HEART DISEASEVictor Martin, Stephen Adeoye, and Billy

WHAT IS HEART DISEASE?

Often referred to as Congenital Heart Disease (CHD) or cardiomyocyte hypertrophy

It is a disease that causes a defect in the heart and the vessels that surround it

Present at birth Usually Hereditary The most common ones come from the

obstruction of blood flow or the abnormal flow of blood in the heart

STATISTICS

Approximately 9 people in 1000 are born with CHD

Trisomy 21 is the most common genetic cause

Most of the time, CHD is serious and requires surgery and/or medication, such as diuretics

Congenital heart defects resulted in about 223,000 deaths globally in 2010 (it went down from 278,000 deaths in 1990 ;)

CELL SINALING PATHWAYS INVOLVED

The faulty pathway that's responsible for congenital heart is the Notch signaling pathway.

Although, the Planar Cell Polarity signaling pathway has had connections to the disease

CAUSES

Some environmental factors on the mother, such as drugs, like alcohol and certain illnesses, such as diabetes, will give an increased chance on the child having CHD.

One other factor is the weight of the parent. Studies show that obese parents have a greater chance of giving birth to a child with CH.

SYMPTOMS

May exhibit shortness of breath heart murmur (abnormal heartbeat

sounds) respiratory infections underdevelopment of the limbs Bluish tint to the skin

Severity of the symptoms all depends on the severity of the heart defect.

NOTCH SIGNALING PATHWAY

The notch protein spans the cell membrane

Ligands bind to the extracellular domain and triggers release of intracellular domain, which enters the nucleus and modifies gene expression.

If one cell expresses a given trait, this may be switched off in neighbor cells by the intercellular notch signal.

INCORRECT MECHANISM IN NSP Notch signal pathway plays a crucial

role in 3 cardiac development processes: Atrioventricular canal development myocardial development cardiac outflow tract (OFT) development

Mutations in the Notch signaling pathway have been associated with human congenital heart defects

PLANAR CELL POLARITY PATHWAY PCPP's role is to regulate the

cytoskeleton that is responsible for the shape of the cell

It is part of the WNT Signaling Pathways

The end result of the pathway is the actin modification

INCORRECT MECHANISM IN PCPP

The disruption of PCPP causes problems with cell to cell adhesion, thus leading to CHD

CURRENT DIRECTION OF RESEARCH Faculty members at the Nationwide Children’s

Hospital are working on a way to understand the genetic basis of congenital heart disease and are investigating how genetic and environmental factors play a role in the development of heart defects in children.

They have explored mouse models to understand how these defects develop.

These studies could enhance diagnosis and improve treatment and outcomes for patients congenital heart defects.

RESOURCES

http://www.nationwidechildrens.org/genetics-of-congenital-heart-disease-research

http://www.webmd.com/heart-disease/congenital-heart-disease

http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/AboutCongenitalHeartDefects/About-Congenital-Heart-Defects_UCM_001217_Article.jsp

http://www.webmd.com/heart-disease/features/breakthroughs-in-atherosclerosis-treatment