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Figure 1 (Trisomy 21 (down syndrome) 2022).

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Gene or Chromosome Change That Causes Disease State

- Some chromosomal abnormalities associated with congenital heart defects are trisomy 18 and 21 (Riley 2022).

- Trisomy 18 and 21 both have three copies of chromosomes instead of the typical set of two (Trisomy 18 - about the disease - genetic and rare diseases information center 2021). Even though both trisomies appear similar, they both occur in different chromosome numbers, and they are known by other names. For instance, trisomy 18 is called Edwards syndrome while trisomy 21 goes by Down syndrome.

Signs & Symptoms

- In trisomy 18 the signs and symptoms include the following: low birthweight, severe intellectual disability, small abnormally shaped head, small jaw and mouth, clenched fits with over lapping fingers, congenital heart defects, and various abnormalities of other organs (Trisomy 18 - about the disease - genetic and rare diseases information center 2021).

- In trisomy 21 the signs and symptoms include the following: flattened face, short neck, small head, poor muscle tone, short height, upward slanting eye lids, excessive flexibility, etc. (Down syndrome 2018). Also, pediatric heart specialists address that , "About 40-50% of babies diagnosed with trisomy 21 have heart defects" (Verma 2016).

Prevalence of the Disease State in Humans

- According to the Minnesota department of health, "Trisomy 18 occurs at a rate of 1 in 2000-6000 live births. It is... more common as the mother ages but can occur randomly to parents of any age. The majority of babies affected are girls" (Individual, Family Health 2019).

- The CDC states that, "Each year, about 6,000 babies are born with Down syndrome, which is about 1 in every 700 babies born... In other words, the prevalence of Down syndrome increases as the mother’s age increases," (CDC 2020).

How the Aberration Causes The Disease State

- Both trisomy 18 and 21 are caused by an error in cell division. So, when this abnormal cell division occurs during the development of sperm and egg cells, they fail to split apart (Down syndrome 2018) and leads to what's called nondisjunction (About down syndrome 2022).
- Additionally, some more aberrations in Trisomy 18 are triple shunts and multivalvular disease (NAGANUMA 1978).

Is It Treatable?

- There are currently no treatments or cures available for trisomy 18 which results in an extra chromosome in the individual (Trisomy 18 2021). Similarly, there is no cure for trisomy 21, but there are accessible treatment plans to help fix problems like vision, hearing loss, and learning problems for example (Faculty By Department, Find a Physician 2022).

References:
About down syndrome. Ndss.org. 2022 [accessed 2022 Sep 30]. https://ndss.org/about

CDC. Data and statistics on Down syndrome. Centers for Disease Control and Prevention. 2020 Dec 7 [accessed 2022 Sep 30]. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html

Down syndrome. Mayo Clinic. 2018 Mar 8 [accessed 2022 Sep 30]. https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977

Faculty By Department, Find a Physician. Down syndrome (trisomy 21) in children. Rochester.edu. 2022 [accessed 2022 Sep 30]. https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=p02356

Individual, Family Health. Trisomy 18 - Minnesota department of health. 2019 [accessed 2022 Sep 30]. https://www.health.state.mn.us/diseases/cy/trisomy18.html

NAGANUMA M. 1978. Chromosomal Aberrations and Congenital Heart Diseases : I. Congenital Heart Diseases : SYMPOSIUM ON GENE-ENVIRONMENT INTERACTION IN CARDIOVASCULAR DISEASES. Japanese Circulation Journal. 42(10):1124–1130. doi:10.1253/jcj.42.1124.

Riley L. Factors contributing to congenital heart disease. Cincinnatichildrens.org. 2022 [accessed 2022 Sep 30]. https://www.cincinnatichildrens.org/health/c/factors-chd

Trisomy 18 - about the disease - genetic and rare diseases information center. Nih.gov. 2021 [accessed 2022 Sep 30]. https://rarediseases.info.nih.gov/diseases/6321/trisomy-18

Trisomy 18. Cincinnatichildrens.org. 2021 [accessed 2022 Sep 30]. https://www.cincinnatichildrens.org/health/t/trisomy-18

Trisomy 21 (down syndrome). Prenatalscreeningontario.ca. 2022 Aug 31 [accessed 2022 Sep 30]. https://www.prenatalscreeningontario.ca/en/pso/about-prenatal-screening/trisomy-21-down-syndrome.aspx

Verma A. Down syndrome and congenital heart disease. Pediatricheartspecialists.com. 2016 Jan 27 [accessed 2022 Sep 30]. https://pediatricheartspecialists.com/heart-education/blog/55-down-syndrome-and-congenital-heart-disease

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Gene or Chromosome Change that Causes Disease State

- A mitochondrial gene disorder that plays a significant role in congenital heart defects is called cardiomyopathy (Abaci et al. 2015). Cardiomyopathy is a heart muscle disease that makes it more difficult to be able to pump blood to the rest of the body. A disease like this can lead to heart failure and can be acquired from another condition or can even be inherited from a parent (Cardiomyopathy 2022).

Signs & Symptoms

- Cardiomyopathy signs and symptoms include the following: rapid pounding heartbeats, chest discomfort or pressure, fatigue, swelling of the legs, ankles, or feet, bloating of abdomen due to fluid buildup, etc (Cardiomyopathy 2022).

Prevalence of the Disease State in Humans

- As reported by the CDC, "As many as 1 of 500 adults may have this condition. Males and females of all ages and races can have cardiomyopathy. Dilated cardiomyopathy is more common in blacks than in whites and in males than in females" (CDC 2020).

How The Aberration Causes the Disease State

- One major cause of cardiomyopathy are viral infections. However, it may also be caused by another disease or even the treatments that are used. For instance, things that are more present at birth like nutritional deficiencies, heart disease, uncontrollable heart rhythms, or even particular types of chemotherapy for cancer (Cardiomyopathy 2019).
- Additionally, some minor cardiac aberrations are valve dysplasia like bicuspid semilunar cusps, parachute A-V valve, thickning, deformity and insufficient differentiation of valve and of chordae tendinae and hypoplastic or immature papillary muscles (NAGANUMA 1978).

Is It Treatable?

- As of today, there is no cure for cardiomyopathy, but certain measures can be taken in order to slow the condition's progression (Cardiomyopathy 2021).

References:
Abaci N, Arıkan M, Tansel T, Sahin N, Cakiris A, Pacal F, Sırma Ekmekci S, Gök E, Üstek D. Mitochondrial mutations in patients with congenital heart defects by next generation sequencing technology. Cardiology in the young. 2015 [accessed 2022 Sep 30];25(4):705–711. https://pubmed.ncbi.nlm.nih.gov/24912974/. doi:10.1017/S1047951114000754

Arechiga WM. Human biology online lab / cardiomyopathy. Pbworks.com. 2018 [accessed 2022 Sep 30]. http://humanbiologylab.pbworks.com/w/page/120754257/Cardiomyopathy%3B%20by%20Wendy%20M%20Arechiga

Cardiomyopathy. Cleveland Clinic. 2021 [accessed 2022 Sep 30]. https://my.clevelandclinic.org/health/diseases/16841-cardiomyopathy

Cardiomyopathy. Hopkinsmedicine.org. 2019 Nov 19 [accessed 2022 Sep 30]. https://www.hopkinsmedicine.org/health/conditions-and-diseases/cardiomyopathy

Cardiomyopathy. Mayo Clinic. 2022 Apr 2 [accessed 2022 Sep 30]. https://www.mayoclinic.org/diseases-conditions/cardiomyopathy/symptoms-causes/syc-20370709

CDC. Cardiomyopathy. Centers for Disease Control and Prevention. 2020 Sep 3 [accessed 2022 Sep 30]. https://www.cdc.gov/heartdisease/cardiomyopathy.htm

NAGANUMA M. 1978. Chromosomal Aberrations and Congenital Heart Diseases : I. Congenital Heart Diseases : SYMPOSIUM ON GENE-ENVIRONMENT INTERACTION IN CARDIOVASCULAR DISEASES. Japanese Circulation Journal. 42(10):1124–1130. doi:10.1253/jcj.42.1124.

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Figure 3 (Welcome to Turner Syndrome Foundation 2017).

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Gene or Chromosome Change that Causes Disease State

- Turner syndrome is a genetic disorder that strictly affects females. Most youth that possess this disorder will also be born with a congenital heart disease (Congenital heart disease - Causes 2021).

Signs & Symptoms

- Turner syndrome can have many sages of symptoms depending on a individual's age. For instance, before an infant is born, they can have abnormal kidneys, heart abnormalities, and a large collections of fluid whereas during birth or at infancy, they can have cardiac defects, slowed growth, low set ears, etc. Then while in stages of childhood through adulthood, some symptoms are no growth spurts, infertility, early end to menstrual cycles not due to pregnancy, etc (Turner syndrome 2022).

Prevalence of the Disease State in Humans

- As stated by NORD, "Turner syndrome affects approximately 1 female in 2,000-2,500 live female births. It is estimated that more than 70,000 women and girls in the United States have Turner syndrome. There are no known racial or ethnic factors that influence frequency of the disorder" (Turner syndrome - NORD 2015).

How The Aberration Causes the Disease State

- Turner syndrome transpires when a part or all of an X chromosome is absent from most or all of the cells in a female's body. Typically its normal for a girl to receive one X chromosome from her mother and the other from her father, but an error can happen during the development in the egg or sperm (What causes Turner syndrome? 2021).
- Additionally, some more aberrations in Turner syndrome are shunts in delition syndrome and the coarctation of the aorta (NAGANUMA 1978).

Is It Treatable?

- Presently, there is no cure for Turner syndrome, but certain therapies have been refined in order to enhance the physical development of an individual (Turner syndrome - NORD 2015).

References:
Congenital heart disease - Causes. nhs.uk. 2021 [accessed 2022 Sep 30]. https://www.nhs.uk/conditions/congenital-heart-disease/causes/

NAGANUMA M. 1978. Chromosomal Aberrations and Congenital Heart Diseases : I. Congenital Heart Diseases : SYMPOSIUM ON GENE-ENVIRONMENT INTERACTION IN CARDIOVASCULAR DISEASES. Japanese Circulation Journal. 42(10):1124–1130. doi:10.1253/jcj.42.1124.

Turner syndrome. Mayo Clinic. 2022 Feb 11 [accessed 2022 Sep 30]. https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782

Turner syndrome - NORD (national organization for Rare disorders). NORD (National Organization for Rare Disorders). 2015 Feb 11 [accessed 2022 Sep 30]. https://rarediseases.org/rare-diseases/turner-syndrome/

Welcome to Turner Syndrome Foundation! Turner Syndrome Foundation. 2017 Jul 11 [accessed 2022 Sep 30]. https://turnersyndromefoundation.org

What causes Turner syndrome? https://www.nichd.nih.gov/. 2021 [accessed 2022 Sep 30]. https://www.nichd.nih.gov/health/topics/turner/conditioninfo/causes

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Gene or Chromosome Change That Causes Disease State

-  A chromosomal aberration that involves heart defects is called DiGeorge syndrome. DiGeorge syndrome is a multi-organ disorder that also goes by the name of 22q11.2 deletion syndrome (Du et al. 2020). This syndrome occurs when a small section of genetic material is absent from an individual's DNA, and it can cause a lot of lifelong problems like heart defects and learning complications (NHS Choices 2020).

Signs & Symptoms

-  DiGeorge syndrome has signs and symptoms that can vary depending on what body system is affected and how severe the defects are. Some common combinations of symptoms and signs are heart murmurs and blueish colored skin, recurrent infections, a gap in the roof of the mouth (cleft palate), underdeveloped facial features, learning disabilities, and delayed development of speech or growth. Most of these signs can be diagnosed at birth, but it is possible for them to emerge in later stages of childhood (Mayo Clinic 2017).

Prevalence of the Disease State in Humans

- According to the Nationwide Children's Hospital, "This syndrome occurs in approximately 1 out of every 4,000 live births...," and, "In approximately 1 in 10 families, the deletion is present because one of the parents has the same deletion and passes it on to their baby" (22q Deletion Syndrome 2022). As an outcome of this, parents who have a baby that is born with this particular syndrome should be encouraged to have a blood test done in order to discover what their odds are of having additional children with this same syndrome (22q Deletion Syndrome 2022).

How the Aberration Causes The Disease State

- The aberration in 22q11.2 deletion syndrome is caused by, "...a heterozygous microdeletion at position 11.2 (proximal) on the q arm of human chromosome 22 (hChr22)" (Motahari et al. 2019). DiGeorge syndrome is also related to cardiac malformations, thymic and parathyroid hypoplasia, and craniofacial defects. Patients with these conditions illustrate abnormalities in their cranium, cranial base, jaws, pharyngeal muscles, ear-nose-throat, palate, teeth, and cervical spine. These phenotypes are derived by proximal 1.5 Mb micro deletions which results in a hemizygosity of coding genes, microRNAs, and long noncoding RNAs (Funato 2022).

Is It Treatable?

-  Currently, there is no cure for DiGeorge syndrome (22q11.2 deletion syndrome), but there are a few treatments that can aid in altering serious issues like cleft palate or even heart defects for instance. Some of these treatments range from having surgery to receiving vaccines or even from speech, occupational, and developmental therapies. Additionally, mental health care along with calcium and vitamin D supplements may be used (Mayo Clinic 2017).

References:

Du Q, de la Morena MT, van Oers NSC. 2020. The Genetics and Epigenetics of 22q11.2 Deletion Syndrome. Frontiers in Genetics. 10:1365. doi:10.3389/fgene.2019.01365. [accessed
2022 Dec 13]. https://pubmed.ncbi.nlm.nih.gov/32117416/.

Funato N. 2022. Craniofacial Phenotypes and Genetics of DiGeorge Syndrome. Journal of Developmental Biology. 10(2):18. doi:10.3390/jdb10020018.

Mayo Clinic. 2017 Jul 18. DiGeorge syndrome (22q11.2 deletion syndrome) - Symptoms and causes. Mayo Clinic. [accessed 2022 Dec 13]. https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543.

Motahari Z, Moody SA, Maynard TM, LaMantia A-S. 2019. In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects? Journal of Neurodevelopmental Disorders. 11(1). doi:10.1186/s11689-019-9267-z.

‌NHS Choices. 2020 Apr 2. DiGeorge syndrome (22q11 deletion). NHS. [accessed 2022 Dec 13]. https://www.nhs.uk/conditions/digeorge-syndrome/.

22q Deletion Syndrome. 2022. wwwnationwidechildrensorg. [accessed 2022 Dec 13]. https://www.nationwidechildrens.org/conditions/22q-deletion-syndrome.

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- Trisomy 18 and 21, cardiomyopathy, DiGeorge syndrome, and Turner syndrome all have one thing is common. That one similar thing is known as a disease state called congenital heart defect. Each and every one of these diseases/syndromes all contain some sort of heart issue. Additionally, they all have no cure and can usually be diagnosed at birth.