Tetralogy of Fallot in Two Siblings

Abstract

HEREDITARY FACTORS in many types of congenital heart disease have not been clearly delineated.2 Occasionally, heart lesions may be found in association with anomalies of the skeleton 2-4 as well as with multiple system involvement.5-6 Such phenomena as these pose a challenge to medical geneticists and embryologists.The purpose of this report is to present a family study of tetralogy of Fallot in a brother and sister. In addition, the brother manifested bizarre associated anomalies of the head and neck and mental subnormality. Genetic, cytogenetic, and embryologic considerations will be presented. Materials and MethodsThe proband was investigated while he was a patient on the medicine service of the University of Nebraska College of Medicine. Catheterization studies of the right side of the heart were performed. Detailed history from the age of 6 months will be reported. His sister, who had recently undergone surgical correction for tetralogy of Fallot, his mother, and his father were examined. An ex¬ tensive family history was obtained, stressing the possibilities for consanguinity, paternities, miscar¬ riages, stillbirths, and noxious insults during preg¬ nancy, including viral, bacterial, and drug exposures.Details of this interview approach are published elsewhere.7 Family StudyThe proband, was a 17-year-old white boy who had a previous diagnosis of tetralogy of Fallot. The gestational history was normal. He was born by breech delivery and weighed 7 lb (3,175 gm). There was no cyanosis until the age of 6 months when he developed episodes of cyanosis and respiratory dis¬ tress lasting for periods of about 20 minutes. A Potts procedure was performed with good sympto¬ matic relief. The youngster progressed fairly well except for mild exercise intolerance.Psychometric studies at the age of 6 years re¬ vealed an intelligence quotient of 66 on Stanford-Binet tests. Neurologic examination disclosed mild ataxia of the arms and legs and a speech impedi¬ ment with particular difficulty in word formation. The child did poorly in school and later attended an ungraded trade school.On physical examination the patient appeared well nourished and well developed. Blood pressure was 128/28. There was moderate generalized cya¬ nosis at rest and clubbing of the nails. There was facial asymmetry, medial epicanthal and antimongoloid obliquity, hypertelorism, micrognathia, and mild but definite pterygium colli (Fig 1). The palate was high arched. His chest was clear and symmetrical. His heart showed a regular sinus rhythm with a grade 3, rough, systolic murmur, maximum at the fourth and fifth left interspace. There was a loud, grade 3, continuous murmur at the upper left sternal border and heard very well in the back. The pulmonic second sound was not increased. Abdominal examination was normal.Neurological examination revealed mild incoordina¬ tion of the hands and legs but otherwise was not remarkable.Laboratory Findings.-With the exception of a mild secondary polycythemia (Hemoglobin 17.3 gm/100 ml) the complete blood count was n...

A family study of Fallot's tetralogy.

“…Numerous cases of more than one family member being affected by congenital heart disease have appeared in the literature (Pitt, 1962;Holmes, 1965;Lynch, Tips, and Krush, 1966;British Medical Journal, 1967) and the tendency to familial concentration demonstrated (McKeown, Mac-Mahon, and Parsons, 1953;Campbell, 1959;Nora and Meyer, 1966;Jackson, 1968). As a result, recent years have seen the emergence of several family studies, conducted to investigate the hereditary basis of different types of heart defect, persistent ductus arteriosus (Polani and Campbell, 1960), coarctation of the aorta (Campbell and Polani, 1961a), atrial septal defect (Campbell and Polani, 1961b;Nora, McNamara, and Fraser, 1967;Williamson, 1969), ventricular septal defect (Campbell and Goodwin, 1965), congenital aortic stenosis (Zoethout, Bonham Carter, and Carter, 1964), and atrioventricular defects (Emanuel et al, 1968).…”

Tetralogy of Fallot in three sibs

“…The most common cardiac anomaly causing cyanosis is tetralogy of Fallot, representing 4 to 7.5% of all forms of congenital heart defects [Mitchell et al, 1971;Campbell, 1972;Boughman et al, 19871. Various mechanisms of inheritance with varying risk of recurrence were suggested for tetralogy of Fallot. There is evidence for multifactorial determination [Boon et al, 19721, as well as reports suggesting Mendelian inheritance [Lynch et al, 1966;Friedberg, 1974;Jones and Waldman, 1985;Der Kaloustian et al, 19851. We present a family in whom 3 of 5 children were diagnosed with tetralogy of Fallot without other malformations.…”