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

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. Genet Med 2008:10(7):469 -494.

Low-dose dasatinib rescues cardiac function in Noonan syndrome

“…By 8 weeks of age, NS mice developed systolic dysfunction, as indicated by a significant reduction in both EF and FS ( Figure 3D and Supplemental Table 2). These results demonstrate that HCM occurs in NS mice postdevelopmentally, with evidence of deteriorating cardiac function similar to that of some NS patients (6,11,43,44).…”

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

“…The caregivers of adults with syndromes associated with cardiac abnormalities need assistance in transitioning care from pediatric to adult cardiologists [Lin et al, 2008a]. Likewise, the families of older individuals often struggle to find appropriate physicians, which underscore a responsibility of clinical geneticist to assist in the transition of their patients through various stages of life .…”

Diagnosis of Cardiomyopathies: Tips and Tricks for Internists and General Practitioners

“…In these last some typical features are present: a rapid upstroke and downstroke to the arterial pulse; an ejection systolic murmur due to LVOT obstruction (LVOTO) or to systolic anterior movement of the mitral valve (SAM). 23 Other non-cardiovascular signs and symptoms that may suggest a specific cause of HCM are (Table 1): dysmorphorphic face in genetic syndrome such as Danon disease; 3,21,[24][25][26][27] visual impairment in mitochondriopathies; 3,28 palpebral ptosis in mitochondriopathies and myotonic dystrophy; 3,28 sensorineural deafness in mitochondriopathies and Fabry disease; 3,28,29 angiokeratomata in Fabry; 3,29 sensory abnormality and bilateral carpal tunnel syndrome in amyloidosis. 3 The electrocardiogram is typically abnormal in patients with HCM and is often the earliest manifestation, warranting further diagnostic evaluation and having a prognostic role.…”