ABSTRACT
BACKGROUND: Transcatheter (TC) atrial septal defect (ASD) closure has been the mainstay of therapy for secundum-type ASDs for over 20 years. AIMS: This nationwide cohort evaluated the long-term outcome of transcatheter-closed ASDs. METHODS: The study enrolled every transcatheter ASD closure performed in Finland from 1999 to 2019. Five age, sex, and municipality-matched controls per ASD patient were gathered from the general population. The median follow-up period was 5.9 years (range 0-20.8). We used the hospital discharge register to gather all hospital visits and diagnoses. Closure complications and echocardiographic changes were collected from the electronic health records. RESULTS: Transcatheter ASD closure was performed in 1000 patients (68.5% females) during the study period. The median (range) age at the time of the procedure was 37.9 (1.8-87.5) years. ASD patients had an increased risk for new-onset atrial fibrillation (RR 2.45, 95% CI: 1.84-3.25), migraine (RR 3.61, 95% CI: 2.54-5.14), ischemic heart disease (RR 1.73, 95% CI: 1.23-2.45), ventricular fibrillation/tachycardia (RR 3.54 (95% CI: 1.48-8.43) and AV conduction disorder (RR 3.60, 95% CI: 1.94-6.70) compared to the control cohort. Stroke risk was not increased (RR 1.36, 95% CI: 0.91-2.03). Adverse events occurred in 6.3% (n = 63) of the patients, including four erosions and ten device embolizations. CONCLUSION: After TC closure of ASD, patients had a higher risk of new-onset atrial fibrillation and migraine than controls without ASD. As novel findings, we found an increased risk for ischemic heart disease, AV conduction disorders, and ventricular fibrillation/tachycardia.Key messagesEven though patients have an excellent overall prognosis after percutaneous ASD closure, the increased incidence of major comorbidities like atrial fibrillation and heart failure prompts more thorough lifelong follow-up.This study's novel findings revealed the increased risk for ischemic heart disease, AV conduction disorders, or ventricular tachycardia/fibrillation during the follow-up.Major complications after the closure are rare; erosion is seen in 0.4% of the patients and embolization in 1.0% of the patients.
Subject(s)
Atrial Fibrillation , Heart Septal Defects, Atrial , Female , Humans , Adult , Middle Aged , Aged , Aged, 80 and over , Male , Cardiac Catheterization/adverse effects , Cardiac Catheterization/methods , Atrial Fibrillation/epidemiology , Atrial Fibrillation/etiology , Treatment Outcome , Ventricular Fibrillation/etiology , Heart Septal Defects, Atrial/epidemiology , Heart Septal Defects, Atrial/surgery , Heart Septal Defects, Atrial/etiology , Retrospective StudiesABSTRACT
OBJECTIVE: To evaluate whether a nationwide prenatal anomaly screening programme improves detection rates of univentricular heart (UVH) and transposition of great arteries (TGA), and whether maternal risk factors for severe fetal heart disease affect prenatal detection. DESIGN: Population-based cohort study. SETTING: Nationwide data from Finnish registries 2004-14. POPULATION: A total of 642 456 parturients and 3449 terminated pregnancies due to severe fetal anomaly. METHODS: Prenatal detection rates were calculated in three time periods (prescreening, transition and screening phase). The effect of maternal risk factors (obesity, in vitro fertilisation, pregestational diabetes and smoking) was evaluated. MAIN OUTCOME MEASURES: Change in detection rates and impact of maternal risk factors on screening programme efficacy. RESULTS: In total, 483 cases of UVH and 184 of TGA were detected. The prenatal detection rate of UVH increased from 50.4% to 82.8% and of TGA from 12.3% to 41.0% (P < 0.0001). Maternal risk factors did not affect prenatal detection rate, but detection rate differed substantially by region. CONCLUSIONS: A nationwide screening programme improved overall UVH and TGA detection rates, but regional differences were observed. Obesity or other maternal risk factors did not affect the screening programme efficacy. The establishment of structured guidelines and recommendations is essential when implementing the screening programme. In addition, a prospective screening register is highly recommended to ensure high quality of screening. TWEETABLE ABSTRACT: Implementation of a nationwide prenatal anomaly screening improved detection rates of UVH and TGA.
Subject(s)
Heart Ventricles/abnormalities , Prenatal Diagnosis/standards , Transposition of Great Vessels/diagnosis , Adult , Female , Fetal Diseases/diagnosis , Finland/epidemiology , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/embryology , Heart Defects, Congenital/epidemiology , Humans , Infant, Newborn , Maternal Age , Pregnancy , Pregnancy Complications/epidemiology , Prenatal Diagnosis/methods , Prevalence , Program Evaluation , Risk Factors , Transposition of Great Vessels/embryology , Transposition of Great Vessels/epidemiologyABSTRACT
Mulibrey nanism is an autosomal recessive disease with severe growth failure and multiple organ involvement. Heart manifestations include constrictive pericarditis and restrictive cardiomyopathy. The purpose of this study was to evaluate left ventricular (LV) diastolic and systolic function in children with mulibrey nanism utilizing two- and three- dimensional (2-D and 3-D) echocardiography and measurement of serum levels of natriuretic peptides. Of the 30 children diagnosed with mulibrey nanism in Finland, 26 participated. The control group comprised 26 children. In 2-D echocardiography, the interventricular septum and LV posterior wall were thicker in patients. The left atrium/aorta ratio measured a median 1.8 (range, 1.4-2.5) in patients and 1.3 (range, 1.0-1.7) in controls (p < 0.001). Patients differed from controls in several indices of diastolic LV function. In 3-D echocardiography, LV end diastolic volume measured a median of 51.9 ml/m(2) (range, 33.3-73.4) in patients and 59.7 ml/m(2) (range, 37.6-87.6) in controls (p = 0.040), and serum levels of N-terminal proatriopeptide and N-terminal pro-brain natriuretic peptide measured, respectively, a median of 0.54 nmol/L (range, 0.04-4.7) and 289 ng/L (range, 18-9170) in patients and 0.28 nmol/L (range, 0.09-0.72; p < 0.001) and 54 ng/L (range, 26-139; p < 0.001) in controls. They correlated with several indices of diastolic LV function. In a significant proportion of children with mulibrey nanism, myocardial function is impaired. Significant correlations appeared between indices of LV function, size of the left atrium, and levels of natriuretic peptides, showing that measurement of serum levels of natriuretic peptides is a useful follow-up method despite its dependence on loading conditions.
Subject(s)
Mulibrey Nanism/complications , Natriuretic Peptide, Brain/blood , Peptide Fragments/blood , Ventricular Dysfunction, Left/diagnostic imaging , Adolescent , Age Factors , Blood Flow Velocity , Child , Child, Preschool , Echocardiography, Three-Dimensional/methods , Epidemiologic Methods , Female , Heart Atria/pathology , Heart Rate , Humans , Infant , Male , Mulibrey Nanism/blood , Ventricular Dysfunction, Left/complications , Ventricular Dysfunction, Left/therapyABSTRACT
Balloon dilation of coarctation of the aorta has been found to be an effective modality for treatment. Recently, in the older child and adult, implantation of endovascular stents has been considered a clinical alternative to dilation alone. Little is known, however, of the effect of implantation of stents on aortic compliance. To investigate this impact of implantation, we studied 18 piglets, divided into experimental and control groups. At median weight of 14 kg, 2 pairs of ultrasonic crystals were implanted on the aortic wall. After 1 week, all animals underwent catheterization. In the experimental group, a 3 cm long balloon expandable stent was implanted in the descending thoracic aorta between the pairs of crystals. Measurements of arterial pressure and dimensions were performed before implantation and immediately thereafter, and at follow-up catheterization. The index of stiffness, beta, and the the elastic modulus of aortic pressure-strain, were calculated as indexes of arterial compliance. The change in compliance during the period of study was not different between groups. At follow-up, no difference was observed between groups in the velocity of the aortic pulse wave, the augmentation index, or the maximum velocity of flow of blood. The stents remained patent and did not affect aortic growth or medial wall thickness. There was no difference between groups in levels of plasma renin activity and serum aldosterone. In this animal model studied over the short term, therefore, implantation of stents does not affect aortic compliance. Further studies are required to elucidate the long term effects of stents on the hemodynamics affecting the aortic wall and local flow dynamics.
Subject(s)
Aorta, Thoracic/physiopathology , Aortic Coarctation/physiopathology , Stents/adverse effects , Animals , Aortic Coarctation/surgery , Blood Flow Velocity , Cardiac Catheterization , Compliance , Linear Models , SwineABSTRACT
OBJECTIVE: To review the outcomes of transcatheter closure of atrial septal defects using the Cardio-Seal implant. DESIGN: A prospective interventional study. SETTING: Tertiary referral centre. PATIENTS: The first 50 patients (median age 9.7 years) who underwent attempted percutaneous occlusion. INTERVENTIONS: Procedures were done under general anaesthesia and transoesophageal guidance between December 1996 and July 1998. MAIN OUTCOME MEASURES: Success of deployment, complications, and assessment of right ventricular end diastolic diameter, septal wall motion, and occlusion status by echocardiography. RESULTS: The median balloon stretched diameter was 14 mm. Multiple atrial septal defects were present in 11 patients (22%) and a deficient atrial rim (< 4 mm) in 19 (38%). In four patients (8%), a second device was implanted after removal of an initially malpositioned first implant. There were no significant immediate complications. All patients except one were discharged within 24 hours. At the latest follow up (mean 9.9 months) a small shunt was present in 23 patients (46%), although right ventricular end diastolic dimensions (mean (SD)) corrected for age decreased from 137 (29)% to 105 (17)% of normal, and septal motion abnormalities normalised in all but one patient. No predictors for a residual shunt were identified. Supporting arm fractures were detected in seven patients (14%) and protrusion of one arm through the defect in 16 (32%), the latter being more common in those with smaller anterosuperior rims. No untoward effects resulted from arm fractures or protrusion. There were no complications during follow up, although five patients (10%) experienced transient headaches. CONCLUSIONS: The implantation of the Cardio-Seal device corrects the haemodynamic disturbances secondary to the right ventricular volume overload, with good early outcome.
Subject(s)
Cardiac Catheterization , Heart Septal Defects, Atrial/therapy , Prostheses and Implants , Prosthesis Implantation , Adolescent , Adult , Aged , Child , Child, Preschool , Echocardiography, Three-Dimensional , Echocardiography, Transesophageal , Female , Follow-Up Studies , Heart Septal Defects, Atrial/diagnosis , Humans , Male , Middle Aged , Prospective Studies , Prostheses and Implants/adverse effectsABSTRACT
Hypoplasia of the transverse aortic arch is commonly associated with aortic coarctation. Persistent or recurrent obstruction can occur at this level after successful repair of the native coarcted segment. The purpose of this report is to present a new technique to treat such lesions, namely with implantation of a balloon-expandable stent. This approach was used successfully in 4 children with such hypoplasia occurring after repair of coarctation. Implantation led to both anatomical and physiological relief of obstruction in all. The patients tolerated the procedure, and there were no major adverse events.
Subject(s)
Aortic Coarctation/surgery , Stents , Adolescent , Angiocardiography , Aorta, Thoracic/diagnostic imaging , Aorta, Thoracic/pathology , Aorta, Thoracic/surgery , Child , Hemodynamics , Humans , MaleABSTRACT
Two children (a 9 year old boy and a 2.5 year old girl) with coronary artery fistulae communicating with the right ventricle underwent successful transcatheter occlusion using an antegrade technique. A Rashkind double umbrella device was used in one case and an Amplatzer duct occluder in the other.
Subject(s)
Coronary Vessels , Embolization, Therapeutic , Fistula/therapy , Heart Diseases/therapy , Child , Child, Preschool , Embolization, Therapeutic/methods , Female , Humans , MaleABSTRACT
A restrictive interatrial communication can complicate the management of complex congenital heart disease. The purpose of this report is to present a new technique to achieve a patent and reliable interatrial communication by using an endovascular stent. A stent was successfully implanted across a fenestrated extracardiac conduit in two patients with low cardiac output after Fontan operations and across the interatrial septum in a patient with double inlet left ventricle and severe left atrioventricular stenosis. The procedures were uncomplicated and all patients showed immediate hemodynamic improvement. Cathet. Cardiovasc. Intervent. 47:310-313, 1999.
Subject(s)
Heart Defects, Congenital/therapy , Stents , Child, Preschool , Fontan Procedure , Heart Atria , Humans , Male , Postoperative Complications/therapyABSTRACT
Over the past decade, transcatheter interventions have become increasingly important in the treatment of patients with congenital heart lesions. These procedures may be broadly grouped as dilations (e.g., septostomy, valvuloplasty, angioplasty, and endovascular stenting) or as closures (e.g., vascular embolization and device closure of defects). Balloon valvuloplasty has become the treatment of choice for patients in all age groups with simple valvar pulmonic stenosis and, although not curative, seems at least comparable to surgery for congenital aortic stenosis in newborns to young adults. Balloon angioplasty is successfully applied to a wide range of aortic, pulmonary artery, and venous stenoses. Stents are useful in dilating lesions of which the intrinsic elasticity results in vessel recoil after balloon dilation alone. Catheter-delivered coils are used to embolize a wide range of arterial, venous, and prosthetic vascular connections. Although some devices remain investigational, they have been successfully used for closure of many arterial ducts and atrial and ventricular septal defects. In the therapy for patients with complex CHD, best results may be achieved by combining cardiac surgery with interventional catheterization. The cooperation among interventional cardiologists and cardiac surgeons was highlighted in a report of an algorithm to manage patients with tetralogy of Fallot or pulmonary atresia with diminutive pulmonary arteries, involving balloon dilation, coil embolization of collaterals, and intraoperative stent placement. In this setting, well-planned catheterization procedures have an important role in reducing the overall number of procedures that patients may require over a lifetime, with improved outcomes.
Subject(s)
Cardiac Catheterization/methods , Catheterization/methods , Heart Diseases/diagnosis , Heart Diseases/therapy , Radiography, Interventional/methods , Adolescent , Adult , Algorithms , Cardiac Surgical Procedures , Child , Child, Preschool , Combined Modality Therapy , Humans , Infant , Infant, Newborn , Pediatrics , Stents , Treatment OutcomeABSTRACT
Cardiotoxicity is a potential adverse effect of anthracycline (A) therapy. Radiotherapy (XRT) may also cause a variety of cardiac complications. The purpose of the present study was to evaluate these cardiac side-effects in children and adolescents treated for cancer. We assessed the cardiac status of 91 patients, divided into three groups: Group A (n = 53) had anthracyclines at a mean cumulative dose of 410 mg/m2, group A+XRT (n = 26) had both chest irradiation (XRT) and A (mean 360 mg/m2), and group XRT (n = 12) had XRT alone. The patients differed from the controls in both systolic and diastolic indices of myocardial function. In echocardiography, the left ventricular (LV) contractility was abnormal in 32% in group A, in 50% in group A+XRT, and in 8% in group XRT. In radionuclide cineangiography, the LV ejection fraction was subnormal in 19% in group A, in 24% in group A+XRT, and in 1 patient in group XRT. A higher cumulative dose of A predicted decreased contractility. Treatment with A and/or XRT often leads to cardiotoxicity. Although in most cases this cardiotoxicity seems to be mild and subclinical, the long-term clinical sequelae merit further evaluation.
Subject(s)
Antibiotics, Antineoplastic/adverse effects , Heart Diseases/etiology , Neoplasms/therapy , Radiation Injuries/etiology , Adolescent , Adult , Child , Child, Preschool , Combined Modality Therapy , Daunorubicin/adverse effects , Doxorubicin/adverse effects , Female , Follow-Up Studies , Heart/physiopathology , Heart Diseases/chemically induced , Heart Diseases/diagnosis , Humans , Male , Radiotherapy/adverse effectsABSTRACT
OBJECTIVE: The aim of the study was to evaluate the cardiopulmonary exercise tolerance in children and adolescents after chest irradiation and anticancer chemotherapy. METHODS: We studied 30 subjectively asymptomatic patients aged 8 to 25 years treated for pediatric malignancies with chest irradiation (XRT) +/- chemotherapy. The median interval since XRT was 7 (range, 2 to 13) years. The median XRT dose for mediastinum and/or lungs was 2550 (range, 1000 to 5100) cGy. The median cumulative dose of anthracyclines was 250 (range, 0 to 480) mg/m2. Cardiac function and exercise tolerance were evaluated by electrocardiography, echocardiography, radionuclide cineangiography, and exercise test with gas exchange analysis. RESULTS: The patients differed from normal controls in systolic indices of myocardial function. In echocardiography, the left ventricular contractility was abnormal in 14/30 patients. In radionuclide cineangiography, the left ventricular ejection fraction was subnormal in 6/30 patients, and in 9/30 patients the rise in ejection fraction during exercise was inadequate (< 5%). In exercise testing, the mean (+/- SD) maximum workload attained was 2.7 (+/- 0.7) watts/kg, and the mean (+/- SD) maximum oxygen consumption was 35.4 (+/- 9.7) mL/min/kg. Both variables were < 80% of predicted values in 11 patients. CONCLUSIONS: XRT and anticancer chemotherapy very often lead to late cardiopulmonary toxicity and impaired exercise tolerance. Although in most cases this toxicity seemed to be mild and subclinical, the long-term clinical sequels merit further evaluation.
Subject(s)
Exercise Tolerance/drug effects , Exercise Tolerance/radiation effects , Adolescent , Antineoplastic Agents/adverse effects , Child , Child, Preschool , Cineangiography , Combined Modality Therapy , Echocardiography , Female , Follow-Up Studies , Humans , Male , Neoplasms/drug therapy , Neoplasms/radiotherapy , Radiotherapy/adverse effects , Ventricular Function, Left/drug effects , Ventricular Function, Left/radiation effectsABSTRACT
In an autopsy series of children with cancer, histopathologic myocardial changes caused by anthracyclines (A) were evaluated. The series comprised three groups: group A, 9 patients given A whose myocardial function had been evaluated before death; group B, 10 patients given A, but no lifetime echocardiographic evaluation; group C, 8 patients treated with chemotherapy regimens not including A. Both the cumulative A dose (P < 0.01) and the age of the patient at death (P < 0.001) were correlated with the pathologic changes in the myocardium. In echocardiography of group A patients, left ventricular (LV) contractility was subnormal in 5 (56%) patients, and the afterload was elevated in 3 (33%); the morphologic changes correlated with the LV wall stress (= afterload) (P < 0.05) and with LV fractional shortening (P < 0.04). We conclude that clinical decisions about A therapy should be based on cumulative A dose and myocardial function tests. Myocardial biopsies should be restricted to selected cases.
Subject(s)
Cardiomyopathies/chemically induced , Daunorubicin/adverse effects , Doxorubicin/adverse effects , Heart/drug effects , Myocardium/pathology , Neoplasms/drug therapy , Adolescent , Autopsy , Cardiomyopathies/pathology , Child , Child, Preschool , Echocardiography/drug effects , Female , Heart/physiopathology , Heart Function Tests , Humans , Infant , Leukemia/drug therapy , Lymphoma, Non-Hodgkin/drug therapy , Male , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapyABSTRACT
In a double blind study of 58 episodes of fever and profound neutropenia, children with cancer received either recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF) or placebo, combined with identical antimicrobial therapy, i.e. imipenem, on admission. The criteria for discontinuation of therapy were identical. A difference was demonstrated both in the number of hospital days, totaling 252 days in the rhGM-CSF group and 354 in the placebo group, days receiving antibiotics (220 vs. 322), and in the resolution of neutropenia (4.5 days vs. 6.0 days; P < 0.05). The number of episodes requiring antimicrobial therapy for longer than 10 days was 5 of 28 (12%) in the rhGM-CSF group as opposed to 15 of 30 (50%) in the placebo group (P = 0.01). rhGM-CSF was well-tolerated. We conclude that rhGM-CSF was efficacious in accelerating myeloid recovery and reducing the length of hospitalization in febrile neutropenia.
Subject(s)
Fever/drug therapy , Granulocyte-Macrophage Colony-Stimulating Factor/therapeutic use , Neutropenia/drug therapy , Adolescent , Anti-Bacterial Agents/therapeutic use , Antineoplastic Agents/adverse effects , Bacterial Infections/drug therapy , Bacterial Infections/etiology , Child , Child, Preschool , Cost-Benefit Analysis , Double-Blind Method , Female , Fever/etiology , Humans , Infant , Length of Stay/economics , Length of Stay/statistics & numerical data , Male , Neoplasms/complications , Neoplasms/drug therapy , Neutropenia/chemically induced , Recombinant Proteins/therapeutic useABSTRACT
Of 41 pediatric patients currently alive after total body irradiation (TBI) and bone marrow transplantation (BMT), 30 (allogeneic 20, autologous 10) participated in the study. Pre-transplant therapy included high-dose cyclophosphamide (CY) and TBI (n = 12), high-dose CY alone (n = 4), high-dose Ara C and TBI (n = 5), cisplatinum, high-dose melphalan, VP-16 and TBI (n = 9). Acute cardiotoxicity was suggested by a > 15% decrease in the QRS voltage sum of the limb leads in all patients. Late cardiotoxicity was evaluated 0.5-10 years (median 5 years) post-transplant by ECG, chest radiograph, radionuclide cineangiography (RNCA) and echocardiography (ECHO). Six patients had a persistent decrease in the QRS amplitudes. They were all asymptomatic but had abnormal systolic function at the time of the study. BMT patients differed from their controls in the mean values of both the systolic and diastolic indices of myocardial function shown by RNCA and ECHO. Treatment was associated with decreased myocardial contractility. Isovolumic relaxation time and deceleration time were longer in BMT patients than in controls. Myocardial damage seemed to be worst after CY while high-dose Ara C was tolerated best. We conclude that both acute and late cardiotoxicity may occur after BMT, calling for long-term cardiac follow-up.
Subject(s)
Bone Marrow Transplantation/adverse effects , Heart/physiology , Adolescent , Adult , Blood Pressure/physiology , Child , Child, Preschool , Cisplatin/therapeutic use , Combined Modality Therapy , Cyclophosphamide/therapeutic use , Cytarabine/therapeutic use , Dose-Response Relationship, Drug , Echocardiography , Female , Humans , Infant , Leukemia, Myeloid, Acute/therapy , Male , Melphalan/therapeutic use , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Radionuclide Angiography , Time Factors , Transplantation, Autologous , Transplantation, Homologous , Whole-Body IrradiationABSTRACT
Twenty children 1-17 (median, 5.5) years of age received GM-CSF during chemotherapy-induced neutropenia at the dose of 5 micrograms/kg/day, continued until the absolute neutrophil count (ANC) exceeded 500 x 10(6)/liter. Twelve children with solid tumors received GM-CSF after courses of conventional chemotherapy (VP-16 + ifosfamide or "6 in 1"). One course followed by GM-CSF was compared to identical courses without GM-CSF in the same patients. Eight children with recurrent/poor risk malignancies received GM-CSF after marrow-ablative therapy and autologous bone marrow transplantation (ABMT). Their engraftment data were compared to matched historical controls. In both groups GM-CSF accelerated myeloid recovery, which was preceded by the appearance of immature myeloid elements in bone marrow. The ANC levels of 200, 500, and 1,000 x 10(6)/liter were exceeded 2, 3 (P < 0.05), and 6 (P < 0.005) days earlier with GM-CSF in the conventional chemotherapy group, and 6, 10 (P < 0.05), and 9 days earlier in the ABMT group, as compared to the controls. All adverse effects observed were mild, including skin rashes, nasal stuffiness, general achiness, nausea, and fever. We conclude that GM-CSF is well tolerated in children and accelerates myeloid recovery in chemotherapy-induced neutropenia.
Subject(s)
Antineoplastic Combined Chemotherapy Protocols/adverse effects , Granulocyte-Macrophage Colony-Stimulating Factor/therapeutic use , Neutropenia/drug therapy , Adolescent , Blood Cell Count , Bone Marrow Transplantation , Child , Child, Preschool , Drug Administration Schedule , Female , Granulocyte-Macrophage Colony-Stimulating Factor/administration & dosage , Granulocyte-Macrophage Colony-Stimulating Factor/adverse effects , Humans , Infant , Infections/drug therapy , Infections/etiology , Male , Neoplasms/drug therapy , Neutropenia/chemically induced , Neutrophils , Pilot Projects , Recombinant Proteins/administration & dosage , Recombinant Proteins/adverse effects , Recombinant Proteins/therapeutic use , Transplantation, AutologousABSTRACT
Deletion 3q27----3qter in an infant is described. A chromosomal abnormality was suspected because of minor facial dysmorphism and closed parietal meningocele. On the first day of life, a large exudative inflammation appeared on the skin of her back, which completely resolved after 1 week. Biopsy showed dilated sweat gland openings resembling miliaria rubra, which has not been previously reported in this age group. It is unclear if the skin change was due to the chromosomal abnormality. The meningocele was repaired at age 8 months. At age 20 months, slight neurodevelopmental delay was evident, the main features being hypertonicity and inability to walk without support. The patient has two healthy sisters, and prometaphase chromosome studies in both parents were normal. This infant represents the first example of del3q27----3qter and the first reported association of meningocele with an abnormality of chromosome 3.