The, Genetics And Familial Inheritance And Cardiovascular Disease History

1662 WordsOct 12, 20147 Pages
Pedigree Paper 1.2 Lipoprotein (a) genetics and Familial Inheritance and Cardiovascular Disease History John H. Sink II Physician Assistant jsinkii@thejonescenter.com The Jones Center for Diabetes and Endocrine Wellness/Georgia Regents University AbstactAbstract What is the probable genetic causation of excessive cardiovascular disease in the Family pedigree presented? Are any lifestyle issues causing an exacerbation or alleviation of this disease? An assessment of a pedigree tracking as much assessable patient information to 4 generations was completed. The assessment was undertaken to see if a discernable genetic abnormality and/or trait may be responsible for the excessive cardiovascular disease in this particular family. Also where…show more content…
The higher associated levels of Lp(a) the more increased risk of disease at an early age. Lp(a) being a known autosomal dominant genetic trait the expected familial pattern would be around 50% as it is in this family. Some family members may be avoiding disease from various interventions and lifestyle choices such as niacin therapy, weight loss, and physical activity as well as lack of concomitant disease. Discussion The pedigreed family shows an excessive portion of family members with cardiovascular disease (coronary artery disease, cerebrovascular disease, peripheral vascular disease) in one half of the subjectssubject’s lineage. The paternal side of the target subject has a sibling, first cousin, uncle, three great uncles, two aunts and great – great grandfather with some form of cardiovascular disease. The maternal side has only a grandfather with cardiovascular disease. If the trait in question Lp(a) were autosomal dominant one would expect around a 50% gene expression in the studied group. Nine of twenty in this particular lineage currently show or have shown disease and two subjects are unable to assess (UTA). This would suggest autosomal dominant inheritance in the paternal half of the target subject lineage with a suspected two subject incidence yet to be found or attributed. Diabetes mellitus, Hypertension, Hyperlipidemia, smoking and obesity are known
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