Mechanisms in the Pathogenesis of Congenital Cardiac Malformations

Association of congenital heart disease, blepharoptosis, and short stature

“…Consequently, the combination of acyanotic CHD and blepharoptosis might possibly be specific. All CHD observed in our cases belongs to the category of malformations related to altered cardiac hemodynamics, classified as CHD pathogenic mechanisms by Bougman et al (1987) and Clark (1987). They also suggested a spectrum of CHD associated with decreased right or left heart flow.…”

“…Clark (1987) stated that as one of the extracardiac events of the hemodynamic alteration, intrauterine infection in the later stage of Fig. 1.…”

“…Development of the eyelid starts in the 6th week of gestation, and is completed by the end of the 5th month (Spaeth et al, 1984). On the other hand, blood flowing the embryonic heart probably affects cardiac formation in the late embryonic and fetal stages of development (later than 6 weeks of gestation) (Clark, 1987). Naganuma and Matsuo (1980) suggested that when critical periods of exteracardiac malformation and CHD appear rather widely and randomly distributed throughout gestation, which is the same pattern seen in chromosomal aberration, there is a strong possibility of genetic factors playing an important role, though the possible role of long-term environmental factors, such as environmental pollution can not be ruled out.…”

Workshop to Identify Critical Windows of Exposure for Children's Health: Cardiovascular and Endocrine Work Group Summary

“…Rather they should be considered individual defects or mechanistically related groups of defects (8) (12). Although the experiment in rats was conducted on skeletal muscle, it may apply to cardiac muscle as well.…”

Atrioventricular canal defect in patients with RASopathies

“…[8][9][10][11][12][13] A defect of the extracellular matrix has been considered a likely pathogenic mechanism for the defects in the spectrum of AVCD. 14,15 AVCD is also the most common CHD found in children with Down syndrome and one of the structural heart defects most frequently associated with extracardiac anomalies in the setting of chromosomal and mendelian disorders. 16,17 Distinct anatomic features are found in AVCD associated with NS.…”