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Geneticist, Pediatrician, Cardiologist (heart), Pediatric Specialist
28 years of experience
Video profile
Accepting new patients

Education ?

Medical School Score Rankings
Northwestern University (1982)
  • Currently 3 of 4 apples
Top 50%

Awards & Distinctions ?

Appointments
Harvard Medical School
Assistant Professor
Wmdhs
Associations
American Board of Medical Genetics
American Board of Pediatrics

Affiliations ?

Dr. Lacro is affiliated with 10 hospitals.

Hospital Affilations

Score

Rankings

  • Steward Good Samaritan Med Ctr
    Cardiology
    235 N Pearl St, Brockton, MA 02301
    • Currently 4 of 4 crosses
    Top 25%
  • Beverly Hospital
    Cardiology
    85 Herrick St, Beverly, MA 01915
    • Currently 4 of 4 crosses
    Top 25%
  • Winchester Hospital
    Cardiology
    41 Highland Ave, Winchester, MA 01890
    • Currently 3 of 4 crosses
    Top 50%
  • Metrowest Medical Center
    Cardiology
    115 Lincoln St, Framingham, MA 01702
    • Currently 3 of 4 crosses
    Top 50%
  • Children's Hospital
    300 Longwood Ave, Boston, MA 02115
    • Currently 2 of 4 crosses
  • Brigham and Women's Hospital
    Cardiology
    75 Francis St, Boston, MA 02115
    • Currently 2 of 4 crosses
  • Columbia Metrowest Hc Systems
  • Children`s Hospital Medical Center
  • Children`s Hospital Boston
  • Tenet Metrowest Healthcare Sys
  • Publications & Research

    Dr. Lacro has contributed to 27 publications.
    Title Surgical Interventions for Atrioventricular Septal Defect Subtypes: the Pediatric Heart Network Experience.
    Date November 2011
    Journal The Annals of Thoracic Surgery
    Excerpt

    The influence of atrioventricular septal defect (AVSD) subtype on outcomes after repair is poorly understood.

    Title Lessons Learned from a Pediatric Clinical Trial: the Pediatric Heart Network Angiotensin-converting Enzyme Inhibition in Mitral Regurgitation Study.
    Date March 2011
    Journal American Heart Journal
    Excerpt

    BACKGROUND: Mitral regurgitation is the most common indication for reoperation in children following repair of atrioventricular septal defect (AVSD). We hypothesized that angiotensin-converting enzyme inhibitor therapy would decrease the severity of mitral regurgitation and limit left ventricular volume overload in children following AVSD repair. METHODS: The Pediatric Heart Network designed a placebo-controlled randomized trial of enalapril in this population. The primary aim was to test the effect of enalapril on the change in left ventricular end-diastolic dimension body surface area-adjusted z score. Before the launch of the trial, a feasibility study was performed to estimate the number of patients with at least moderate mitral regurgitation following AVSD repair. TRIAL EXPERIENCE: Seventeen months after the start of the study, 349 patients were screened, 8 were trial eligible, and only 5 were enrolled. The study was subsequently terminated because of low patient accrual. Several factors led to the problems with patient accrual, including (1) the use of criteria to assess disease severity in the feasibility study that were not identical to those used in the trial, (2) failure to achieve equipoise for the study among clinicians and referring physicians, (3) reliance on methodology developed in adult populations with different disease mechanisms, and (4) absence of adequate data to define the natural history of the disease process under study. Progress in the treatment of children with cardiovascular disease will depend on the future of multicenter collaborative clinical trials. The lessons learned from this study may contribute to improvements in this research.

    Title Partial and Transitional Atrioventricular Septal Defect Outcomes.
    Date February 2010
    Journal The Annals of Thoracic Surgery
    Excerpt

    Surgical and perioperative improvements permit earlier repair of partial and transitional atrioventricular septal defects (AVSD). We sought to describe contemporary outcomes in a multicenter cohort.

    Title Pulmonary Artery Hypertension in Formerly Premature Infants with Bronchopulmonary Dysplasia: Clinical Features and Outcomes in the Surfactant Era.
    Date January 2008
    Journal Pediatrics
    Excerpt

    BACKGROUND: Although abnormal pulmonary vascular structure and function in preterm infants with bronchopulmonary dysplasia may predispose infants to pulmonary artery hypertension, little is known about the characteristics and outcomes of bronchopulmonary dysplasia-associated pulmonary artery hypertension in the surfactant era. METHODS: We studied 42 premature infants (< 32 weeks of gestation) with bronchopulmonary dysplasia who were diagnosed as having pulmonary artery hypertension > or = 2 months after birth, between 1998 and 2006, at a median age of 4.8 months. Pulmonary artery hypertension was graded through echocardiography for all patients; 13 patients also underwent cardiac catheterization. RESULTS: Eighteen (43%) of 42 patients had severe pulmonary artery hypertension (systemic or suprasystemic right ventricular pressure). Among 13 patients who underwent catheterization, the mean pulmonary artery pressure was 43 +/- 8 mmHg and the pulmonary vascular resistance index was 9.9 +/- 2.8 Wood units. In 12 patients, pulmonary artery pressure and pulmonary vascular resistance improved with 100% oxygen and 80 ppm inhaled nitric oxide but remained elevated. The pulmonary vascular resistance index decreased to 7.9 +/- 3.8 Wood units in 100% oxygen and to 6.4 +/- 3.1 Wood units with the addition of nitric oxide. Sixteen patients (38%) died during the follow-up period. Estimated survival rates were 64% +/- 8% at 6 months and 53% +/- 11% at 2 years after diagnosis of pulmonary artery hypertension. In multivariate analyses, severe pulmonary artery hypertension and small birth weight for gestational age were associated with worse survival rates. Among 26 survivors (median follow-up period: 9.8 months), pulmonary artery hypertension was improved, relative to its most severe level, in 24 patients (89%). CONCLUSION: Premature infants with bronchopulmonary dysplasia and severe pulmonary artery hypertension are at high risk of death, particularly during the first 6 months after diagnosis of pulmonary artery hypertension.

    Title Rationale and Design of a Randomized Clinical Trial of Beta-blocker Therapy (atenolol) Versus Angiotensin Ii Receptor Blocker Therapy (losartan) in Individuals with Marfan Syndrome.
    Date November 2007
    Journal American Heart Journal
    Excerpt

    BACKGROUND: Cardiovascular disease, including aortic root dilation, dissection, and rupture, is the leading cause of mortality in patients with Marfan syndrome (MFS). The maximal aortic root diameter at the sinuses of Valsalva is considered the best predictor of adverse cardiovascular outcome. Although advances in therapy have improved life expectancy, affected individuals continue to suffer cardiovascular morbidity and mortality. Recent studies in an FBN1-targeted mouse model of MFS with aortic disease similar to that seen in humans showed that treatment with losartan normalized aortic root growth and aortic wall architecture. METHODS: The Pediatric Heart Network designed a randomized clinical trial to compare aortic root growth and other short-term cardiovascular outcomes in subjects with MFS receiving atenolol or losartan. Individuals 6 months to 25 years of age with a body surface area-adjusted aortic root z score >3.0 will be eligible for inclusion. The primary aim is to compare the effect of atenolol therapy with that of losartan therapy on the rate of aortic root growth over 3 years. Secondary end points include progression of aortic regurgitation; incidence of aortic dissection, aortic root surgery, and death; progression of mitral regurgitation; left ventricular size and function; echocardiographically derived measures of central aortic stiffness; skeletal and somatic growth; and incidence of adverse drug reactions. CONCLUSION: This randomized trial should make a substantial contribution to the management of individuals with MFS and expand our understanding of the mechanisms responsible for the aortic manifestations of this disorder.

    Title Improved Outcome with Composite Graft Versus Homograft Root Replacement for Children with Aortic Root Aneurysms.
    Date April 2005
    Journal European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery
    Excerpt

    OBJECTIVE: Review of surgical repair of aortic root aneurysms using composite graft or homograft in children. METHODS: A consecutive series of 34 children (mean age 10.8+/-5.4 years) who underwent elective aortic root replacement using composite graft or homograft from 1987 to 2003 (mean follow-up 5.7+/-3.7 years). RESULTS: Preoperatively, the aortic annulus and aortic root average z-scores were 4.1+/-2.2 and 9.4+/-4.7, respectively. Composite graft root replacement was performed in 22 patients, and cryopreserved aortic homograft root replacement in 12 patients. There was one perioperative death in the homograft group due to sudden cardiovascular collapse. There was one late death in the composite graft group due to acute aortic dissection, and two late deaths in the homograft root replacement group, one at 7 months postoperatively due to coronary artery thrombosis and one due to severe chronic myocardial dysfunction 5 years postoperatively. One patient who initially had a homograft died due to mechanical valve thrombosis following reoperative composite graft replacement. Five patients had reoperations at a median of 7.1 years after initial surgery. One patient in the composite graft group underwent arch replacement. There were no graft related reoperations after composite graft root replacement, but 4 patients in the homograft group had reoperative composite graft replacement. Predictors of reoperation included age at surgery, lower weight, and longer ICU time (P<0.05). CONCLUSIONS: In children with aortic root aneurysms, reoperation is more common after homograft root replacement than composite graft replacement. Composite graft root replacement provides more stable repair of the aortic root.

    Title Fetal Pulmonary Artery Diameters and Their Association with Lung Hypoplasia and Postnatal Outcome in Congenital Diaphragmatic Hernia.
    Date June 2002
    Journal American Journal of Obstetrics and Gynecology
    Excerpt

    OBJECTIVE: We hypothesized that fetal branch pulmonary artery (PA) diameters indirectly reflect lung mass and are associated with postnatal outcome in cases of isolated congenital diaphragmatic hernia (CDH). STUDY DESIGN: We retrospectively reviewed echocardiograms of fetuses with CDH, measuring branch PA diameters and other echocardiographic parameters. Antenatal parameters were correlated with postmortem lung weights in 5 fetuses after pregnancy termination. Fetal echocardiographic measures were correlated with outcome variables in 29 live-born infants with CDH to identify antenatal indices associated with postnatal death and respiratory morbidity. RESULTS: Antenatal branch PA size correlated with postmortem lung weights from 5 terminated fetuses (r = 0.87). In 26 cases of left CDH in which the fetus continued to term, the ipsilateral branch PA diameter was significantly smaller than the contralateral branch PA diameter at presentation (P <.001). In these fetuses, a larger contralateral PA diameter was associated with worse postnatal survival (P =.049). Among survivors with left CDH, the main PA z score and the discrepancy between right and left PA diameters correlated positively with duration of supplemental oxygen requirement (P =.019 and P =.022, respectively) and ventilation (P =.036 and P =.012, respectively). Serial antenatal studies in 8 of 10 cases revealed progressive ipsilateral PA hypoplasia. CONCLUSION: Antenatal branch PA size correlates with postmortem lung weight. A larger contralateral PA, and significant branch PA discrepancy and larger main PA diameter, best correlate with postnatal death and respiratory morbidity, respectively. Progressive ipsilateral PA hypoplasia suggests progressive in utero lung hypoplasia in cases of CDH.

    Title Heart Size on Chest X-ray As a Predictor of Cardiac Enlargement by Echocardiography in Children.
    Date July 2001
    Journal Pediatric Cardiology
    Excerpt

    To determine the usefulness of heart size on chest radiograph (CXR) in predicting cardiac enlargement (CE) in children, we prospectively evaluated 95 consecutive outpatients, who had both a CXR and echocardiography performed. Their median age was 5.0 years (2 days to 19.9 years). All patients underwent CXR assessment by a pediatric radiologist, with classification of cardiac silhouette as normal, borderline, or enlarged. Echocardiographic assessment of CE was performed by a pediatric echocardiographer. Sensitivity, specificity, and predictive values of the pediatric radiologist's interpretation of heart size on CXR were estimated. The presence of CE by echocardiography was used as the gold standard. Seventy-nine patients (83.2%) had no CE on CXR, and 16 patients (16.8%) had CE. Sensitivity of the CXR to identify CE was 58.8%, 95% confidence interval (CI) [32.9, 81.6], with a positive predictive value of 62.5% [35.4, 84.8]. Specificity was 92.3% [84.0, 97.1], with a negative predictive value of 91.1% [82.6, 96.4]. These data suggest that the assessment of CE on CXR to predict CE by echocardiography has a relatively high specificity and negative predictive value, but a low sensitivity and positive predictive value. The limitations of CXR as a diagnostic test should be understood by clinicians using the test when screening children for cardiac disease.

    Title Fetal Cardiac Dextroposition in the Absence of an Intrathoracic Mass: Sign of Significant Right Lung Hypoplasia.
    Date February 2001
    Journal Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine
    Excerpt

    We reviewed our experience of fetal cardiac dextroposition in the absence of an intrathoracic mass. Ten cases were found by fetal echocardiography to have a normal cardiac axis, but the heart was shifted into the right chest and the amount of right lung tissue was reduced. At birth seven of the infants had confirmed structural heart disease (70%), including three with scimitar syndrome. Two infants had additional extracardiac anomalies (20%). Seven infants born at term had clinical pulmonary hypertension with a diagnosis of right lung hypoplasia in all of them. Two neonates died owing to significant heart disease (one with scimitar syndrome and the other with hypoplastic left heart syndrome). Of the three pregnancies that were terminated, the two fetuses with autopsies had severe right lung hypoplasia. Fetal cardiac dextroposition and right pulmonary artery hypoplasia in the absence of an intrathoracic mass are important signs of right lung hypoplasia, which can be associated with significant pathologic cardiac and extracardiac conditions.

    Title Cardiovascular Malformations: Changes in Prevalence and Birth Status, 1972-1990.
    Date July 1999
    Journal American Journal of Medical Genetics
    Excerpt

    Through an ongoing hospital-based active malformation surveillance program, we identified cardiovascular malformations (CVMs) in 3.3 per 1,000 liveborn and stillborn infants, and fetuses from pregnancies terminated electively during a 15-year period. We excluded the children of mothers who had planned delivery elsewhere, but were transferred for care of anomalies that had been detected in prenatal screening. Birth status changed markedly during the study with a significant increase in elective terminations of fetuses with a CVM from 0 to 22% (P < 0.01 based on a test for trend). The proportion of liveborn infants with CVMs decreased from 90% to 73% (P < 0.01); the frequency of stillbirths did not change. During the study period, there was a significant increase in the prevalence of CVMs in all births (P < 0.01) and elective terminations (P < 0.01). The increase in liveborn prevalence was not statistically significant (P = 0.08). Stillborn prevalence was unchanged. The number of mothers having prenatal ultrasonography (P < 0.01 for trend) and amniocentesis (P < 0.01 for trend) increased steadily. There were significant increases in the proportion of mothers having any ultrasound examination (P < 0.01 for trend), the number of initial ultrasound examinations occurring in the second trimester (P < 0.01 for trend), and the proportion of mothers having amniocentesis (P < 0.01 for trend). There was a significant increasing trend in the proportion of mothers who were 35 years and older (10% in 1972-1974, 26% in 1988-1990, P < 0.01). This hospital-based active surveillance program suggests that more frequent elective terminations had a significant effect on overall birth prevalence of CVMs. This trend would not have been detected by most other surveillance systems which determine prevalence of common birth defects from birth certificates and other forms of administrative reporting, and exclude elective terminations of pregnancy.

    Title Adams-oliver Syndrome Associated with Cardiovascular Malformations.
    Date February 1999
    Journal Clinical Dysmorphology
    Excerpt

    We describe two families with Adams-Oliver syndrome (AOS), an autosomal dominant malformation syndrome (MIM No. 10030), in which cardiovascular malformations (CVMs) have been reported previously. In the first family, twin boys and their mother had the typical digital and scalp defects of AOS with various obstructive CVMs of the left heart (bicuspid aortic valve, Shone's complex). At least three other relatives not examined personally are reported to have related CVMs (aortic valve stenosis, hypoplastic left heart syndrome). In the second family, a girl had typical AOS digital and scalp defects and a bicuspid aortic valve. At least three other relatives are reported to be mildly affected. Tetralogy of Fallot had been previously reported as the most common CVM in AOS [Zapata HH, Sletten LJ, Pierport MEM (1995). J Med Genet 47:80-84.]. However, with the addition of these new patients and two other literature reports, we emphasize that approximately 20% have a CVM, frequently obstructive lesions of the left heart. Cardiology consultation should be offered to most patients with AOS.

    Title Sudden Death in Williams Syndrome: Report of Ten Cases.
    Date January 1997
    Journal The Journal of Pediatrics
    Excerpt

    Williams syndrome (WS) is a recognizable pattern of malformation with mental retardation, mild growth deficiency, characteristic facies and temperament, and cardiovascular disease. Sudden death is a recognized complication of WS; however, it is thought to be rare. The clinical features of 10 children with WS who died suddenly are reported here, doubling the number of unexpected deaths reported in the literature. We suggest that sudden death is a more common complication than has been assumed previously. Pathologic findings on the seven autopsy cases implicate two anatomic abnormalities that predispose individuals with WS to sudden death: coronary artery stenosis and severe biventricular outflow tract obstruction. The mechanisms for sudden death for both anatomic subgroups include myocardial ischemia, decreased cardiac output, and arrhythmia. We believe these observations warrant the development of strategies for monitoring patients with WS in an attempt to identify those at increased risk of sudden death.

    Title Clinical Approach to Genetic Cardiomyopathy in Children.
    Date December 1996
    Journal Circulation
    Excerpt

    BACKGROUND: Cardiomyopathy (CM) remains one of the leading cardiac causes of death in children, although in the majority of cases, the cause is unknown. To have an impact on morbidity and mortality, attention must shift to etiology-specific treatments. The diagnostic evaluation of children with CM of genetic origin is complicated by the large number of rare genetic causes, the broad range of clinical presentations, and the array of specialized diagnostic tests and biochemical assays. METHODS AND RESULTS: We present a multidisciplinary diagnostic approach to pediatric CM of genetic etiology. We specify criteria for abnormal left ventricular systolic performance and structure that suggest CM based on established normal echocardiographic measurements and list other indications to consider an evaluation for CM. We provide a differential diagnosis of genetic conditions associated with CM, classified as inborn errors of metabolism, malformation syndromes, neuromuscular diseases, and familial isolated CM disorders. A diagnostic strategy is offered that is based on the clinical presentation: biochemical abnormalities, encephalopathy, dysmorphic features or multiple malformations, neuromuscular disease, apparently isolated CM, and pathological specimen findings. Adjunctive treatment measures are recommended for severely ill patients in whom a metabolic cause of CM is suspected. A protocol is provided for the evaluation of moribund patients. CONCLUSIONS: In summary, we hope to assist pediatric cardiologists and other subspecialists in the evaluation of children with CM for a possible genetic cause using a presentation-based approach. This should increase the percentage of children with CM for whom a diagnosis can be established, with important implications for treatment, prognosis, and genetic counseling.

    Title Renal Findings in 40 Individuals with Williams Syndrome.
    Date June 1993
    Journal American Journal of Medical Genetics
    Excerpt

    We tabulated the frequency of renal abnormalities in 40 Williams syndrome individuals presenting for medical and/or developmental assessment to a multi-disciplinary Williams syndrome program. The average age at time of assessment was 7 2/12 years. Seven individuals (7/40 = 18%) had abnormalities detected, including nephrocalcinosis = 2; marked asymmetry in kidney size = 2; small kidneys = 1; solitary kidney = 1; and pelvic kidney = 1. Renal function was also assessed. Two individuals had evidence of renal dysfunction, one secondary to nephrocalcinosis and the second due to hypercalcemia and interstitial nephritis of unclear pathogenesis. We examined the frequency of renal artery stenosis in 9 individuals who underwent abdominal angiography during cardiac catheterization. We found unilateral or bilateral mild renal artery narrowing in 4 individuals and normal renal arteries in the remaining 5. Persistent hypertension occurred in only 2 individuals and did not correlate with renal artery status. We conclude that intrinsic renal anomalies, as well as problems secondary to hypercalcemia, occur with sufficient frequency to warrant baseline renal screening in all individuals with Williams syndrome.

    Title Expression of Dihydropyridine Receptor (ca2+ Channel) and Calsequestrin Genes in the Myocardium of Patients with End-stage Heart Failure.
    Date October 1992
    Journal The Journal of Clinical Investigation
    Excerpt

    Cytoplasmic free calcium ions (Ca2+) play a central role in excitation-contraction coupling of cardiac muscle. Abnormal Ca2+ handling has been implicated in systolic and diastolic dysfunction in patients with end-stage heart failure. The current study tests the hypothesis that expression of genes encoding proteins regulating myocardial Ca2+ homeostasis is altered in human heart failure. We analyzed RNA isolated from the left ventricular (LV) myocardium of 30 cardiac transplant recipients with end-stage heart failure (HF) and five organ donors (normal control), using cDNA probes specific for the cardiac dihydropyridine (DHP) receptor (the alpha 1 subunit of the DHP-sensitive Ca2+ channel) and cardiac calsequestrin of sarcoplasmic reticulum (SR). In addition, abundance of DHP binding sites was assessed by ligand binding techniques (n = 6 each for the patients and normal controls). There was no difference in the level of cardiac calsequestrin mRNA between the HF patients and normal controls. In contrast, the level of mRNA encoding the DHP receptor was decreased by 47% (P less than 0.001) in the LV myocardium from the patients with HF compared to the normal controls. The number of DHP binding sites was decreased by 35-48%. As reported previously, expression of the SR Ca(2+)-ATPase mRNA was also diminished by 50% (P less than 0.001) in the HF group. These data suggest that expression of the genes encoding the cardiac DHP receptor and SR Ca(2+)-ATPase is reduced in the LV myocardium from patients with HF. Altered expression of these genes may be related to abnormal Ca2+ handling in the failing myocardium, contributing to LV systolic and diastolic dysfunction in patients with end-stage heart failure.

    Title Pattern of Malformations in the Children of Women Treated with Carbamazepine During Pregnancy.
    Date July 1989
    Journal The New England Journal of Medicine
    Excerpt

    In an attempt to determine whether and to what extent carbamazepine is teratogenic, we evaluated eight children whom we identified retrospectively as having had prenatal exposure to carbamazepine alone or in combination with a variety of anticonvulsants other than phenytoin. In addition, in a prospective study, we documented the outcome of the pregnancies of 72 women who contacted us early in pregnancy because they were concerned about the potential teratogenicity of carbamazepine. A pattern of malformation, the principal features of which are minor craniofacial defects and fingernail hypoplasia, and of developmental delay was identified in the eight children retrospectively ascertained to have been exposed to carbamazepine in utero; this pattern was subsequently confirmed through the evaluation of 48 children born alive to the women in the prospective study. That carbamazepine itself is teratogenic is indicated by the incidence of craniofacial defects (11 percent), fingernail hypoplasia (26 percent), and developmental delay (20 percent) in the 35 live-born children of the women in the prospective study who were exposed prenatally to carbamazepine alone. The similarity between the children exposed prenatally to carbamazepine and those with the fetal hydantoin syndrome is probably related to the fact that both drugs are metabolized through the arene oxide pathway and raises the possibility that it is the epoxide intermediate rather than the specific drug itself that is the teratogenic agent.

    Title Coarctation of the Aorta in Turner Syndrome: a Pathologic Study of Fetuses with Nuchal Cystic Hygromas, Hydrops Fetalis, and Female Genitalia.
    Date March 1988
    Journal Pediatrics
    Excerpt

    Congenital heart disease is a frequent feature of Turner syndrome. Although the most frequent cardiac lesion is coarctation of the aorta, a spectrum of cardiac defects occurs which is limited almost exclusively to defects associated with decreased blood flow through the left heart. We report the results of gross anatomic and microscopic dissection of 12 fetuses aborted between 16 and 26 weeks' gestation, with the classic Turner phenotype of nuchal cystic hygromas, hydrops fetalis, and female genitalia. Eight fetuses showed a consistent constellation of cardiac defects: diminution of the ascending aorta, large pulmonary artery ranging from 1 1/2 to three times the size of the aorta, large patent ductus arteriosus, and juxtaductal coarctation. Another fetus had hypoplastic left heart and aortic atresia. The remaining three fetuses had normal cardiac anatomy. The lymphatic vessels at the base of the great vessels were carefully examined in nine of the fetuses. Although there was no definite correlation between the degree of cardiac pathology and the extent of lymphatic aberrations at the base of the heart at the time of postmortem examination, the high incidence (75%) of left-sided flow defects among these fetuses, all of whom had large hygromas and severe edema, supports the hypothesis that there is a pathogenetic relationship between lymphatic obstruction and congenital heart disease in the 45,X Turner fetus.

    Title [brachmann-de Lange Syndrome: Report of 4 Cases in Mexican Children]
    Date March 1988
    Journal Boletín Médico Del Hospital Infantil De México
    Title New Autosomal Dominant Branchio-oculo-facial Syndrome.
    Date January 1988
    Journal American Journal of Medical Genetics
    Excerpt

    We observed an autosomal dominant disorder of abnormal upper lip, which resembles a poorly repaired cleft lip, malformed nose with broad bridge and flattened tip, lacrimal duct obstruction, malformed ears, and branchial cleft sinuses and/or linear skin lesions behind the ears in several persons in 3 families. In each of the 3 families, an affected parent had at least one affected child. Father-to-son transmission in one of these families ruled out X-linked inheritance. Other anomalies include coloboma, microphthalmia, auricular pits, lip pits, highly arched plate, dental anomalies, and subcutaneous cysts of the scalp. Premature graying of hair occurred in the affected adults. Growth retardation, developmental delay, and hand anomalies are variable components of the syndrome.

    Title The Gorlin Syndrome: a Genetically Determined Disorder Associated with Cardiac Tumor.
    Date January 1988
    Journal The Journal of Thoracic and Cardiovascular Surgery
    Title X-linked Laterality Sequence: Situs Inversus, Complex Cardiac Defects, Splenic Defects.
    Date December 1987
    Journal American Journal of Medical Genetics
    Excerpt

    The association of abdominal situs inversus, complex cardiac defects, and alterations in development of the spleen represents a developmental field complex with variable expression of altered laterality. Familial and inherited cases documenting respectively autosomal recessive and dominant inheritance have been reported. We report on the first family in which X-linked recessive inheritance of this defect has been documented.

    Title The Umbilical Cord Twist: Origin, Direction, and Relevance.
    Date November 1987
    Journal American Journal of Obstetrics and Gynecology
    Excerpt

    The purpose of this study was to evaluate the origin, direction, and relevance of the umbilical cord twist. We initially hypothesized that the direction of the helix or twist of the human umbilical cord at birth correlated with the eventual handedness of the child. Among 2801 singleton placentas in this study, only 5% had no twist, and the left twist outnumbered the right twist by 7 to 1, a ratio that is strikingly similar to the predominance of right-handed persons to non-right-handed persons in the general population. Forty-five 3- and 4-year-old children with previously documented cord twists were evaluated with respect to hand preference and performance. The direction of the cord twist was independent of the handedness of the child as well as the mother. We have documented an increased incidence of absent twist and right twist in association with single umbilical artery, suggesting that the impetus for the cord twist is independent on hemodynamic forces in the umbilical cord itself. We further document an increased incidence of absent twist among intrauterine fetal deaths and twins, suggesting that decreased fetal movement can impede the forces leading to normal twisting of the umbilical cord. Absence of cord twist may be associated with adverse prognosis.

    Title Duplication of Distal 15q: Report of Five New Cases from Two Different Translocation Kindreds.
    Date May 1987
    Journal American Journal of Medical Genetics
    Excerpt

    Four children and one spontaneously aborted fetus from 2 separate families have a similar pattern of malformation secondary to duplication of distal 15q. In both families, the abnormal chromosomes were derived from balanced reciprocal translocations carried by the mothers. Clinical features common to the 4 liveborn children include appropriate birth weight, length, and head circumference for gestational age; similar craniofacial anomalies, including sloping forehead, bulbous nose, prominent nasal bridge and septum, midline crease in the lower lip, and micrognathia; arachnodactyly; joint contractures involving hands and feet; cardiac defects; and genital anomalies. The 2 infants with duplication 15q22.1----qter and deletion 13q32.3----qter died in the immediate neonatal period. The abortus, who shared the same chromosome constitution, had an omphalocele and a cephalic defect in neural tube closure. The 2 children with duplication 15q22----qter and deletion 11q25----qter survived but have severe psychomotor retardation and postnatal onset growth deficiency, at 48 and 30 months, respectively. The findings in these 5 cases plus review of the literature permit further delineation of a recognizable pattern of malformation secondary to duplication of distal 15q.

    Title Hemorrhagic Infarction and Coronary Reperfusion.
    Date May 1981
    Journal The Journal of Thoracic and Cardiovascular Surgery
    Excerpt

    Coronary ligation experiments were performed on 23 primates. Some of the experiments were followed by reperfusion after periods of occlusion of from 1 to 6 hours. Hemorrhage into the infarct was noted in all animals and was greatest following reperfusion after 4 hours of occlusion or longer. Hemorrhage increases the measured infarct size to the point that it is actually larger than that seen with ligation alone. However, this increase is accounted for by the larger amount of intramyocardial hemorrhage. Hemorrhage is greatest in the center of the infarct and decreases at the margins. It appears that hemorrhage occurs into necrotic muscle and does not occur significantly at the margins of the infarct where damage to otherwise viable myocardium might result.

    Title Ascending Aortic Dilation in Patients with Congenital Complete Heart Block.
    Date
    Journal Heart Rhythm : the Official Journal of the Heart Rhythm Society
    Excerpt

    BACKGROUND: The clinical spectrum and underlying pathophysiology of isolated congenital complete heart block (CCHB) remain incompletely understood. Aortic dilation has been anecdotally observed in some children with CCHB, but detailed reports are lacking. OBJECTIVE: This study sought to systematically describe aortic size in children with CCHB and to investigate predictor variables associated with aortic dilation. METHODS: A retrospective review of clinical features and echocardiograms was performed for all patients with CCHB and a structurally normal heart or simple anatomic lesions seen at our center over 22 years. Echocardiographic measurements were assigned z-scores using validated norms. RESULTS: Sixty subjects met inclusion criteria. The median ascending aorta (AsAo) z-score was 2.2 (range -0.6 to 7.2) at first echocardiogram, with 30 of 58 (52%) having a z-score >2 (P <.0001) and 11 of 58 (19%) having a z-score >4. The distribution of aortic root dimensions was nearly normal with a median z-score of 0.4 (range -1.3 to 3.2). Although the AsAo remained dilated at the last echocardiogram (median z = 1.7, range -0.9 to 6.3), the trend toward normalization was significant (P = .002). Maternal autoantibody seropositivity and decreased left ventricular function were associated with AsAo dilation at initial echocardiogram in a multiple logistic regression model controlling for heart rate and indexed stroke volume (odds ratio 15, P = .03, and odds ratio 0.8, P = .02, respectively). CONCLUSION: Potentially clinically significant AsAo dilation, but not aortic root dilation, is present in a large proportion of pediatric patients with isolated CCHB. Maternal autoantibody seropositivity and decreased left ventricular function at initial echocardiogram correlate with this previously unreported finding. This observation may indicate a previously unrecognized consequence of fetal exposure to these autoantibodies.

    Title Surgical Management of Complete Atrioventricular Septal Defect: Associations with Surgical Technique, Age, and Trisomy 21.
    Date
    Journal The Journal of Thoracic and Cardiovascular Surgery
    Excerpt

    OBJECTIVES: We sought to evaluate the contemporary results after repair of a complete atrioventricular septal defect and to determine the factors associated with suboptimal outcomes. METHODS: The demographic, procedural, and outcome data were obtained within 1 and 6 months after repair of a complete atrioventricular septal defect in 120 children in a multicenter observational study from June 2004 to 2006. RESULTS: The median age at surgery was 3.7 months (range, 9 days to 1.1 years). The type of surgical repair was a single patch (18%), double patch (72%), and a single atrial septal defect patch with primary ventricular septal defect closure (10%). The incidence of residual septal defects and the degree of left atrioventricular valve regurgitation (LAVVR) did not differ by repair type. The median interval of intensive care stay were 4 days, ventilation use 2 days, and total hospitalization 8 days. All were independent of the presence of trisomy 21 (80% of the cohort). The in-hospital mortality rate was 2.5% (3/120). The overall 6-month mortality rate was 4% (5/120). The presence of associated anomalies and younger age at surgery were independently associated with a longer hospital stay. The age at repair was not associated with residual ventricular septal defect or moderate or greater LAVVR at 6 months. Moderate or greater LAVVR occurred in 22% at 6 months, and the strongest predictor for this was moderate or greater LAVVR at 1 month (odds ratio, 6.9; 95% confidence interval, 2.2-21.7; P < .001). CONCLUSIONS: The outcomes after repair of complete atrioventricular septal defect did not differ by repair type or the presence of trisomy 21. An earlier age at surgery was associated with increased resource use but had no association with the incidence of residual ventricular septal defect or significant LAVVR.

    Title Challenges in Echocardiographic Assessment of Mitral Regurgitation in Children After Repair of Atrioventricular Septal Defect.
    Date
    Journal Pediatric Cardiology
    Excerpt

    The validity and reproducibility of echocardiographic methods used to quantify mitral regurgitation (MR) in children with congenital heart disease are unknown. We evaluated the usefulness of methods used to quantify MR in children enrolled in a multicenter trial of enalapril 6 months after surgical repair of an atrioventricular septal defect (AVSD). MR severity in this trial was assessed using body surface area (BSA)-adjusted vena contracta lateral (i-VCW(lat)) and anterior-posterior (i-VCW(ap)) dimensions and cross-sectional area (i-VCA), regurgitant volume/BSA, regurgitant fraction, and qualitative MR grade. For each method, association with left ventricular end-diastolic volume (LVEDVz) and end-diastolic dimension (LVEDDz) z-scores and interobserver agreement were assessed. In 149 children (median age 1 year), i-VCW(lat), i-VCW(ap), and i-VCA were best associated with LVEDVz (r (2) = 0.54, r (2) = 0.24, and r (2) = 0.46, respectively; p < 0.001 for all) and showed the highest interobserver agreement (intraclass correlation coefficient = 0.62, 0.73, and 0.68, respectively). Qualitative MR grade was also associated with LVEDVz (r (2) = 0.31, p < 0.001) and showed modest interobserver agreement (kappa 0.56). Regurgitant volume/BSA and regurgitant fraction were associated with LVEDVz (r (2) = 0.45 and r (2) = 0.45, p < 0.001 for both) but showed poor interobserver agreement [ICC = 0.28 (n = 91) and ICC = 0.17 (n = 76), respectively], and their values were negative in 75% of subjects. In conclusion, echocardiographic assessment of MR severity after AVSD remains challenging. Among the quantitative methods used in this trial, i-VCW and i-VCA performed the best but offered little advantage compared with qualitative MR grade. The utility of regurgitant volume and fraction was severely limited by poor interobserver agreement and frequently negative values.

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