Complete Transposition of Great Vessels

Lynch, Henry T.; Grissom, Robert L.; Mooring, Paul K.; Krush, Anne J.

doi:10.1001/jama.1964.03070240015003

Cited by 2 publications

(1 citation statement)

References 10 publications

(2 reference statements)

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“…The spectrum of anomalies resembled that found in keeshonden (including patent ductus arteriosus and tricuspid atresia). Lynch et al (47), in discussing familial aggregations of cardiac malformations which are presumably due to faulty formation of the truncoconal septum in man, also postulated that single mutant genes affecting this morphogenetic process may interact with the environment to produce a variety of defects, including tetralogy of Fallot, persistent truncus arteriosus, and transposition of the great vessels.…”

Section: Discussionmentioning

confidence: 99%

Epidemiologic and Genetic Studies of Congenital Heart Disease in the Dog

Patterson

1968

Circulation Research

164

124

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The prevalence rate for cardiovascular malformations in dogs presented to a large university veterinary clinic was 6.8 per 1000. Patent ductus arteriosus, as in man, was found predominantly in females. Breed-specific prevalence rates were significantly greater in purebred dogs than in mongrels, and the breed distributions of patent ductus arteriosus, pulmonic stenosis, subaortic stenosis, persistent right aortic arch, and tetralogy of Fallot were significantly different than would be expected if all breeds were equally susceptible to each type of malformation. On the basis of these observations, two hypotheses were made: (1) Genetic factors are determinants of certain types of congenital heart disease in the dog. (2) These genetic factors have specific effects on cardiac morphogenesis, resulting in specific types of cardiovascular malformations. Preliminary genetic studies confirmed the specific hereditary transmission of valvular pulmonic stenosis in beagles, persistent right aortic arch in German shepherds, and conal septal defects (including ventricular septal defects and tetralogy of Fallot) in keeshonden. The pattern of inheritance of these defects was not consistent with any simple genetic hypothesis. Patent ductus arteriosus in dogs of poodle ancestry and fibrous subaortic stenosis in Newfoundlands were shown provisionally to be transmitted in a manner consistent with autosomal dominant inheritance. The significance of these findings is considered in relation to present and future understanding of the etiology and pathogenesis of congenital heart disease.

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Section: Discussionmentioning

confidence: 99%

Epidemiologic and Genetic Studies of Congenital Heart Disease in the Dog

Patterson

1968

Circulation Research

164

124

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Tetralogy of Fallot in Two Siblings

Lynch¹,

Tips²,

Krush³

1966

Am J Dis Child

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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...

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Complete Transposition of Great Vessels

Cited by 2 publications

References 10 publications

Epidemiologic and Genetic Studies of Congenital Heart Disease in the Dog

Epidemiologic and Genetic Studies of Congenital Heart Disease in the Dog

Tetralogy of Fallot in Two Siblings

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