TetralogyTetralogy of Fallotof Fallot

DefinitionDefinition

A congenital malformation of the heart A congenital malformation of the heart characterized by:characterized by:

A ventricular septal defect A ventricular septal defect pulmonary stenosispulmonary stenosis   overriding of the aortaoverriding of the aorta the right ventricle develops hypertrophythe right ventricle develops hypertrophy

Tetralogy of Fallot is one of the most Tetralogy of Fallot is one of the most common congenital heart disorders. common congenital heart disorders.

is classified as a cyanotic heart disorder is classified as a cyanotic heart disorder because the condition results in an because the condition results in an inadequate flow of oxygenated blood to inadequate flow of oxygenated blood to the systemic circulation.the systemic circulation.

Patients with TOF initially present with Patients with TOF initially present with cyanosis shortly after birth, thereby cyanosis shortly after birth, thereby attracting early medical attention.attracting early medical attention.

Cause/EtiologyCause/Etiology

The cause is unknown, although genetic The cause is unknown, although genetic studies suggest a multifactor etiology. studies suggest a multifactor etiology.

Signs and SymptomsSigns and Symptoms Cyanosis-bluish tint of skin, lips, and nail beds.Cyanosis-bluish tint of skin, lips, and nail beds. detectable heart murmursdetectable heart murmurs Activity such as crying may exacerbate the condition Activity such as crying may exacerbate the condition

and babies may have shortness of breath or may faint. and babies may have shortness of breath or may faint. Babies also may experience a "tetralogy spell" in which Babies also may experience a "tetralogy spell" in which oxygen levels drop suddenly leading to irritability and oxygen levels drop suddenly leading to irritability and then sleepiness or unresponsiveness.then sleepiness or unresponsiveness.

Rapid breathingRapid breathing Cool and clammy skinCool and clammy skin Poor gain weightPoor gain weight Most adults with tetralogy of Fallot have had surgery Most adults with tetralogy of Fallot have had surgery

during childhood. The adult with unrepaired tetralogy during childhood. The adult with unrepaired tetralogy usually has milder cyanosis and a heart murmur or usually has milder cyanosis and a heart murmur or extra heart sound.extra heart sound.

Risk factorsRisk factors

factors associated with a higher incidence of factors associated with a higher incidence of TOF include maternal rubella (or other viral TOF include maternal rubella (or other viral illnesses) during pregnancyillnesses) during pregnancy

poor prenatal nutritionpoor prenatal nutrition maternal alcohol use maternal alcohol use DiabetesDiabetes maternal age older than 40 years, Children maternal age older than 40 years, Children

with with Down syndrome have a higher incidence of TOF.

Diagnostic TestsDiagnostic Tests

Cardiac catheterizationCardiac catheterization

provides angiographic visualization of provides angiographic visualization of ventricular and pulmonary artery size. ventricular and pulmonary artery size. Catheterization also helps obtain pressure Catheterization also helps obtain pressure and oxygen saturation measurements in and oxygen saturation measurements in different chambers and identifies any different chambers and identifies any possible shunts. In the presence of possible shunts. In the presence of preexisting shunts, angiograms should be preexisting shunts, angiograms should be obtained before complete surgical repair.obtained before complete surgical repair.

Physical Examination

Electrocardiography Electrocardiography To diagnose certain cardiovascular diseasesTo diagnose certain cardiovascular diseases To evaluate heart murmursTo evaluate heart murmurs Electrocardiography is a transducer that emits Electrocardiography is a transducer that emits

and receives ultrasound waves is placed in and receives ultrasound waves is placed in four positions on the chest above the heart.four positions on the chest above the heart.

Nursing responsibilitiesNursing responsibilities Place patient in a supine position on left side Place patient in a supine position on left side

facing the equipmentfacing the equipment Instruct family and patient about the procedure Instruct family and patient about the procedure

and sensation.and sensation.

Magnetic resonance imaging (MRI) Magnetic resonance imaging (MRI) provides good delineation of the aorta, right provides good delineation of the aorta, right

ventricular outflow tract, VSDs, right ventricular outflow tract, VSDs, right ventricular hypertrophy, and the pulmonary ventricular hypertrophy, and the pulmonary artery and its branches. artery and its branches.

MRI can be used to measure intracardiac MRI can be used to measure intracardiac pressures, gradients, and blood flows. pressures, gradients, and blood flows.

Drawbacks to MRI include the need for Drawbacks to MRI include the need for prolonged imaging times and the prolonged imaging times and the requirement for sedation in small children requirement for sedation in small children to prevent motion artifacts. Additionally, to prevent motion artifacts. Additionally, sick infants cannot be observed when sick infants cannot be observed when enclosed in an MRI tunnel.enclosed in an MRI tunnel.

ManagementManagement

AnalgesicsAnalgesics These agents reduce ventilator drive. Pain These agents reduce ventilator drive. Pain

control ensures patient comfort and promotes control ensures patient comfort and promotes pulmonary toilet (attempts to clear mucus and pulmonary toilet (attempts to clear mucus and secretions from the trachea and bronchial tree secretions from the trachea and bronchial tree by deep breathing, incentive spiratomy, by deep breathing, incentive spiratomy, postural drainage, and percussion.)postural drainage, and percussion.)

Most analgesics have sedating properties, Most analgesics have sedating properties, which are beneficial for patients who are which are beneficial for patients who are having hypercyanotic episodeshaving hypercyanotic episodes

Morphin SulfateMorphin Sulfate (duramorph, (duramorph, astromorph, MS Contin)astromorph, MS Contin)

Drug of choice for narcotic analgesia Drug of choice for narcotic analgesia because of its reliable and predictable because of its reliable and predictable effects, safety profile, and easy of effects, safety profile, and easy of reversibility with naloxonereversibility with naloxone

Administered IV, may be dosed in number Administered IV, may be dosed in number of ways and commonly titrated until of ways and commonly titrated until desired effect obtained.desired effect obtained.

Metoprolol and Propranolol Metoprolol and Propranolol Classification: Classification: Beta-BlockersBeta-Blockers

Used to treat tremors, angina, HPN, heart Used to treat tremors, angina, HPN, heart rhythm disorders, and other heart or rhythm disorders, and other heart or circulatory conditions. It also used to treat circulatory conditions. It also used to treat or prevent heart attack, and reduce the or prevent heart attack, and reduce the severity of migraine and headaches.severity of migraine and headaches.

PhenylephrinePhenylephrineClassification- Classification- DecongestantDecongestant

Brand names: Ah-Chew D, Lusonal, Nasop, Neo-Brand names: Ah-Chew D, Lusonal, Nasop, Neo-SyneprineSyneprine

It works by constricting (shrinking ) blood vessels.It works by constricting (shrinking ) blood vessels.

Constriction of blood vessels in the sinuse, nose, Constriction of blood vessels in the sinuse, nose, and chest allows drainage of these areas, and chest allows drainage of these areas, which decreases congestion. Constriction of which decreases congestion. Constriction of blood vessels also affects blood pressureblood vessels also affects blood pressure

Surgical management

Types of surgery

Complete Intracardiac repair Complete surgical repair involves closure

of the VSD and relief of RVOTO A median sternotomy approach is used

with cardiopulmonary bypass Blalock-Taussig procedure

Temporary or Palliative Surgery

Creation of a systematic to pulmonary artery shunt can be performed from the midline by means of a sternotomy or thoracotomy

Nursing diagnosis

Impaired gas exchange related to ventilation perfusion imbalanced

Nursing interventions Discuss preventing exposure to cold,

dressing warmly

Nursing Dx. Ineffective tissue perfusion related to

impaired transport of oxygen across the alveolar and capillary membrane.

Nursing interventions Instruct the use of relaxation, stress

reduction technique as appropriate.

Nursing Dx Failure to thrive related to cardiac illness

Nursing interventions Health teaching providing an opportunity for

children and family to express fear about the child's illness and treatment plan

Providing physiologic and psychological support as comfort measures after surgery and caring for child in cardiac failure

Nursing Outcomes

PrognosisPrognosis

In the present era of cardiac surgery, children In the present era of cardiac surgery, children with simple forms of tetralogy of Fallot (TOF) with simple forms of tetralogy of Fallot (TOF) enjoy good long-term survival with an excellent enjoy good long-term survival with an excellent quality of life. Late outcome data suggest that quality of life. Late outcome data suggest that most survivors are in New York Heart most survivors are in New York Heart Association classification I, although maximal Association classification I, although maximal exercise capability is reduced in some. The exercise capability is reduced in some. The surgical procedures are still palliative, and surgical procedures are still palliative, and continued cardiac monitoring into adult life is continued cardiac monitoring into adult life is necessary.necessary.

ResearchResearchCirculation. Circulation. 2001Nov 20;104(21):2565-82001Nov 20;104(21):2565-8

NKX2.5 mutations in patients with tetralogy of fallotNKX2.5 mutations in patients with tetralogy of fallot

Goldmuntz E, Geiger E, Benson DW.Goldmuntz E, Geiger E, Benson DW.

Division in cardiology, the children’s hospital of Philadelphia, Philadelphia, PA, Division in cardiology, the children’s hospital of Philadelphia, Philadelphia, PA, USA.goldmuntz@email.chop.edu

Background:Recent reports have implicated mutations in the prescription factor NKX2.5 as a cause of tetralogy of Background:Recent reports have implicated mutations in the prescription factor NKX2.5 as a cause of tetralogy of fallot (TOF). To estimate the frequency of NKX2.5 mutations in TOF patients and to further investigate the fallot (TOF). To estimate the frequency of NKX2.5 mutations in TOF patients and to further investigate the genotype-phenotype correlation of NKZ2.5 mutations, we genotype 114 TOF patients.genotype-phenotype correlation of NKZ2.5 mutations, we genotype 114 TOF patients.

METHODS AND RESULTS:Patients were recruited prospectively (November 1992 through June 1999) and tested METHODS AND RESULTS:Patients were recruited prospectively (November 1992 through June 1999) and tested for for

22q11deletion; those with 22q11deletion or recognized chromosomal alteration were excluded from the present 22q11deletion; those with 22q11deletion or recognized chromosomal alteration were excluded from the present study. Patients were screened for NKX2.5 alterations by conformation-sensitive gel electrophoresis and study. Patients were screened for NKX2.5 alterations by conformation-sensitive gel electrophoresis and sequencing of fragments with aberrant mobility. Four heterozygous mutations were identified in 6 unrelated sequencing of fragments with aberrant mobility. Four heterozygous mutations were identified in 6 unrelated patients with cases of TOF, including 3 with pulmonary atresia and 5 with right aortic arch; none had ECG patients with cases of TOF, including 3 with pulmonary atresia and 5 with right aortic arch; none had ECG evidence of PR interval prolongation. Three of 4 mutations (Glu21GIn, Arg216Cys, and Ala219Val) altered evidence of PR interval prolongation. Three of 4 mutations (Glu21GIn, Arg216Cys, and Ala219Val) altered highly conserved amino acids, of which two mapped in the conserved NK2 domain. The fourth mutation highly conserved amino acids, of which two mapped in the conserved NK2 domain. The fourth mutation (Arg25Cys) was identified in 3 unrelated probands in the present study and has been previously reported. No. (Arg25Cys) was identified in 3 unrelated probands in the present study and has been previously reported. No. homeodomain mutations were identified.homeodomain mutations were identified.

CONCLUSIONS:NKX2.5 mutations are the first gene defects identified in nonsyndromic TOF patients. NKX2.5 CONCLUSIONS:NKX2.5 mutations are the first gene defects identified in nonsyndromic TOF patients. NKX2.5 mutation is present in >/=4% of TOF patients. Mutations were identified in the present study mapped outsideof mutation is present in >/=4% of TOF patients. Mutations were identified in the present study mapped outsideof the homeodomain, were not fully penetrate, in contrast to mutations previously reported that impair the homeodomain, were not fully penetrate, in contrast to mutations previously reported that impair homeodomain function.homeodomain function.

PMID: 11714651 [PubMed- indexed for MEDLINE]PMID: 11714651 [PubMed- indexed for MEDLINE]

ReferencesReferences

http://www.daviddarling.info/encyotra/T/tetralogy of fallot.html

http://www.ncbi.nlm.nih.gov/pubmed/and PMC2651859/

http://www.ncbi.nih.gov/11714651 http://wrong diagnosis.com/f/falllot diagnosis.com/f/falllot

syndrome/intro.htmlsyndrome/intro.html

Submitted By:Submitted By:

Charie May A. IliCharie May A. Ili

BSN3-2BSN3-2