Fetal echocardiographic prediction score for perinatal mortality in tricuspid valve dysplasia and Ebstein's anomaly.

OBJECTIVES: Tricuspid valve dysplasia (TVD) and Ebstein's anomaly (EA) diagnosed by fetal echocardiography vary greatly in terms of clinical severity and prognosis. The Celermajer index and Simpson-Andrews-Sharland (SAS) score have been reported previously for the prediction of prognosis in cases of TVD/EA; however, they do not take into account the hemodynamic impact of left ventricular (LV) function, which has recently been implicated as being important in the pathophysiology of TVD/EA. The aim of this study was to develop a novel scoring system that includes LV function for the prediction of perinatal death in fetuses diagnosed with TVD/EA. METHODS: The clinical records of 36 fetuses diagnosed prenatally with TVD/EA between 2000 and 2015 in our hospital were reviewed. Univariate analysis was used to assess the association between perinatal death (defined as death between 22 weeks' gestation and 4 weeks after delivery) and gestational age at diagnosis, cardiothoracic area ratio (CTAR), degree of pulmonary artery flow, direction of ductal flow, right-to-left ventricular diameter ratio, tricuspid regurgitation (TR) maximum velocity, Celermajer index, SAS score and LV-Tei index. A new prognostic score, the TRIPP score (TRIcuspid malformation Prognosis Prediction score), was developed using the parameters found to be associated significantly with perinatal death. The predictive value of this score was assessed in an additional nine fetuses diagnosed with TVD/EA. RESULTS: Thirty-six fetuses were diagnosed prenatally with TVD/EA, two of which were terminated, one was lost to follow-up and two died before 22 weeks' gestation. Of the 31 included fetuses, 10 (32%) died in the perinatal period. Univariate analysis demonstrated that TR maximum velocity was significantly lower (2.22 ± 0.17 m/s vs 3.26 ± 0.12 m/s; P < 0.001) and SAS score was significantly higher (5.7 ± 0.6 points vs 2.8 ± 0.4 points; P = 0.0014) in cases of perinatal death than in surviving fetuses. The degree of pulmonary artery flow and the direction of ductal flow were also associated significantly with perinatal death (P < 0.01 for both). Notably, LV-Tei index was significantly higher in cases of perinatal death than in surviving fetuses (0.81 ± 0.08 vs 0.50 ± 0.05; P < 0.001). In contrast, there was no significant difference in Celermajer index, CTAR or right-to-left ventricular diameter ratio. Finally, we established a novel combinatorial scoring system, the TRIPP score, including the four significant factors: TR maximum velocity, pulmonary artery flow, direction of ductal flow and LV-Tei index. The TRIPP score was found to predict efficiently perinatal mortality in fetuses with TVD/EA. CONCLUSIONS: Our novel combinatorial score of echocardiographic parameters, the TRIPP score, including LV-Tei index, is easy to measure and provides a good tool for the prediction of perinatal mortality in fetuses diagnosed prenatally with TVD/EA. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

'Post-LA space index' as a potential novel marker for the prenatal diagnosis of isolated total anomalous pulmonary venous connection.

OBJECTIVES: To review the fetal echocardiograms of patients with total anomalous pulmonary venous connection (TAPVC) in order to determine whether the distance between the left atrium and the descending aorta would be useful in the prenatal diagnosis of fetal TAPVC. METHODS: We reviewed the fetal echocardiograms of eight cases of TAPVC (five supracardiac type and three infracardiac type) with no other cardiac malformations. We evaluated the ratio of the left atrium-descending aorta distance to the diameter of the descending aorta ('post-LA space index') in 101 normal and eight TAPVC fetuses, and compared the values between groups. In addition, we examined the tricuspid valve/mitral valve diameter ratio (TVD/MVD) and the right ventricular end-diastolic diameter/left ventricular end-diastolic diameter ratio (RVDd/LVDd). RESULTS: The echocardiograms for fetuses with TAPVC and normal fetuses were performed at mean gestational ages of 27.5 weeks and 29.6 weeks, respectively. There were no significant differences in the TVD/MVD and RVDd/LVDd ratios between the groups. However, the post-LA space index was significantly higher in the TAPVC cases (mean, 1.51) than it was in the normal fetuses (mean, 0.71 ± 0.23) (P < 0.0001). On an analysis of the receiver-operating characteristics curve, a post-LA space index cut-off of 1.27 was found to be optimal for distinguishing between TAPVC and normal hearts, with a sensitivity of 100% and specificity of 99%. CONCLUSIONS: The novel post-LA space index could potentially be used for the prenatal diagnosis of TAPVC. A diagnosis of TAPVC is very likely in cases with a post-LA space index of > 1.27.

'I-shaped' sign in the upper mediastinum: a novel potential marker for antenatal diagnosis of d-transposition of the great arteries.

OBJECTIVES: To investigate the 'I-shaped' sign as a novel echocardiographic marker for antenatal diagnosis of d-transposition of the great arteries (dTGA) in routine cardiac examination, and to compare its prevalence in fetuses with dTGA, those with other congenital heart diseases (CHDs) and those with normal structural hearts. METHODS: This retrospective evaluation involved 1134 fetuses undergoing echocardiography to screen for CHD over a 4-year period. I-shaped sign was defined as the characteristic appearance of the aortic arch, resembling the letter 'I', from the most anterior to the most posterior point of the descending aorta visible in the three vessels and trachea view. The frequency of this sign was evaluated in cases with dTGA, those with other cardiac defects and those with normal cardiac structures. RESULTS: CHD was diagnosed in 671 (59.1%) cases, of which 31 (4.6%) had dTGA. I-shaped sign was observed in 30/31 (96.8%) cases of dTGA, compared with 31/640 (4.8%) cases with other cardiac anomalies, which included single ventricle with pulmonary atresia or severe pulmonary stenosis, hypoplastic left heart syndrome with aortic atresia, corrected transposition of the great arteries, and double outlet right ventricle with malposition of the great arteries. I-shaped sign was detected significantly more frequently in the dTGA group compared with the normal group and with the other CHDs group (both P < 0.001) and had 96.8% sensitivity and 97.1% specificity for diagnosis of dTGA. Importantly, I-shaped sign was never observed in fetuses with structurally normal hearts. CONCLUSIONS: Detection on echocardiography of an extremely long vessel with a marked I-shape should raise suspicion of cardiac anomaly, especially dTGA. This marker may therefore aid in the prenatal diagnosis of dTGA during routine ultrasound examination.

[Long term outcome of arterial switch surgery for transposition of the great arteries: evaluation of the reconstruction of the pulmonary artery].

We assessed the effect of reconstructing the pulmonary artery during arterial switch surgery for transposition of the great arteries on late pulmonary stenosis. Sixty-five patients who underwent Lecompte procedure between September 1991 and December 2006 were divided, by the procedure used chronologically to reconstruct the pulmonary artery, into group XP (single pantaloon patch with equine pericardium, n = 11), group P (direct reconstruction, n = 47), and group AP (single pantaloon patch with fresh autopericardium, n = 7). Outcome and pulmonary stenosis on the most recent ultrasound cardiography (UCG) were compared in the 3 groups. The median follow-up was 13, 7.5, and 1.3 years, respectively. Both early and late mortalities were 1.5% (1/65). Although percutaneous trans-pulmonary angioplasty was necessary in 1, 13, and 3 patients, there was 1, 1, and 0 reoperation for pulmonary stenosis in the 3 groups, respectively. Pulmonary stenosis (pulmonary arterial maximum flow velocity > 3 m/sec on UCG) was present in 4 (40%). 14 (30%). and 3 patients (43%). Although there was no significant difference among the 3 procedures in preventing pulmonary stenosis 10 years after arterial switch surgery, direct reconstruction of the pulmonary artery may show a superior outcome, in particular, over 10 years after arterial switch surgery.

New indicator for the Fontan operation: diameters of the pulmonary veins in patients with univentricular heart.

BACKGROUND: Operative survival after the Fontan procedure is good; however, there are some patients with disappointing results, especially those with atrial isomerism. OBJECTIVES: We tested whether the diameter of the pulmonary veins, which is reported as a useful indicator of pulmonary blood flow, predicts operative results after the Fontan operation. PATIENTS AND METHODS: We evaluated 30 consecutive patients undergoing either the bidirectional Glenn anastomosis (BDG) or the Fontan operation. Age at operation ranged from 3 to 81 months (mean 30). Diagnosis was right or left isomeric heart in 15 patients, double-outlet right ventricle in 4 and various other malformations in 11. BDG was performed in 16 patients and the Fontan operation in 14 patients. The diameters of the pulmonary veins were measured proximal to the entrance into the atrium in the late phase of a pulmonary arteriogram. The pulmonary vein (PV) index (in mm2/m2) was calculated from the sum of the cross-sectional areas of these veins divided by the body surface area. RESULTS: Of the patients undergoing BDG (+/- ancillary procedures), 12 had successful results and 4 had unsuccessful results. The PV index for hemodynamically successful patients was 361 +/- 153 and 275 +/- 60 mm2/m2 (mean +/- SD) for unsuccessful patients (p = 0.30). Of the patients who underwent the Fontan operation, 13 had successful and 1 had unsuccessful results. The PV index for successful patients was > 285 mm2/m2 and 137 mm2/m2 for the nonsuccessful patients. The new pulmonary vascular resistance (PVR) calculated by using the PV index (mean pressure difference between the pulmonary artery and the atrium/PV index) for BDG patients with successful or unsuccessful results was 2.0 +/- 0.5 or 3.5 +/- 0.2 mmHg/mm2 per m2, respectively (p < 0.01). The new PVR for Fontan patients with successful results was < 2.0 mmHg/mm2 per m2, while that for the patient with an unsuccessful result was 4.4. The new PVR completely separated patients into successful and unsuccessful groups, while conventionally calculated PVR did not (p = 0.63). CONCLUSIONS: PV index appears to be a useful morphological indicator of pulmonary blood flow and "new" PVR may improve the decision-making strategy for patients presenting with univentricular heart, especially those associated with isomeric heart.

Repair of left ventricular diverticulum with ventricular bigeminy in an infant.

Surgical repair of left ventricular diverticulum usually is not required in infancy even though it combines with other anomalies. In addition to prevention of rupture of the diverticulum and thrombus formation, treatment of combined ventricular tachycardia is thought to be an indication for resection of the diverticulum. We describe a successful repair performed by excising the isolated left ventricular diverticulum under cardiopulmonary bypass in a 9-day-old infant. The combined ventricular bigeminy has disappeared 9 months after the operation.

Pulmonary and systemic arteriovenous fistulas in patients with left isomerism.

Hepatic venous blood has been thought to play some role as a vasoactive agent in the development of pulmonary arteriovenous fistulas in patients with congenital heart disease. During the last 15 years, we have observed pulmonary arteriovenous fistulas in 3, and systemic arteriovenous fistulas in 2, patients from our 16 cases of left isomerism. During the same period, neither pulmonary nor systemic arteriovenous fistulas were detected among 50 patients with right isomerism. Pulmonary arteriovenous fistulas had developed in the absence of surgery in 1 of the patients. Both pulmonary and systemic fistulas were detected in an another patient, in whom the hepatic venous blood bypassed the pulmonary circulation. The level of somatostatin, which is known to reduce splanchnic blood flow, was high in the systemic venous blood of this patient. Although the mechanism of development of the fistulas has yet to be clarified, we should be aware that not only pulmonary, but also systemic arteriovenous fistulas can be found in patients with left isomerism, even prior to any surgical intervention.

Diameters of the pulmonary arteries and veins as an indicator of bilateral and unilateral pulmonary blood flow in patients with congenital heart disease.

OBJECTIVES: This study was done to clarify which diameter, that of the pulmonary arteries (PAs) or that of the pulmonary veins (PVs), more precisely reflects pulmonary blood flow (PBF) bilaterally and unilaterally. METHODS: To evaluate bilateral PBF, we studied 15 consecutive patients with Kawasaki disease as normal patients and 30 patients with tetralogy of Fallot who received cardiac catheterization. To evaluate unilateral PBF, 20 patients with various congenital heart diseases undergoing cineangiography and lung perfusion scintigraphy were studied. The diameter of PA was measured immediately proximal to the origin of the first lobar branches bilaterally, and right PA area, left PA area, PA area (mm2), and PA index (mm2/m2) were calculated. The diameter of PV was also measured distal to the junction with the left atrium. Right PV area, left PV area, PV area (mm2), and PV index (mm2/m2) were calculated from these diameters. Pulmonary blood flow (PBF) was obtained by the Fick method during catheterization. To evaluate unilateral PBF, PBF was divided into right and left PBF according to the right/left perfusion ratio measured by lung perfusion scintigraphy. RESULTS: Evaluation of bilateral PBF was as follows: in normal patients, PA and PV areas were correlated with body surface area (r = 0.88, p = 0.0001 and r = 0.93, p = 0.0001); PA index and PV index ranged from 248 to 436 (mean = 343) mm2/m2 and from 346 to 595 (mean = 466) mm2/m2, respectively, and were constant irrespective of body surface area; PA and PV areas were correlated with PBF in normal patients, as well as in patients with tetralogy of Fallot. There was a better correlation between PV area and PBF than between PA area and PBF in normal patients, as well as a significantly better correlation in patients with tetralogy of Fallot. Evaluation of unilateral PBF was as follows: right PV area was correlated with right PBF (p = 0.0002), while right PA area was not; left PV area and left PA area were correlated with left PBF; right/left PV area ratio was correlated with the right/left perfusion ratio with better agreement than right/left PA area ratio. CONCLUSION: Our data suggest that the size of PVs in patients with congenital heart disease may be more useful than the size of PAs to indicate bilateral and unilateral PBF than the size of PAs. Differences in PV area of each lung may be a suitable indicator of discrepancy in blood flow to each lung.

Morphologic analysis of common atrioventricular valves in patients with right atrial isomerism.

The objective of the study was to examine the relation between the morphology of the common atrioventricular valve and regurgitation of the valve in patients with right atrial isomerism. We examined seven consecutive patients with documented right atrial isomerism who subsequently underwent postmortem examination during a 10-year period. The degree of regurgitation and the diameters of the common valve were evaluated via cineangiography, and the site of regurgitation was evaluated by echocardiography. The morphology of the common atrioventricular valve was assessed further at autopsy. Cineangiography revealed valve diameters ranging from 14.8 to 27.8 mm (mean 20.9 mm). Valvar regurgitation was revealed within 2 months of birth in all patients. Regurgitation abruptly worsened in three patients after placement of a Blalock-Taussig shunt or a central shunt and postintubation. Autopsies revealed that the common atrioventricular valve consisted of four leaflets in five patients, and three leaflets in two. The anterior leaflets were large and protruding in all patients, and the lateral leaflets were thickened in six. All patients had a mass consisting of the left lateral leaflets and chordae with direct attachment of the chordae to the ventricular muscle (the right lateral leaflet was attached to the ventricular muscle and immobile in one patient). The lateral leaflets clung to the ventricular wall and exhibited poor movement in six patients. Leaflets with poor mobility corresponded to the regurgitant valvar site as assessed by echocardiography in six patients; and the regurgitation in three patients with acute deterioration occurred at the valvar side with poor mobility. It is concluded that the common atrioventricular valve in patients with right atrial isomerism has morphologic characteristics that may be associated with valvar regurgitation and malignant potential for abrupt deterioration after replacement of systemic-pulmonary shunting.

Optimal degree of pulmonary artery banding--adequate circumference ratio to calculated size from normal pulmonary valve dimensions.

These findings suggest that PA banding may be suitable in children with congenital heart disease and excessive pulmonary flow, and that best results are obtained when the band circumference is < 90% of the standard pulmonary valve-ring circumference, as calculated from an equation derived from normal pulmonary valve dimensions. This guideline applies equally well to small infants weighing < 3 kg and to larger patients.

Isolation and characterization of a novel gene deleted in DiGeorge syndrome.

The region commonly deleted in DiGeorge syndrome (DGS) has been localized at 22q11.1-q11.2 with the aid of a high resolution banding technique. A 22q11 specific plasmid library was constructed with a microdissection and microcloning method. Dosage analysis proved three of 144 randomly selected microclones to detect hemizygosity in two patients with DGS. Two of the clones were found to contain independent low-copy-number repetitive sequences, all of which were included in the region deleted in the DGS patients. Screening of the cosmid library and subsequent cosmid walking allowed us to obtain two cosmid contigs corresponding to the microclones within the deletion (contig 1 and contig 2), whose order fluorescence in situ hybridization identified as centromere-contig 1-contig 2-telomere on 22q. By direct selection strategy using one of the cosmids of contig 1, a 4.3 kb cDNA was obtained from fetal brain cDNA library. Sequence analysis of the cDNA revealed an open reading frame encoding 552 amino acids which had several characteristics of DNA-binding proteins. The gene, designated LZTR-1, which was transcribed in several essential fetal organs, proved to be hemizygously deleted in seven of eight DGS patients or its variants, but not in one DGS patient and GM00980. Although LZTR-1 does not locate in the shortest region of overlap, several of its structural characteristics identifying it as transcriptional regulator suggest that it plays a crucial role in embryogenesis and that haploinsufficiency of this gene may be partly related to the development of DGS.

Open heart operation in a young child with spherocytosis.

Open heart operations on patients with hereditary spherocytosis have been reported rarely. Young children who have not yet undergone splenectomy have a high risk of intraoperative hemolysis because of the heart-lung machine and secondary renal failure. We report the case of a 15-month-old child with spherocytosis who underwent an open heart operation without serious complications as a result of careful and appropriate perioperative management.

[Growth of the hypoplastic aortic arch after arch repair for coarctation and interruption of the aorta].

Surgical treatment for a hypoplastic aortic arch associated with coarctation or interruption of the aorta is controversial. We evaluate the changes of diameter of proximal transverse aortic arch after surgery in 28 patients. Proximal transverse aortic arch in all patients was preoperatively 3.5 +/- 0.9 mm (2.5 to 7 mm), and 54 +/- 12% (36 to 84%) to the normal aortic valve dimension (n-AVD: 16.6 X BSA0.6). While postoperative proximal transverse aortic arch was 6.5 +/- 1.8 mm, and 76 +/- 12% to the n-AVD, and significantly grew more than the preoperative arch dimension (p = 0.0001). In 18 patients having two times cardiac catheterization postoperatively, proximal transverse aortic arch was 6.5 +/- 1.6 mm, and 75 +/- 13% to n-AVD on the 1st postoperative examination. On the 2nd examination, the arch was 9.9 +/- 1.9 mm, and 88 +/- 12% to n-AVD, and significantly grew with increasing years (p < or = 0.0003). We concluded that the proximal transverse aortic arch, which was more than 36% to n-AVD in diameter, if not dilated surgically, grew with increasing years after aortic arch repair.

Massive intestinal albumin loss after Fontan operation.

Massive intestinal protein loss was demonstrated and the site of loss determined by abdominal scintigraphy with 99mTc-labeled human serum albumin in a 9-year-old girl following the Fontan operation for pulmonary atresia with intact ventricular septum. Significant activity accumulating in the lower small intestine and moving with its contents into the colon were shown. Her condition may have resulted from intestinal lymphangiectasia, caused by increased central venous pressure. Abdominal scintigraphy with 99mTc-human serum albumin is useful in the diagnosis of protein-losing enteropathy.

Angiographic assessment of left ventricular volume, afterload and contractile state in normal children.

Left ventricular (LV) volume, mass and end-systolic stress were determined angiographically in 20 normal children aged 3 months to 16 years. LV contractile state was assessed by the analysis of the relation between end-systolic stress and ejection phase index or end-systolic volume. The LV volume and mass closely correlated with the body surface area. The LV mass/end-diastolic volume ratio (0.94 +/- 0.13 g/ml), ejection fraction (0.67 +/- 0.03) and circumferential end-systolic stress (163 +/- 21 kdynes/cm2, 165 +/- 21 g/cm2) remained constant despite the extensive increase in LV volume with physical growth. In all subjects significant inverse correlations were observed between end-systolic stress and ejection fraction or mean normalized systolic ejection rate. The ratio of the circumferential end-systolic stress to end-systolic volume index ranged from 5.00 to 12.57 (7.49 +/- 1.88). The ratio inversely correlated with age (r = -0.74, p less than 0.001), indicating that this ratio for estimating LV contractility is associated with ventricular size. These results suggested that the LV mass increased adequately in response to the extensive increase in LV cavity volume to maintain the end-systolic stress during growth in childhood and that physiologic cardiac growth was associated with appropriate hypertrophy with no significant change in LV contractile state.

[A case of successful modified Fontan operation in pulmonary atresia and intact ventricular septum].

A 5 year-old girl with pulmonary atresia with intact ventricular septum underwent a modified Fontan operation successfully. In spite of the previous Brock and shunt procedures, the right ventricle remained hypoplastic as end diastolic volume of 50% of normal with hypoplastic tricuspid valve. A modified Fontan operation was performed as a definitive operation with main reason of hypoplastic tricuspid valve. The selection of the definitive procedures was discussed.