1. Genetics of Congenital and Acquired Cardiovascular Disease
Hugo Ruben Martinez, John L. Jefferies, Jeffrey A. Towbin, Rafael A Fonseca.
Affiliation ***
Introduction
Description of study
There has been growing awareness for genetic triggers that affect the cardiovascular system. In this poster presentation we provide a brief description of different conditions that encompass single-gene mutations associated with congenital and acquired cardiovascular disease.
Single gene disorders:
Williams
Noonan spectrum,
Alagille,
DMD
Long QTc, etc
Connective tissue disorders:
MFS,
LDS,
EDS, OI
Cardiomyopathies:
DCM,
HCM,
RCM,
ARVC,
LVNC.
Genomic Deletions/Duplications:
22q11 del
1p36 del
6p34 del
Mitochondrial mutations:
MELAS
Abstract
There has been more awareness of genetic triggers and associated cardiovascular disease. The genetic basis for heart and vascular conditions is heterogeneous and includes genomic disorders; de novo dominant and familial dominant mutations; autosomal recessive, X-linked, recurrent copy number variations; complex patterns of inheritance; and mitochondrial inheritance. There are more than 100 genes associated with congenital and/or progressive cardiac abnormalities, and the list is expanding at a rapid rate. These
recognized genes encode for ion channels, transcription factors, transduction pathways, mitochondrial proteins, enzymes involved in lysosomal activity, and some other functions that are well recognized to cause genomic disorders
with cardiovascular involvement. Advances in genetic analysis have had a significant impact on the current practice of cardiovascular medicine in both children and adults, providing a better understanding of the genetic etiologies for these disorders and assisting in defining clinical phenotypes, ongoing management, and offering potential insight into long-term prognosis. In this chapter we provide a description of different conditions that encompass single gene mutations associated with congenital and acquired cardiovascular disease.
References
Texas Pediatric Society Electronic Poster Contest
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