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ORIGINAL RESEARCH |
From the Divisions of Maternal Fetal Medicine and Gynecology, Department of Obstetrics and Gynecology, and the Section of Thoracic Surgery, Department of Surgery, University of Michigan School of Medicine, Ann Arbor, Michigan.
Address reprint requests to: Cosmas J. M. van de Ven, MD, Department of Obstetrics and Gynecology, University of Michigan, Mott Hospital F4835, 1500 East Medical Center Drive, Ann Arbor, MI 48109-0264, E-mail: cosmas{at}umich.edu
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Abstract |
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Methods: The Pediatric Cardiovascular Surgery database at the University of Michigan was searched from 1990 to 1997, and obstetric and neonatal records of neonates with hypoplastic left heart syndrome and Turner syndrome were reviewed.
Results: There were 406 cases of hypoplastic left heart syndrome admitted during 8 years, of which ten (2.5%) also had Turner syndrome. Nine infants were delivered at term and one at 36 weeks. The mean (± standard deviation [SD]) gestational age at delivery was 38 ± 1.2 weeks, and mean (±SD) birth weight was 2991 ± 438 g. Delivery was vaginal in all cases, and no infant had an Apgar score at 5 minutes less than 7. Karyotype was 45, X in seven cases, and 45, X mosaic in three. Most infants had dysmorphic features at birth. All ten infants had first-stage reconstruction surgery for hypoplastic left heart syndrome. Only two survived and underwent second-stage palliation; both are alive currently, although with significant medical problems.
Conclusion: For infants with hypoplastic left heart and Turner syndromes, regular obstetric management appears appropriate. Although staged reconstruction surgery has improved survival for neonates with isolated hypoplastic left heart syndrome, for those with Turner syndrome, survival appears markedly reduced.
Hypoplastic left heart syndrome is a spectrum of congenital cardiac anomalies characterized by hypoplasia of the ascending aorta, aortic valve hypoplasia or atresia, mitral valve hypoplasia or atresia, and hypoplasia or absence of the left ventricle.1 It is the most common cause of death from congenital heart disease during the first year of life in the United States.2 Successful reconstructive surgery3 and cardiac transplantation4 were introduced to treat hypoplastic left heart syndrome. At our institution, the 5-year actuarial survival after staged reconstruction surgery (± standard error of the mean [SEM]) is 69 ± 8% among infants with isolated hypo-plastic left heart syndrome and 58 ± 9% among infants with hypoplastic left heart syndrome and additional cardiac or extracardiac anomalies.5 Left-sided congenital cardiac anomalies are present in 20–40% of infants with Turner syndrome,6 including hypoplastic left heart syndrome.7,8 This might suggest a noncoincidental association of those two conditions, indicating an extreme form of left-sided cardiac anomaly seen with Turner syndrome. Given the frequent antenatal diagnosis of hypoplastic left heart syndrome and Turner syndrome, evaluation of the obstetric and neonatal outcomes of infants with these syndromes is important for prenatal counseling and surgical candidacy. The purpose of this study was to report the obstetric and neonatal outcomes of infants with hypo-plastic left heart and Turner syndromes.
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Material and Methods |
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Diagnoses of hypoplastic left heart syndrome were made in the antenatal period by obstetric ultrasonography, and all were confirmed by fetal echocardiography. Diagnoses of Turner syndrome were made by cytogenetic analyses of peripheral blood cells in the neonatal period, or by amniocentesis in the antenatal period. Phenotypic findings were reviewed. Obstetric characteristics reviewed included gestational age at diagnosis and delivery, mode of delivery, birth weight, and intrapartum fetal heart rate tracings when available. Surgical interventions for hypoplastic left heart syndrome were recorded, including age at surgery, complications, neonatal length of stay, and survival. Coexisting cardiac anatomic variants were recorded. Age at death and necropsy findings were reviewed. Descriptive data are presented as mean ± standard deviation (SD) and percentages.
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Results |
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The average (range) maternal age was 26 (17–36) years. The mean (±SD) gestational age at delivery was 38 ± 1.2 weeks. Women delivered vaginally and at term, except for one who was induced at 36 weeks because of a poor biophysical profile. Labor was spontaneous in half the cases and induced electively in the other half. Records of intrapartum fetal heart rate (FHR) tracings of five infants born at our institution and available for reviewing were reassuring. One fetus had variable decelerations during labor.
The mean (±SD) birth weight was 2991 ± 438 g, with a range of 2590–4075 g. No infant had an Apgar score at 5 minutes less than 7. Two infants had umbilical arterial blood pH values available for reporting, 7.13 and 7.20, with reassuring FHR tracings intrapartum. Both were induced at term, and one was a forceps delivery (arterial cord pH of 7.13).
Diagnoses of hypoplastic left heart syndrome were made by obstetric ultrasonography followed by fetal echocardiography in the antenatal period in seven cases, with a mean (±SD) gestational age at diagnosis of 23 ± 1.7 weeks. Abnormal four-chamber view on routine obstetric ultrasound indicated referral for fetal echocardiography in all seven cases. The other three cases were diagnosed in the neonatal period as a result of respiratory and circulatory problems.
Diagnoses of Turner syndrome were made by amniocentesis in six infants, and the other four were diagnosed neonatally by cytogenetic analysis from peripheral blood cells. Seven infants had 45, X karyotypes, and three had 45, X mosaics whom were diagnosed postnatally. Eight infants were dysmorphic at birth and had phenotype characteristics of Turner syndrome.
All infants had first-stage reconstructive surgery with the Norwood procedure, during which the pulmonary valve is anastomosed to the augmented aorta to provide unobstructed systemic blood flow from the right ventricle to the systemic circulation and coronary arteries. The atrial septum is excised to relieve any obstruction to pulmonary venous return, and pulmonary blood flow is limited by a systemic-to-pulmonary artery shunt. The mean (±SD) age at surgery was 6 ± 3.8 days with a range of 2–14 days. Eight infants died after the Nor-wood procedure. The mean (±SD) age at death was 39 ± 47.8 days. Five of those infants died during early recovery from surgery, and three died after discharge from the hospital. Postoperative complications included cardiac arrest, hypotension, right ventricular dysfunction, decreased renal function, and severe metabolic acidosis. Necropsy reports, available in four cases, confirmed cardiac anatomy and Turner phenotype.
The two survivors, both 45, X mosaic, had second-stage reconstructive surgery, the hemi-Fontan procedure, during which the volume load on the right ventricle imposed by the systemic-to-pulmonary artery shunt is removed, and the superior vena cava is anastomosed to the undivided pulmonary arteries. Those two infants are alive currently at ages 1 and 3 years. Repeated hospitalizations have been required for ongoing medical problems, including congestive heart failure, gastroesophageal reflux, chronic otitis, and failure to thrive. Mean (±SD) hospital length of stay after first-stage palliation was 33 ± 37.6 days.
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Discussion |
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In the majority of studies, hypoplastic left heart syndrome was a model of multi-factorial inheritance.10,11 It was associated with many genetic disorders (autosomal recessive and dominant) and chromosomal aneuploidies, including trisomy 18, trisomy 13, and trisomy 21.7 Turner syndrome was associated with hypoplastic left heart syndrome in several case reports.7,8 van Egmond et al8 reported an 8% prevalence of Turner syndrome among 39 cases with hypoplastic left heart syndrome. In our series, with a much larger number of patients, the prevalence of this association was only 2.5%. This might be due to spontaneous losses not accounted for in this study, because a 19% prevalence of Turner syndrome was reported in an autopsy series of 1498 aborted fetuses with hypoplastic left heart syndrome.12 The association of left-sided congenital cardiac anomalies, including hypoplastic left heart syndrome, with Turner syndrome might contribute to intrauterine mortality in infants with Turner syndrome.
It is important to address the potential for selection bias in our series due to the highly selective referral pattern. It is likely that infants with hypoplastic left heart and Turner syndromes were transferred to our institution only if their antepartum and intrapartum courses were favorable. Therefore, the number of infants with antenatal problems might have been higher, even though not represented in this database. Potential referring pediatric cardiologists might counsel parents against intervention of any kind when their infants have hypoplastic left heart syndrome and Turner syndrome, which might have influenced which infants were seen by the surgical service.
When pregnancy continues to term, the obstetric and immediate neonatal courses of infants with hypoplastic left heart and Turner syndromes are generally uncomplicated. In this case series, the mean gestational age at delivery was 38 weeks, the mode of delivery was vaginal, Apgar scores at 5 minutes were greater than 7, and the infants had an average weight of 2991 g. This is consistent with our previously reported data on 219 fetuses with hypoplastic left heart syndrome,13 confirming that the intrapartum period is not a high-risk situation for infants with hypoplastic left heart syndrome, including those with 45, X karyotype.
Treatment options for newborns with hypoplastic left heart syndrome include staged reconstruction procedures, cardiac transplantation, or passive euthanasia. All infants in our series had first-stage palliation with the Norwood procedure in the neonatal period. The overall 1-month survival rate was 50%, which is similar to the 1-month survival rate of 61 ± 14% for a similar group of high-risk infants with hypoplastic left heart syndrome and other major anomalies reported by Bove and Lloyd.5 Compared with the 1-month hospital survival rate of 85 ± 4% among infants with isolated hypoplastic left heart syndrome who had the Norwood operation, this high-risk group of infants has poor prognoses. Although the reasons for this apparent difference are not explained easily, infants with Turner syndrome are known to have severe edema caused by lymphatic abnormalities that might affect all organ systems after any operation. That contributes undoubtedly to poor postoperative courses seen often after the Norwood procedure, and subsequent reconstructive operations (hemi-Fontan and Fontan) when increased venous pressures are expected. The most serious postoperative problems result from pulmonary edema caused by impaired lymphatic drainage from pulmonary lymphangiectasis, which results in significant morbidity and mortality. The three infants with 45, X mosaic karyotypes were diagnosed postnatally, and two are still alive. That suggests that infants with mosaic karyotypes have different clinical courses. However, the small number of patients with Turner syndrome in our series does not permit valid statistical evaluation and renders that conclusion speculative.
Whether cardiac transplantation would improve survival for these infants has not been studied. The small number of cardiac donors and frequently unstable condition of many of those infants limit that procedure. We would expect current efforts to reduce mortality after the Norwood procedure to continually improve late survival, which might be extended to infants at high risk also.
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Footnotes |
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Received June 12, 1998. Received in revised form September 9, 1998. Accepted September 24, 1998.
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References |
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2. Gillum RF. Epidemiology of congenital heart disease in the United States. Am Heart J 1994;127:919–27.[Medline]
3. Norwood WI Jr. Hypoplastic left heart syndrome. Ann Thorac Surg 1991;52:688–95.[Abstract]
4. Bailey LL, Nehelsen-Cannarella SL, Doroshow RW, Jacobson JG, Martin RD, Allard MW, et al. Cardiac allotransplantation in newborns as therapy for hypoplastic left heart syndrome. N Engl J Med 1986;315:949–51.[Medline]
5. Bove EL, Lloyd TR. Staged reconstruction for hypoplastic left heart syndrome. Ann Surg 1996;224:387–95.[Medline]
6. Nora JJ, Torres FG, Sinha AK, McNamara DG. Characteristic cardiovascular anomalies of XO Turner syndrome, XX and XY phenotype and XO/XX Turner mosaic. Am J Cardiol 1970;25:639–41.[Medline]
7. Natowicz M, Chatten J, Clancy R, Conard K, Glauser T, Huff D, et al. Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome. Pediatrics 1988;82:698–706.
8. van Egmond H, Orye E, Praet M, Coppens M, Devloo-Blancquaert A. Hypoplastic left heart syndrome and 45X karyotype. Br Heart J 1988;60:69–71.
9. Gutgesell HP, Massaro TA. Management of hypoplastic left heart syndrome in a consortium of university hospitals. Am J Cardiol 1995;76:809–11.[Medline]
10. Brownell LC, Shokeir MH. Inheritance of hypoplastic left heart syndrome (HLHS): Further observations. Clin Genet 1976;9:245–9.[Medline]
11. Holmes LB, Rose V, Child AH, Kratzer W. Hypoplastic left heart. Evidence for possible autosomal recessive inheritance. Comment. Birth Defects Orig Artic Ser 1974;10:228–30.[Medline]
12. Boué J, Bou A, Lazar P. Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratology 1975;12:11–26.[Medline]
13. Reis PM, Punch MR, Bove EL, van de Ven CJM. Obstetric management of 219 infants with hypoplastic left heart syndrome. Am J Obstet Gynecol (in press).
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