Facial and immunological anomalies associated with tetralogy of Fallot

doi:10.1016/0167-5273(89)90072-7

International Journal of Cardiology

Volume 22, Issue 2, February 1989, Pages 229-236

https://doi.org/10.1016/0167-5273(89)90072-7 Get rights and content

Abstract

Dysmorphic facial features were present in 9 of 31 children with tetralogy of Fallot anatomy (29%). These anomalies included hypertelorism, low-set ears, small mouth, short philtrum, and micrognathia. Ten children had pulmonary atresia, 13 (42%) had a right aortic arch, and 13 had extracardiac congenital anomalies. There were 16 children in the series (52%) who had hospital admissions for important or recurrent infections, and 18 who had immune deficiency: low levels of T lymphocytes were found in 9, low levels of complement in 8, and low immunoglobulins in 3. Embryologically, the cardiac outflow tracts, the aortic arch, the face, and the thymus develop at the same time, and all receive migrating cells from the neural crest. Teratogenic factors possibly produce this constellation of anomalies, which is in the spectrum of the Di George syndrome (third and fourth pharyngeal pouch syndrome). It is of importance for the management of such children, that their immune deficiency be recognized and treated appropriately.

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The morphological features and developmental changes of the philtral dimple: A guide to surgical intervention in cases of cleft lip
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Citation Excerpt :
It is generally recognized that the morphological features of the philtrum can be a critical sign in the diagnosis of certain syndromic diseases characterized by such anomalies as holoprosencephaly and foetal alcohol syndrome. A natural philtral construction so as to have a symmetrical lip is essential in cleft surgery (Sulik et al., 1981; Radford and Thong, 1989; Fukui et al., 2000; Hurmerinta et al., 2002). Therefore, it is important to obtain accurate information about the philtral morphology in normal subjects and the impaired philtral appearance in patients with craniofacial deformities so that functional and aesthetic surgical procedures may be carried out.
This study was undertaken to analyse in detail the morphological features of the philtral dimple and the developmental changes of philtral morphology, including a comparison with patients with a cleft lip.
Fifty-five normal Japanese adults, seventy-five children and fifteen patients with complete unilateral cleft lip were referred for analysis.
3D facial data were acquired with a non-contacting laser scanner. We calculated the desired linear and angular components, defining the features of the philtrum with analysing software.
The philtral dimple was morphologically expressed by the two different deepest points in the horizontal and sagittal sectional view, respectively. These decreased with age and did not show any correlation. In contrast, philtral measurements on the X–Y coordinates increased during the course of development. Most of the linear and angular variables in the patients with the cleft lip had exhibited greater values than the normal subjects, reflecting the deformed philtral morphology.
To obtain an optimally natural philtral construction accompanied by a symmetrical lip in cleft surgery, it is critical to take into consideration both the geometric features of the philtral depth and age-appropriate morphological features of the philtrum as objective criteria.
Cardiac development and perinatal care of infants with neural crest- associated conotruncal defects
1996, Seminars in Perinatology
The neural crest constitutes a developmental field which is a morphogenetically reactive unit of the embryo. Disruption of this developmental field causes a constellation of anomalies to occur. Clustering of phenotypic abnormalities has allowed clinicians to recognize neural crest-associated syndromes with developmental abnormalities of the cardiovascular system, head, and neck. Basic research is beginning to unravel how these phenotypic characteristics are related to specific gene defects expressed during development. Currently, we do not know a one-to-one relationship between phenotypes and genotypes. These neonates with neural crest-associated conotruncal defects are born with types and genotypes. These neonates with neural crest-associated conotruncal defects are born with recognizable complex cyanotic heart defects that are ductal-dependent. It may be difficult to judge if they have DiGeorge or velocardiofacial syndromes; thus, genetic counseling is of importance. Besides their life-threatening cardiovascular defects, these neonates frequently have either transient or persistent hypocalcemia or severe immunodeficiencies that require critical care management. This review will focus on the basic research underpinnings and currently recommended clinical care of infants with neural crest-associated conotruncal defects.
Associated cardiac anomalies in isolated and syndromic patients with tetralogy of fallot
1996, American Journal of Cardiology
To detect in children with tetralogy of Fallot (ToF) the prevalence of associated cardiac anomalies in syndromic and isolated cases, the additional cardiac defects of 150 consecutive patients with ToF (102 isolated and 48 syndromic cases) were evaluated by review of echocardiographic, angiocardiographic, and surgical reports. Syndromic patients were classified into groups with branchial arch defects, Down syndrome, and other genetic conditions. ToF is significantly associated with additional cardiac malformations in patients with branchial arch (11 of 21, p < 0.01) and Down (10 of 20, p < 0.0001) syndromes. The subarterial ventricular septal defect with deficiency of the infundibular septum (4 of 21, p < 0.01) and the right aortic arch (6 of 21, p < 0.05) were prevalent in patients with branchial arch syndromes, whereas atrioventricular canal (10 of 20, p < 0.0001) was associated with ToF in patients with Down syndrome. Peculiar anatomic cardiac patterns are present in children with ToF associated with genetic conditions. An accurate phenotypic analysis is essential in all patients with ToF and may alert the cardiologist to look at additional cardiac anomalies. Moreover, the presence of some associated cardiac anomalies may suggest careful clinical evaluation for genetic syndromes.
Defective antipneumococcal polysaccharide antibody response in children with recurrent respiratory tract infections
1993, The Journal of Allergy and Clinical Immunology
Background: Recurrent pyogenic infections are known to occur in patients with an impaired response to polysaccharide antigens. We investigated the occurrence of deficient responses to pneumococcal capsular polysaccharides in patients with recurrent respiratory tract and recurrent systemic infections.
Methods: Forty-five patients, 1.7 to 17.1 years of age, were immunized with 23-valent pneumococcal polysaccharide vaccine. Antibody levels to seven pneumococcal serotypes (3, 4, 6A, 9N, 14, 19F, 23F) were determined by ELISA before and after immunization. In addition, patients received a booster immunization with diphtheria toxoid, tetanus toxoid, and poliomyelitis virus vaccine.
Results: Thirty-five patients had normal serum immunoglobulin levels. Five of these patients (14%) had low antipneumococcal preimmunization antibody levels and failed to respond to pneumococcal vaccination, whereas the response to booster immunization with protein antigens was appropriate. Three patients were younger than 3 years old, and one had a family history of IgG2 deficiency. Low IgG developed in a fifth patient during follow-up. Ten patients had a humoral immunodeficiency. Seven of these patients failed to respond to pneumococcal vaccination.
Conclusions: We conclude that a defective immune response to polysaccharide antigens in patients requires long-term follow-up to distinguish transient maturational delay from a persistent selective impaired response to polysaccharide antigens, which on occasion may precede the development of humoral immunodeficiency disease.
Teratology, genetics, and recurrence risks
1993, Cardiology Clinics
New concepts in developmental cardiology are based on the understanding of cell and tissue functions and their genetic control. Epidemiologic studies reveal potential risk factors affecting specific embryologic processes. Genetic studies of heterogeneity of anatomic phenotypes are linked with information on variability in gene expressions. Familial occurrence of congenital heart disease in siblings and offspring of patients is elevated, requiring further detailed genetic investigations.
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
1991, Genomics
DiGeorge syndrome (DGS) is a developmental field defect of the third and fourth pharyngeal pouches. It is associated wit with deletion of 22q11 in 11% of cases. Molecular genetic analysis with probes from 22q11-pter reveals that a subset of markers is hemizygous in DGS patients with normal karyotypes. There is no apparent difference in the phenotype or the severity of the disorder between patients with the smallest detectable submicroscopic deletion and those with the largest cytogenetically visible abnormality. A microdeletion was found in a mildly affected child and in the severely affected child of a mildly affected father. Dysmorphology, especially cardiac outflow tract anomalies, resulting from 22q11 deletion may be more common than currently realized since chromosomes are unlikely to be checked if the complete spectrum of DGS is not present. Antenatal diagnosis, through detection of hemizygosity at 22q11, will be a possibility for mildly affected parents unwilling to risk the birth of a severely affected child.

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Original studyFacial and immunological anomalies associated with tetralogy of Fallot

Abstract

J Pediatr

Lancet

Am J Cardiol

Am J Cardiol

Clin Perinatol

Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease

Am J Dis Child

Supravalvular aortic stenosis

Circulation

Congenital cardiovascular disease and anomalies of the third and fourth pharyngeal pouch

Circulation

The developing human

Characterization of conotruncal malformations following ablation of “cardiac” neural crest

Anat Rec

Cardiac embryology. Its relevance to congenital heart disease

Am J Dis Child

Truncus arteriosus and facial dysmorphism

Aust Pediatr J

The spectrum of the Di George syndrome in patients with truncus arteriosus

Pediatr Cardiol

Conotruncal anomaly face

Conotruncal anomaly face syndrome: its heterogeneity and association with thymus involution

Recognisable patterns of human malformation

The malformed infant and child. An illustrated guide

The immunocompetence of children with congenital heart disease

Int Arch Allergy Appl Immunol

Original study
Facial and immunological anomalies associated with tetralogy of Fallot