common valve was seen in 6 cases producing a parachute-like arrangement. Our study shows that cross-sectional echocardiography is an excellent technique for the analysis of this anomaly.

Child, Preschool↗
PubMed1986

Atrioventricular septal defects: cross-sectional echocardiographic and morphologic comparisons.

We examined the cross-sectional echocardiographic findings of 171 patients with atrioventricular septal defects. The echocardiographic findings were confirmed by angiography, surgery and/or autopsy. The echocardiographic findings determined whether the common atrioventricular junction was guarded by a common valve or separate right and left valves. In addition, we were able to judge whether the bridging leaflets were related to the septal structures so as to permit both interatrial and interventricular communications [127 cases] or whether the interatrial communication ("ostium primum atrial septal defect") [43 cases] or an interventricular communication [1 case] existed in isolation. Defects existing with a common atrioventricular valve could be further classified as having minimal bridging of the antero-superior leaflet (Rastelli Type A [113 cases]); intermediate bridging (Rastelli Type B [3 cases]); or extreme bridging (Rastelli Type C [11 cases]). Of the patients with Down's syndrome, 9 had separate right and left valves while 66 had a common valve, all the latter existing in the setting of minimal bridging of the antero-superior leaflet. In the overall group, there were 9 cases having an unbalanced ventricular mass, 5 with right ventricular dominance and 4 with left dominance. Other associated defects were common. The echocardiographic findings were supplemented by pulsed Doppler examination. Atrioventricular valve insufficiency, when mild, was frequently demonstrated only in the right atrium just above the leaflets of the atrioventricular valve. When there was more severe valve insufficiency the regurgitant jet could be detected for greater distances behind the atrioventricular valve and in either or both atria, but more frequently in the left atrium. As might be anticipated in view of the complexity of the lesion, a combined imaging approach yielded the most accurate results.

Adolescent↗
PubMedDate not supplied

Effect of palliative and corrective surgery on ventricular volumes in complete atrioventricular canal.

The effect of pulmonary artery banding (PAB) and intracardiac repair on ventricular volumes was studied in 35 patients with uncomplicated complete atrioventricular canal (CAVC). Right ventricular (RV) and left ventricular (LV) end-diastolic volumes (EDV), determined from biplane cineangiograms using Simpson's rule, were expressed as a percent of normal mean (% Nl) for body surface area; normal range (mean +/- 1SD) is equivalent to 75%-125% Nl. In preoperative studies (RV 26, LV 33), EDV averaged 149 +/- 51% and 184 +/- 50% Nl, respectively, P vs Nl less than 0.001 for both. In one of 26 patients, RV was very small (45% Nl), and one of 33 had a small LV (70% NI). In 13 patients studied post-PAB, RVEDV and LVEDV were lower than in the preoperative group (P less than 0.001) and averaged 114 +/- 40% and 126 +/- 52% Nl, respectively. In three of 13, RV was small (67% and 71% Nl) or very small (56% Nl). Three others had a small (71% and 67% Nl) or very small (56% Nl) LV. In serial pre- and post-PAB studies (RV 9, LV 11), EDV was increased or normal in all preoperatively. In seven of nine, RVEDV decreased, falling below normal range in three. In eight of 11, LVEDV decreased, falling below normal in three. Following repair, RV and LVEDV averaged 80 +/- 20% Nl and 126 +/- 23% Nl, respectively, in seven patients. Four of the seven had RVEDV below normal range. Two patients with a small ventricle had intracardiac repair and did well.(ABSTRACT TRUNCATED AT 250 WORDS)

Cardiac Output↗
PubMed1985

Straddling atrioventricular valve: two-dimensional echocardiographic diagnosis, classification and surgical implications.

The usefulness of subclassifying the anatomic variations of straddling and overriding atrioventricular (AV) valve by 2-dimensional echocardiographic observation were evaluated. Chordae straddling into a contralateral ventricle were subdivided into type A (chordae inserting into the contralateral ventricle near the crest of the ventricular septum), type B (chordae inserting along the contralateral ventricular septum) and type C (chordae inserting into the free wall or papillary muscles of the contralateral ventricle). Overriding AV valve anulus was described as minor (less than 50% of the anulus committed to the contralateral ventricle), major (about 50% of the anulus committed to each ventricle), and double-inlet ventricle (greater than 50% of both AV valves committed to a single ventricular chamber). In 52 patients straddling AV valve was diagnosed by echocardiography and confirmed by direct examination at surgery or autopsy. In 60 of 66 straddling AV valves (91%), the diagnosis and the degree of straddling (type A, B or C) were correctly identified by 2-D echocardiography. Major associated cardiac defects included double-outlet right ventricle (31%), complete transposition (23%), corrected transposition (19%), double-inlet ventricle (19%) and other complex defects (8%). Twenty-two patients (42%) had right-sided straddling, 21 (40%) had left-sided straddling and 9 (17%) had straddling of both AV valves. In 41% of the patients, straddling AV valve had a major impact on the type of surgery or the surgical outcome. Of these valves, 52% were type C (severe), 26% type B and 22% type A straddling.(ABSTRACT TRUNCATED AT 250 WORDS)

Chordae Tendineae↗
PubMed2007

Surgical management of pulmonary atresia with ventricular septal defect in late adolescence and adulthood.

OBJECTIVE: In presence of adequate pulmonary blood flow, patients presenting with unoperated or palliated pulmonary atresia with ventricular septal defect (PA/VSD) can reach adult age. However, they remain symptomatic with a limited life expectancy. METHODS: Since 1993, 27 patients underwent surgery for unrepaired PA/VSD. Median age was 20 (range: 15-43) years. Nineteen patients had 33 previous palliative procedures while eight were unoperated survivors. Major aortopulmonary collateral artery (MAPCA) had been observed in all but 2 and were still patent in 23. All bronchopulmonary segments were connected to the native pulmonary arteries (NPA) in 4 (type A), to both NPA and MAPCA in 18 (type B) and only to MAPCA in 5 (type C). The biventricular repair was performed in 17 patients: 3 type A, 12 type B and 2 type C. Ten patients underwent palliative procedure: eight aortopulmonary shunt, with unifocalisation in two and one right ventricle to NPA restrictive conduit. RESULTS: One (4%) hospital death occurred following the failure of a palliative procedure. No clinical improvement was observed in seven patients including one repaired and six palliated survivors. Two late cardiac death occurred 1 and 7 years after repair. At last visit, 15 of 16 repaired survivors were in NYHA class I or II. Only one patient awaits septation, while eight other with subsequent palliation were considered not repairable. CONCLUSION: The outcome was encouraging in patients who were eligible for completed biventricular repair. Although considered as unique alternative to cardiopulmonary transplantation, the justification for palliative surgery to improve pulmonary blood flow remains to be established.

Adolescent↗
PubMedDate not supplied

The anatomy of a collection.

An old collection of 81 congenitally malformed hearts was examined in detail using the system of sequential segmental analysis. The specimens were almost entirely from infants and young children who had died during the two decades between 1954 and 1973. There had been surgical intervention in 26 cases, and most of these patients died during or shortly after the operation. The various anomalies are listed, and the pattern of prevalence is contrasted to that of present-day collections. Among the many interesting specimens there was a fine example of one of the rarest of cardiac anomalies, a criss-cross arrangement of atrioventricular connections. The collection, as an entity, gives an interesting historical insight of the state of congenital heart disease during the early years of the development of cardiac surgery.

Adolescent↗