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Review
. 2008 Jul;10(7):469-94.
doi: 10.1097/gim.0b013e3181772111.

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Angela E Lin  1 , Craig T Basson, Elizabeth Goldmuntz, Pilar L Magoulas, Deborah A McDermott, Donna M McDonald-McGinn, Elspeth McPherson, Colleen A Morris, Jacqueline Noonan, Catherine Nowak, Mary Ella Pierpont, Reed E Pyeritz, Alan F Rope, Elaine Zackai, Barbara R Pober
Affiliations
Review

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Angela E Lin et al. Genet Med. 2008 Jul.

Abstract

Cardiovascular abnormalities, especially structural congenital heart defects, commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected congenital heart defects such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis, and pulmonary stenosis. As these individuals age, they contribute to the growing population of adults with special health care needs. Although most will require longterm cardiology follow-up, primary care providers, geneticists, and other specialists should be aware of (1) the type and frequency of cardiovascular abnormalities, (2) the range of clinical outcomes, and (3) guidelines for prospective management and treatment of potential complications. This article reviews fundamental genetic, cardiac, medical, and reproductive issues associated with common genetic syndromes that are frequently associated with a cardiovascular abnormality. New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome.

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Figures

Fig. 1
Fig. 1
26-year-old woman with deletion 22q11.2 syndrome who had repair of a double aortic arch. Her ears are somewhat small and her palpebral fissures are relatively narrow compared to the prominence of her nose, she does not have the classic facies that can be seen in some young children with velocardiofacial syndrome. Her life has been challenged by an anxiety disorder with features of psychosis, and having a son with deletion 22q11.2. (courtesy of Alan F. Rope, M.D.).
Fig. 2
Fig. 2
48-year-old man with deletion 22q11.2 syndrome who had a stenotic, bicuspid aortic valve that required replacement in his mid-twenties. His facial appearance does not show the common dysmorphic features associate with velocardiofacial syndrome. He is receiving regular treatment for schizophrenia (courtesy of Alan F. Rope, M.D.).
Fig. 3
Fig. 3
19-year-old woman with Down syndrome (47, XX,+21) and an unrepaired small membranous ventricular septal defect, which has remained hemodynamically insignificant since childhood (NHYA I). She has small, slightly upslanted palpebral fissures, and a small mouth. (courtesy of Catherine B. Nowak, M.D. and family)
Fig. 4
Fig. 4
22-year-old woman with Turner syndrome (45, X) who had a bicuspid aortic valve, mitral valve prolapse with mitral regurgitation and coarctation repair at age 2 ½ years, and balloon angioplasty and stent insertion at age 20 years. She received growth hormone for almost three years. She selected this photo to emphasize that the appearance of many adult women with Turner syndrome is not unusual, aside from short stature (height 5′ 1″) and bears little resemblance to the images portrayed in older medical textbooks (courtesy of Angela E. Lin, M.D. and family).
Fig. 5
Fig. 5
Woman with Williams-Beurens syndrome at 5 and 20 and 1/2 years old illustrating the change in facial appearance. The adult has a prominenet supraorbital ridge and a narrow nasal root, but the facial asymmetry, full nasal tip, and wide mouth persist. She had repair of supravalvar aortic stenosis (hourglass type) at age 6 years (courtesy of Colleen A. Morris, M.D.)
Fig. 6
Fig. 6
45-year-old man with classic Noonan syndrome facial appearance had surgical repair of pulmonary valvular stenosis at age 5 years (courtesy of Mary Ella Pierpont M.D. Ph.D. and patient). As an adult, his facial appearance is that of an inverted triangle with a high prominent forehead, small pointed twin, and downslanted palpebral fissures.
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