ATRIOVENTRICULAR SEPTAL DEFECT

INTRODUCTION

Atrioventricular-Septal-Defect-Picture
Atrioventricular-Septal-Defect-Picture

Congenital heart diseases affect about 8 to 10 children per 1000 live births and it is estimated the occurrence of 28,846 new cases per year in Brazil, where, on average, 23,077 surgical procedures are needed per year .

The most common congenital heart diseases in the study of Miyague et al. were acyanotic anomalies such as ventricular septal defect (30.5%), atrial septal defect (19.1%), patent ductus arteriosus (17% ), pulmonary valve stenosis (11.3%) and aortic coarctation (6.3%), while the most common cyanotic anomalies were tetralogy of Fallot (6.9%), transposition of great vessels (4.1%), tricuspid atresia (2.3%) and total anomalous pulmonary veins drainage (2%).

Children with congenital heart disease often develop changes in respiratory mechanics . In addition, heart surgery associated with cardiopulmonary bypass (CPB) also leads to a number of respiratory complications . Thus, physiotherapy in pre- and postoperative period have as main objectives the pulmonary reexpansion, airway clearance and guidance for those responsible concerning prevention of these complications .

This review aimed to update knowledge regarding the role of physiotherapy in the preoperative and postoperative pediatric cardiac surgery in the prevention of pulmonary complications.

An atrioventricular septal defect (pronounced EY-tree-oh-ven-TRIC-u-lar SEP-tal DEE-fekt) or AVSD is a heart defect affecting the valves between the heart’s upper and lower chambers and the walls between the chambers.

DEFINATION
An atrioventricular septal defect (AVSD) is a heart defect in which there are holes between the chambers of the right and left sides of the heart, and the valves that control the flow of blood between these chambers may not be formed correctly. This condition is also called atrioventricular canal (AV canal) defect or endocardial cushion defect. In AVSD, blood flows where it normally should not go. The blood may also have a lower than normal amount of oxygen, and extra blood can flow to the lungs. This extra blood being pumped into the lungs forces the heart and lungs to work hard and may lead to congestive heart failure.

There are two general types of AVSD that can occur, depending on which structures are not formed correctly:

COMPLETE AVSD

Complete-AV-Canal-Defect-Patient-Zeyd-Bastas1
Complete-AV-Canal-Defect

A complete AVSD occurs when there is a large hole in the center of the heart which allows blood to flow between all four chambers of the heart. This hole occurs where the septa (walls) separating the two top chambers (atria) and two bottom chambers (ventricles) normally meet. There is also one common atrioventricular valve in the center of the heart instead of two separate valves – the tricuspid valve on the right side of the heart and the mitral valve on the left side of the heart. This common valve often has leaflets (flaps) that may not be formed correctly or do not close tightly. A complete AVSD arises during pregnancy when the common valve fails to separate into the two distinct valves (tricuspid and mitral valves) and when the septa (walls) that split the upper and lower chambers of the heart do not grow all the way to meet in the center of the heart.

PATRIAL OR INCOMPLETE AVSD
A partial or incomplete AVSD occurs when the heart has some, but not all of the defects of a complete AVSD. There is usually a hole in the atrial wall or in the ventricular wall near the center of the heart. A partial AVSD usually has both mitral and tricuspid valves, but one of the valves (usually mitral) may not close completely, allowing blood to leak backward from the left ventricle into the left atrium.

OCCURENCE
The Centers for Disease Control and Prevention (CDC) estimates that about 2,000 babies (1 in 2,120 babies) are born with AVSD every year in the United States.

CAUSES AND RISK FACTORS
The causes of congenital heart defects, such as AVSD, among most babies are unknown. Some babies have heart defects because of changes in their genes or chromosomes. In particular, AVSD is common in babies with Down syndrome, a genetic condition that involves an extra chromosome 21 (also called trisomy 21). Congenital heart defects are also thought to be caused by the combination of genes and other risk factors, such as things the mother comes in contact with in her environment, what she eats or drinks, or certain medications she uses during pregnancy.

DIAGNOSIS
AVSD may be diagnosed during pregnancy or soon after the baby is born.

DURING PREGNANCY
During pregnancy, there are screening tests (also called prenatal tests) to check for birth defects and other conditions. AVSD may be diagnosed during pregnancy with an ultrasound test (which creates pictures of the baby using sound waves), but whether or not the defect can be seen with the ultrasound test depends on the size or type (partial or complete) of the AVSD. The healthcare provider can request a fetal echocardiogram to confirm the diagnosis if AVSD is suspected. A fetal echocardiogram is an ultrasound of the baby’s heart which shows more detail than the routine prenatal ultrasound test. The fetal echocardiogram can show problems with the structure of the heart and how well the heart is working.

AFTER BABY IS BORN
During a physical exam of an infant, a complete AVSD may be suspected. Using a stethoscope, a doctor will often hear a heart murmur (an abnormal “whooshing” sound caused by blood flowing through the abnormal hole). However, not all heart murmurs are present at birth. Babies with a complete AVSD usually do show signs of problems within the first few weeks after birth. When symptoms do occur, they may include

  • Breathing problems
  • Pounding heart
  • Weak pulse
  • Ashen or bluish skin color
  • Poor feeding, slow weight gain
  • Tiring easily
  • Swelling of the legs or belly
  • For partial AVSDs, if the holes between the chambers of the heart are not large, the signs and
  • symptoms may not occur in the newborn or infancy periods. In these cases, people with a partial
  • AVSD might not be diagnosed for years.

Symptoms which might indicate that a child’s complete AVSD or partial AVSD is getting worse include

Arrhythmia, an abnormal heart rhythm. An arrhythmia can cause the heart to beat too fast, too slow, or erratically. When the heart does not beat properly, it can’t pump blood effectively.
Congestive heart failure, when the heart cannot pump enough blood and oxygen to meet the needs of the body.
Pulmonary hypertension, a type of high blood pressure that affects the arteries in the lungs and the right side of the heart.
The healthcare provider can request one or more tests to confirm the diagnosis of AVSD. The most common test is an echocardiogram. This is an ultrasound of the heart that can show problems with the structure of the heart, like holes between the chambers of the right and left side of the heart, and any irregular blood flow. An electrocardiogram (EKG), which measures the electrical activity of the heart, chest x-rays, and other medical tests may also be used to make the diagnosis. Because many babies with Down syndrome have an AVSD, all infants with Down syndrome should have an echocardiogram to look for an AVSD or other heart defects.

TREATMENT
All AVSDs, both partial and complete types, usually require surgery. During surgery, any holes in the chambers are closed using patches. If the mitral valve does not close completely, it is repaired or replaced. For a complete AVSD, the common valve is separated into two distinct valves – one on the right side and one on the left side.

The age at which surgery is done depends on the child’s health and the specific structure of the AVSD. If possible, surgery should be done before there is permanent damage to the lungs from too much blood being pumped to the lungs. Medication may be used to treat congestive heart failure, but it is only a short term measure until the infant is strong enough for surgery.

Infants who have surgical repairs for AVSD are not cured; they might have lifelong complications. The most common of these complications is a leaky mitral valve. This is when the mitral valve does not close all the way so that it allows blood to flow backwards through the valve. A leaky mitral valve can cause the heart to work harder to get enough blood to the rest of the body; a leaky mitral valve might have to be surgically repaired. A child or adult with an AVSD will need regular follow-up visits with a cardiologist (a heart doctor) to monitor his or her progress, avoid complications, and check for other health conditions that might develop as the child gets older. With proper treatment, most babies with AVSD grow up to lead healthy, productive lives.

PULMONARY COMPLICATIONS IN PEDIATRIC CARDIAC SURGERY

Pulmonary complications of postoperative pediatric cardiac surgery observed : atelectasis, pneumonia, pleural effusion, pneumothorax, chylothorax, pulmonary hypertension, pulmonary hemorrhage and diaphragmatic paralysis, whereas the first two aforementioned complications are the more common ones.

Atelectasis, defined as collapse of a certain region of the lung parenchyma . is the most common complication in the postoperative period of cardiac surgery , by worsening oxygenation, decreasing pulmonary compliance, leading to inhibition of cough and pulmonary clearance and may lead to respiratory failure and increase pulmonary vascular resistance.

Heart surgeries associated with CPB have as adverse effect the increased capillary permeability that causes edema, which results in decreased lung compliance and gas exchange , in addition to lead to airway obstruction, atelectasis, decreased functional residual capacity and, therefore, hypoxemia .

Stayer et al. assessed the changes in resistance and dynamic pulmonary compliance in 106 children aged less than one year, with congenital heart disease who underwent cardiac surgery with CPB. These variables were measured on two occasions: before the surgical incision with ten minutes of mechanical ventilation and after disconnection of CPB and sternal closure. The authors found that newborns and patients with increased pulmonary blood flow presented preoperatively decreased lung compliance and increased respiratory resistance, whereas after surgery the latter parameter has improved. On the other hand, the infants with normal pulmonary blood flow in the preoperative had decreased lung compliance and developed in the postoperative deterioration of dynamic compliance, however, the pulmonary resistance was not affected. This study showed that heart surgery can alter the respiratory mechanics in newborns and infants.

Among the most common causes of death it can be highlighted the low cardiac output syndrome (48%), followed by lung infections (11%).

Pneumonia is one of the frequent causes of nosocomial infection in the postoperative period of heart surgery and is considered a major cause of morbidity and mortality in this population . .

PHYSIOTHERAPYPHYSIOTHERAPY IN PRE- AND POSTOPERATIVE PERIOD

Physiotherapy in the pre- and postoperative period is indicated in pediatric cardiac surgery in order to reduce the risk of pulmonary complications (retention of secretions, atelectasis and pneumonia)  as well as to treat such complications as it contributes to the appropriate ventilation and successful extubation .

In the preoperative, physiotherapy uses techniques of clearance, reexpansion, abdominal support and guidance on the importance and objectives of physiotherapy intervention for parents or escorts, or patients able to understand such guidance . The techniques used by postoperative physiotherapy include vibration in the chest wall, percussion , compression , manual hyperinflation , reexpansion maneuver , positioning. postural drainage , cough stimulation , aspiration , breathing exercises , mobilization and AEF (acceleration of expiratory flow) .

There are few current studies on the role of physiotherapy in the postoperative of pediatric cardiac surgery , especially those that approach the effectiveness of physiotherapy in the preoperative to prevent pulmonary complications after heart surgery.

Felcar et al. performed a study with 141 children with congenital heart disease, aged varying between one day old to six years, randomly divided into two groups, whereas one of them received physiotherapy in the pre- and postoperative and the other only postoperatively. The study obtained statistically significant difference regarding the presence of pulmonary complications (pneumonia and atelectasis), being more frequent in the group undergoing physiotherapy only postoperatively. Moreover, when the presence of pulmonary complications was associated with other complications regarding the time of hospital stay, such as sepsis, pneumothorax, pleural effusion and others, the group that received physiotherapy before and after surgery showed a lower risk of developing such complications. These findings demonstrate the importance of preventive action of physiotherapy preoperatively.

According to Kavanagh , the treatment for atelectasis consists of physiotherapy, deep breathing, incentive spirometry. However, sometimes, atelectasis is difficult to reverse and it is necessary association with another method, as in the case report from Silva et al. [16], in which a child with congenital heart disease underwent heart surgery and developed this pulmonary complication after extubation in the postoperative period and the reversal of this presentation was achieved after the association of respiratory physiotherapy with inhalation of hypertonic saline solution with NaCl at 6%.

Chest radiographs and four physiotherapy sessions lasting 20 minutes were performed daily in this study, using maneuvers of pulmonary reexpansion and bronchial hygiene, bronchial postural drainage and tracheal aspiration. Immediately before and after physiotherapy inhalation of hypertonic saline solution with NaCl at 6% was associated. The authors found that this association was shown to be effective in this case .

Breathing exercises are indicated in cases of atelectasis due to thoracic or upper abdominal surgery, because they improve the respiratory efficiency, increase the diameter of the airways, which helps to dislodge secretions, preventing alveolar collapse, and facilitating the expansion of the lung and peripheral airways clerance .

Campos et al. analyzed the effect of increased expiratory flow (IEF) in heart rate, respiratory rate and oxygen saturation in 48 children diagnosed with pneumonia. The variables were assessed before physiotherapy, in the first and fifth minutes after physiotherapy. The authors found a statistically significant increase in oxygen saturation and statistically significant reduction in cardiac and respiratory rate after intervention with IEF and concluded that this physiotherapeutic technique for bronchial hygiene is effective in improving lung function.

FINAL CONSIDERATIONS

The occurrence of pulmonary complications in the postoperative of heart surgery is quite common, and the atelectasis and pneumonia are highlighted among them. Since the frequency of heart surgery in children with congenital heart disease is high, it is important to make use of effective means to prevent, reduce or treat such complications.

Physiotherapy included in the multidisciplinary team contributes significantly to the better prognosis of pediatric patients undergoing heart surgery, as it prevents and treats pulmonary complications by means of specific techniques such as vibration, percussion, compression, manual hyperinflation, reexpansion maneuver, positioning, postural drainage, cough stimulation, aspiration, breathing exercises, IEF and mobilization.

It was observed the effectiveness of physiotherapy in reducing the risk and/or treating pulmonary complications caused by surgical procedure in children with congenital heart disease. Thus, more research is needed to assess the physiotherapy in the pre- and postoperative of pediatric cardiac surgery, by comparing the different techniques used by the physiotherapist in order to minimize the frequent postoperative pulmonary complications.

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VENTRICULAR SEPTAL DEFECT

ventricular septal defect (VSD), a hole in the heart, is a common heart defect that’s present at birth (congenital). The hole (defect) occurs in the wall (septum) that separates the heart’s lower chambers (ventricles) and allows blood to pass from the left to the right side of the heart. The oxygen-rich blood then gets pumped back to the lungs instead of out to the body, causing the heart to work harder.

A small ventricular septal defect may cause no problems, and many small VSDs close on their own. Medium or larger VSDs may need surgical repair early in life to prevent complications.

 

VENTRICULAR SEPTAL DEFECT
VENTRICULAR SEPTAL DEFECT

SYMPTOMS
Signs and symptoms of serious heart defects often appear during the first few days, weeks or months of a child’s life.

Ventricular septal defect (VSD) symptoms in a baby may include:

  • Poor eating, failure to thrive
  • Fast breathing or breathlessness
  • Easy tiring

Doctor may not notice signs of a ventricular septal defect at birth. If the defect is small, symptoms may not appear until later in childhood — if at all. Signs and symptoms vary depending on the size of the hole and other associated heart defects.

Doctor may first suspect a heart defect during a regular checkup if he or she hears a murmur while listening to your baby’s heart with a stethoscope. Sometimes VSDs can be detected by ultrasound before the baby is born.

Sometimes a VSD isn’t detected until a person reaches adulthood. Symptoms and signs can include shortness of breath or a heart murmur doctor hears when listening to your heart with a stethoscope.

Call doctor if your baby or child:

Tires easily when eating or playing
Is not gaining weight
Becomes breathless when eating or crying
Breathes rapidly or is short of breath

Call doctor if you develop:

Shortness of breath when you exert yourself or when you lie down
Rapid or irregular heartbeat
Fatigue or weakness

CAUSES
Congenital heart defects arise from problems early in the heart’s development, but there’s often no clear cause. Genetics and environmental factors may play a role. VSDs can occur alone or with other congenital heart defects.

During fetal development, a ventricular septal defect occurs when the muscular wall separating the heart into left and right sides (septum) fails to form fully between the lower chambers of the heart (ventricles).

Normally, the right side of the heart pumps blood to the lungs to get oxygen; the left side pumps the oxygen-rich blood to the rest of the body. A VSD allows oxygenated blood to mix with deoxygenated blood, causing the heart to work harder to provide enough oxygen to the body’s tissues.

VSDs may be various sizes, and they can be present in several locations in the wall between the ventricles. There may be one or more VSD.

It’s also possible to acquire a VSD later in life, usually after a heart attack or as a complication following certain heart procedures.

RISK FACTORSRISK FACTORS
Ventricular septal defects may run in families and sometimes may occur with other genetic problems, such as Down syndrome. If you already have a child with a heart defect, a genetic counselor can discuss the risk of your next child having one.

COMPLICATION
A small ventricular septal defect may never cause any problems. Medium or large defects can cause a range of disabilities — from mild to life-threatening. Treatment can prevent many complications.
Heart failure. In a heart with a medium or large VSD, the heart needs to work harder to pump enough blood to the body. Because of this, heart failure can develop if medium to large VSDs aren’t treated.
Pulmonary hypertension. Increased blood flow to the lungs due to the VSD causes high blood pressure in the lung arteries (pulmonary hypertension), which can permanently damage them. This complication can cause reversal of blood flow through the hole (Eisenmenger syndrome).
Endocarditis. This heart infection is an uncommon complication.
Other heart problems. These include abnormal heart rhythms and valve problems.

PREVENTION
In most cases, you can’t do anything to prevent having a baby with a ventricular septal defect. However, it’s important to do everything possible to have a healthy pregnancy. Here are the basics:

Get early prenatal care, even before you’re pregnant. Talk to your doctor before you get pregnant about your health and discuss any lifestyle changes that your doctor may recommend for a healthy pregnancy. Also, be sure you talk to your doctor about any medications you’re taking.
Eat a balanced diet. Include a vitamin supplement that contains folic acid. Also, limit caffeine.
Exercise regularly. Work with your doctor to develop an exercise plan that’s right for you.
Avoid risks. These include harmful substances such as alcohol, tobacco and illegal drugs.
Avoid infections. Be sure you’re up to date on all of your vaccinations before becoming pregnant. Certain types of infections can be harmful to a developing fetus.
Keep diabetes under control. If you have diabetes, work with your doctor to be sure it’s well-controlled before getting pregnant.

If you have a family history of heart defects or other genetic disorders, consider talking with a genetic counselor before getting pregnant.

ATRIAL SEPTAL DEFECT

OVERVIEW

An atrial septal defect (ASD) is a hole in the wall between the two upper chambers of your heart (atria). The condition is present at birth (congenital).

Small defects may never cause a problem and may be found incidentally. It’s also possible that small atrial septal defects may close on their own during infancy or early childhood.

Large and long-standing atrial septal defects can damage your heart and lungs. An adult who has had an undetected atrial septal defect for decades may have a shortened life span from heart failure or high blood pressure that affects the arteries in the lungs (pulmonary hypertension). Surgery may be necessary to repair atrial septal defects to prevent complications.

SYMPTOMS
Many babies born with atrial septal defects don’t have associated signs or symptoms. In adults, signs or symptoms may begin around age 30, but in some cases signs and symptoms may not occur until decades later.

Atrial septal defect signs and symptoms may include:

Shortness of breath, especially when exercising
Fatigue
Swelling of legs, feet or abdomen
Heart palpitations or skipped beats
Stroke
Heart murmur, a whooshing sound that can be heard through a stethoscope

Shortness of breath
Tiring easily, especially after activity
Swelling of legs, feet or abdomen
Heart palpitations or skipped beats
These could be signs or symptoms of heart failure or another complication of congenital heart disease.

CAUSES
How the heart normally works

The heart is divided into four hollow chambers, two on the right and two on the left. To pump blood throughout the body, the heart uses its left and right sides for different tasks.

The right side of the heart moves blood to the lungs through vessels called pulmonary arteries. In the lungs, blood picks up oxygen then returns to the heart’s left side through the pulmonary veins. The left side of the heart then pumps the blood through the aorta and out to the rest of the body.

DEVELOPMENT OF HEART DEFECT
Doctors know that heart defects present at birth (congenital) arise from errors early in the heart’s development, but there’s often no clear cause. Genetics and environmental factors may play a role.
ATRIAL SEPTUM DEFECT
The heart is divided into four hollow chambers, two on the right and two on the left. To pump blood throughout the body, the heart uses its left and right sides for different tasks.

The right side of the heart moves blood to the lungs through vessels called pulmonary arteries. In the lungs, blood picks up oxygen then returns to the heart’s left side through the pulmonary veins. The left side of the heart then pumps the blood through the aorta and out to the rest of the body.

DEELOPMENT OF ASD
Doctors know that heart defects present at birth (congenital) arise from errors early in the heart’s development, but there’s often no clear cause. Genetics and environmental factors may play a role.

HEART WORKS WITH ASD
An atrial septal defect (ASD) allows freshly oxygenated blood to flow from the left upper chamber of the heart (left atrium) into the right upper chamber of the heart (right atrium). There, it mixes with deoxygenated blood and is pumped to the lungs, even though it’s already refreshed with oxygen.

If the atrial septal defect is large, this extra blood volume can overfill the lungs and overwork the right side of the heart. If not treated, the right side of the heart eventually enlarges and weakens. If this process continues, the blood pressure in your lungs may increase as well, leading to pulmonary hypertension.

TYPES OF ASD
SECUNDUM– This is the most common type of ASD, and occurs in the middle of the wall between the atria (atrial septum).
PRIMUM– This defect occurs in the lower part of the atrial septum, and may occur with other congenital heart problems.
SINUS VENOSUS- This rare defect usually occurs in the upper part of the atrial septum.
CORONARY SINUS- In this rare defect, part of the wall between the coronary sinus — which is part of the vein system of the heart — and the left atrium is missing.

RISK FACTORS
It’s not known why atrial septal defects occur, but congenital heart defects appear to run in families and sometimes occur with other genetic problems, such as Down syndrome. If you have a heart defect, or you have a child with a heart defect, a genetic counselor can estimate the odds that any future children will have one.

Some conditions that you have or that occur during pregnancy may increase your risk of having a baby with a heart defect, including:

  • RUBELLA INFECTION – bcoming infected with rubella (German measles) during the first few months of your pregnancy can increase the risk of fetal heart defects.
  • Drug, tobacco or alcohol use, or exposure to certain substances. Use of certain medications, tobacco, alcohol or drugs, such as cocaine, during pregnancy can harm the developing fetus.
  • Diabetes or lupus. If you have diabetes or lupus, you may be more likely to have a baby with a heart defect.
  • Obesity. Being extremely overweight (obese) may play a role in increasing the risk of having a baby with a birth defect.
  • Phenylketonuria (PKU). If you have PKU and aren’t following your PKU meal plan, you may be more likely to have a baby with a heart defect.
  • COMPLICATIONS
    A small atrial septal defect may never cause any problems. Small atrial septal defects often close during infancy.

Larger defects can cause serious problems, including:

  • Right-sided heart failure
  • Heart rhythm abnormalities (arrhythmias)
  • Increased risk of a stroke
  • Shortened life span
  • Less common serious complications may include:
  • Pulmonary hypertension. If a large atrial septal defect goes untreated, increased blood flow to your lungs increases the blood pressure in the lung arteries (pulmonary hypertension).

Eisenmenger syndrome. Pulmonary hypertension can cause permanent lung damage. This complication, called Eisenmenger syndrome, usually develops over many years and occurs uncommonly in people with large atrial septal defects.
Treatment can prevent or help manage many of these complications.

ATRIAL SEPTAL DEFECT ATRIAL SEPTAL DEFECT AND PREGNANCY
Most women with an atrial septal defect can tolerate pregnancy without any problems. However, having a larger defect or having complications such as heart failure, arrhythmias or pulmonary hypertension can increase your risk of complications during pregnancy. Doctors strongly advise women with Eisenmenger syndrome not to become pregnant because it can endanger their lives.

The risk of congenital heart disease is higher for children of parents with congenital heart disease, whether in the father or the mother. Anyone with a congenital heart defect, repaired or not, who is considering starting a family should carefully discuss it beforehand with a doctor. Some medications may need to be stopped or adjusted before you become pregnant because they can cause serious problems for a developing fetus.

PREVENTION
In most cases, atrial septal defects can’t be prevented. If you’re planning to become pregnant, schedule a preconception visit with your health care provider. This visit should include:

Getting tested for immunity to rubella. If you’re not immune, ask your doctor about getting vaccinated.
Going over your current health conditions and medications. You’ll need to carefully monitor certain health problems during pregnancy. Doctor may also recommend adjusting or stopping certain medications before you become pregnant.
Reviewing your family medical history. If you have a family history of heart defects or other genetic disorders, consider talking with a genetic counselor to determine what the risk might be before getting pregnant.

CARDIOMYOPATHY

INTRODUCTION

Cardiomyopathy is a disease of the heart muscle that makes it harder for your heart to pump blood to the rest of your body. Cardiomyopathy can lead to heart failure.

The main types of cardiomyopathy include dilated, hypertrophic and restrictive cardiomyopathy. Treatment — which might include medications, surgically implanted devices or, in severe cases, a heart transplant — depends on which type of cardiomyopathy you have and how serious it is.

SYMPTOMS
There might be no signs or symptoms in the early stages of cardiomyopathy. But as the condition advances, signs and symptoms usually appear, including:

Breathlessness with exertion or even at rest
Swelling of the legs, ankles and feet
Bloating of the abdomen due to fluid buildup
Cough while lying down
Fatigue
Heartbeats that feel rapid, pounding or fluttering
Chest discomfort or pressure
Dizziness, lightheadedness and fainting

Signs and symptoms tend to get worse unless treated. In some people, the condition worsens quickly; in others, it might not worsen for a long time.

CAUSES
Often the cause of the cardiomyopathy is unknown. In some people, however, it’s the result of another condition (acquired) or passed on from a parent (inherited).

Contributing factors for acquired cardiomyopathy include:

  • Long-term high blood pressure
  • Heart tissue damage from a heart attack
  • Chronic rapid heart rate
  • Heart valve problems
  • Metabolic disorders, such as obesity, thyroid disease or diabetes
  • Nutritional deficiencies of essential vitamins or minerals, such as thiamin (vitamin B-1)
  • Pregnancy complications
  • Drinking too much alcohol over many years
  • Use of cocaine, amphetamines or anabolic steroids
  • Use of some chemotherapy drugs and radiation to treat cancer
  • Certain infections, especially those that inflame the heart
  • Iron buildup in your heart muscle (hemochromatosis)
  • A condition that causes inflammation and can cause lumps of cells to grow in the heart and other organs (sarcoidosis)
  • A disorder that causes the buildup of abnormal proteins (amyloidosis)
    Connective tissue disorders

Illustration showing dilated cardiomyopathy
Dilated cardiomyopathy

Illustration showing hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy

TYPES OF CARDIOMYOPATHY

TYPES CARDIOMYOPATHY
TYPES OF CARDIOMYOPATHY

DILATED CARDIOMYOPATHY– In this type of cardiomyopathy, the pumping ability of your heart’s main pumping chamber — the left ventricle — becomes enlarged (dilated) and can’t effectively pump blood out of the heart.

Although this type can affect people of all ages, it occurs most often in middle-aged people and is more likely to affect men. The most common cause is coronary artery disease or heart attack.

HYPERTROPHIC CARDIOMYOPATHY – This type involves abnormal thickening of your heart muscle, particularly affecting the muscle of your heart’s main pumping chamber (left ventricle). The thickened heart muscle can make it harder for the heart to work properly.

Hypertrophic cardiomyopathy can develop at any age, but the condition tends to be more severe if it becomes apparent during childhood. Most affected people have a family history of the disease, and some genetic mutations have been linked to hypertrophic cardiomyopathy.

RESTRICTIVE CARDIOMYOPATHY- In this type, the heart muscle becomes rigid and less elastic, so it can’t expand and fill with blood between heartbeats. This least common type of cardiomyopathy can occur at any age, but it most often affects older people.

Restrictive cardiomyopathy can occur for no known reason (idiopathic), or it can by caused by a disease elsewhere in the body that affects the heart, such as when iron builds up in the heart muscle (hemochromatosis).

ARRHYTHMOGENIC RIGHT VENTRICULAR  DYSPLASIA- In this rare type of cardiomyopathy, the muscle in the lower right heart chamber (right ventricle) is replaced by scar tissue, which can lead to heart rhythm problems. It’s often caused by genetic mutations.

Unclassified cardiomyopathy. Other types of cardiomyopathy fall into this category.

RISK FACTORS

There are a number of factors that can increase your risk of cardiomyopathy, including:

  • Family history of cardiomyopathy, heart failure and sudden cardiac arrest
  • Long-term high blood pressure
  • Conditions that affect the heart, including a past heart attack, coronary artery disease or an
  • infection in the heart (ischemic cardiomyopathy)
  • Obesity, which makes the heart work harder
  • Long-term alcohol abuse
  • Illicit drug use, such as cocaine, amphetamines and anabolic steroids
  • Certain chemotherapy drugs and radiation therapy for cancer
  • Certain diseases, such as diabetes, an under- or overactive thyroid gland, or a disorder that causes the body to store excess iron (hemochromatosis)
  • Other conditions that affect the heart, such as a disorder that causes the buildup of abnormal proteins (amyloidosis), a disease that causes inflammation and can cause lumps of cells to grow in the heart and other organs (sarcoidosis), or connective tissue disorders

COMPLICATIONS

Cardiomyopathy can lead to other heart conditions, including:

Heart failure. Your heart can’t pump enough blood to meet your body’s needs. Untreated, heart failure can be life-threatening.
Blood clots. Because your heart can’t pump effectively, blood clots might form in your heart. If clots enter your bloodstream, they can block the blood flow to other organs, including your heart and brain.
Valve problems. Because cardiomyopathy causes the heart to enlarge, the heart valves might not close properly. This can lead to a backward flow of blood.
Cardiac arrest and sudden death. Cardiomyopathy can lead to abnormal heart rhythms. These abnormal heart rhythms can result in fainting or, in some cases, sudden death if your heart stops beating effectively.

PREVENTIONPREVENTION

In many cases, you can’t prevent cardiomyopathy. Let your doctor know if you have a family history of the condition.

You can help reduce your chance of cardiomyopathy and other types of heart disease by living a heart-healthy lifestyle and making lifestyle choices such as:

  • Avoiding the use of alcohol or cocaine
  • Controlling high blood pressure, high cholesterol and diabetes
  • Eating a healthy diet
  • Getting regular exercise
  • Getting enough sleep
  • Reducing your stress

ACYANOTIC CONGENITAL HEART DISEASE

Acyanotic heart defects are congenital cardiac malformations that affect the atrial or ventricular walls, heart valves, or large blood vessels. Common causes include genetic defects (e.g., trisomies), maternal infections (e.g., rubella), or maternal consumption of drugs or alcohol during pregnancy. Acyanotic heart defects are characterized pathophysiologically by a left-to-right shunt, which causes pulmonary hypertension and right heart hypertrophy.

The symptoms depend on the extent of the malformation and the resulting impairment of cardiac function. Infants may be asymptomatic or present with exercise intolerance, failure to thrive, and symptoms of heart failure. Characteristic heart murmurs are important clues for establishing the diagnosis, which is typically confirmed by visualizing the defect on echocardiography.

A chest x-ray, MRI, or cardiac catheterization may also be required to determine the indications for surgery and plan the procedure. Acyanotic heart defects requiring treatment are repaired via catheter procedures or surgery. Supportive medical therapy is needed in cases of heart failure (e.g., diuretics, inotropic agents) or if surgery cannot be performed (e.g., prostaglandin). Common complications include arrhythmias, embolisms, and infective endocarditis, especially if treatment is delayed.

Overview of acyanotic congenital heart defects

  • General clinical features
  • Normal skin tone
  • Exercise intolerance
  • Fatigue
  • Exertional tachycardia, pallor, and diaphoresis (sweating)
  • Exertional dyspnea, tachypnea
  • Recurrent bronchopulmonary infections
  • Failure to thrive
  • Heart failure in larger defects
  • Tachycardia
  • Right-sided heart failure
  • Hepatic venous congestion with hepatomegaly
  • Peripheral edema is rarely seen in infants.
  • Left-sided heart failure
  • Tachypnea, pulmonary edema
  • Low cardiac output: BP, pallor, sweating, cool extremities, poor growth, syncope
    Differential cyanosis: cyanosis in the lower extremities when the Eisenmenger reaction occurs

ATRIAL SEPTAL DEFECT (ASD)

atrial septal defect
                  atrial septal defect

EPIDEMIOLOGY
Prevalence: ~ 2/1000 live births

ETIOLOGY
Down syndrome
Fetal alchohol syndrome
Holt-Oram syndrome

PATHOPHYSIOLOGY
Impaired growth or excessive resorption of the atrial septa in utero leads to atrial septal defects.
Ostium primum atrial septal defect (ASD I): (~ 15–20%)
Ostium secundum atrial septal defect (ASD II): (~ 70%)
Typically a low-pressure, low-volume, minor left-to-right shunt ? patients are asymptomatic
In larger defects, the shunt may lead to: right heart failure, supraventricular arrhythmias, pulmonary hypertension, cor pulmonale, and/or the Eisenmenger reaction

  • CLINICAL FINDINGS
    Depend on defect size and shunt volume
    Small defects: usually asymptomatic
    Large defects
  • Palpitations
  • ASDs typically manifest with advancing age.
  • Auscultation
  • Systolic ejection murmur over the left second ICS sternal border
  • Widely split second heart sound (S2) over the left second ICS, which is fixed (does not change with respiration ), normal S1
  • Soft mid-diastolic murmur over the lower left sternal border

DIAGNOSTICS
Echocardiography (confirmatory test): to visualize the defect, its extent, and shunt volume
ECG: vertical or right axis, P pulmonale, right bundle branch block (complete or incomplete), signs of right heart hypertrophy, PR prolongation
Chest x-ray: enlarged right atrium, ventricle, and pulmonary arch; increased pulmonary vasculature

TREATMENT
In childhood, spontaneous closure may occur.
Patch repair
Indicated in symptomatic children with significant left-to-right shunt
Surgical or via percutaneous transcatheter procedure

COMPLICATION
Paradoxical embolism risk of stroke

VENTRICULAR SEPTAL DEFECT (VSD)

ventricular septal defect
ventricular septal defect

EPIDEMIOLOGY
The most common congenital heart defect (4/1000 live births)
Occurs as an isolated heart defect or in combination with others

ETIOLOGY
Genetic syndromes: Down syndrome, Edward syndrome, Patau syndrome
Fetal alcohol syndrome
Intrauterine infection (e.g., TORCH)

PATHOPHYSIOLOGY
Localization: most commonly in the membranous part of the ventricular septum (pars membranacea)
Defect in ventricular septum  left-to-right shunt with the following consequences:
LV volume overload  left ventricular hypertrophy
Excessive pulmonary blood flow  increased pulmonary artery pressures  pulmonary hypertension and right-sided heart hypertrophy
Decreased cardiac output
Possibly an Eisenmenger reaction in late stage of disease due to irreversible pulmonary hypertension

CLINICAL FINDING
Small defects: usually asymptomatic
Medium-sized or large defects
Lead to cardiac failure in the first 2–3 months of life

Palpation: Hyperdynamic precordium may be detected in hemodynamically relevant defects.
Auscultatory findings
Harsh holosystolic murmur over the left lower sternal border; typically louder in small defects
Mid-diastolic murmur over cardiac apex
Systolic thrill
Loud pulmonic S2 (if pulmonary hypertension develops)

DIAGNOSIS
Doppler echocardiography: confirms diagnosis; evaluation of defect size and shunt volume; exclusion of other anomalies
ECG: signs of right heart hypertrophy
Chest x-ray
Enhanced pulmonary vascular markings
Left atrial and ventricular enlargement
In later stages, enlarged right ventricle and pulmonary artery (due to elevated PVR)

TREATMENT
Small VSDs: rarely require surgical interventions small to moderate defects often heal spontaneously; follow-up echocardiography recommended
Symptomatic and large VSDs
Surgical (patch) repair in children < 1 year of age with signs of pulmonary hypertension and older children who did not improve with medical therapy
Closure of a VSD results in a decrease in right ventricular and left atrial pressures and an increase in left ventricular pressure when compared to pre-treatment values
Heart-lung transplant or lung transplant with concurrent VSD repair if Eisenmenger’s reaction has occurred

  • COMPLICATIONS
  • Arrhythmias
  • Right heart failure
  • Eisenmenger’s reaction
  • Infective endocarditis
  • Aortic regurgitation

CONGENITAL PATENT DUCTUS ARTERIOSUS (PDA)

patent ductus arteriosus
  patent ductus arteriosus

GLOSSARY
While still in the mother’s womb, a baby does not need their lungs to supply oxygen because they receive oxygen from their mother. Since a baby’s lungs do not provide oxygen, there is no need for the heart to pump blood to the lungs. The ductus arteriosus is a blood vessel that is present in all babies while still in the womb, and it allows blood to bypass the lungs.

When the baby is born and the umbilical cord is cut, their lungs need to supply oxygen to their body. Their lungs expand, their blood vessels relax to accept more blood flow, and the ductus arteriosus usually closes within the first hours of life. Sometimes, the ductus arteriosus does not close on its own. This is known as a patent (“open”) ductus arteriosus. While this condition is seen more often in premature babies, it may also appear in full-term infants.

SYMPTOMS OF PATENT DUCTUS ARTERIOSUS
The symptoms of a patent ductus arteriosus depend on the size of the ductus and how much blood flow it carries. After birth, if a ductus arteriosus is present, blood will flow from the aorta (the main artery in the body) into the pulmonary artery. This extra blood flow into the lungs can overload the lungs and put more burden on the heart to pump this extra blood. Some babies may need more support from a ventilator and have symptoms of congestive heart failure.

A newborn with a patent ductus arteriosus may have:

  • Fast breathing
  • A hard time breathing
  • More respiratory infections
  • Tire more easily
  • Poor growth
    However, if the patent ductus arteriosus is not large, it may cause no symptoms and your doctor may not find it until they do further evaluation of a heart murmur.
    Even if there are no symptoms, the turbulent flow of blood through the patent ductus arteriosus puts a person at a higher risk for a serious infection, known as endocarditis.

DIAGNOSIS
Because of turbulent blood flow, a patent ductus arteriosus causes a distinct sounding heart murmur that is heard on physical exam.

The murmur, along with symptoms of heart failure in a premature infant, most often lead to the diagnosis of patent ductus arteriosus. A chest X-ray will show an enlarged heart and evidence of a large amount of blood flow to the lungs. An echocardiogram is done to confirm the diagnosis. doctor can see the size of the ductus arteriosus and also find out if the heart chambers have become enlarged due to the extra blood flow.

In older children, though, their chest X-ray is typically normal. An echocardiogram will show the flow of blood through the patent ductus arteriosus and is typically done to confirm the diagnosis.

In a newborn, the patent ductus arteriosus still has the chance to close on its own. Doctor may allow more time for the patent ductus arteriosus to close on its own if their heart failure is under control. If a newborn’s symptoms are severe or it is unlikely to close on its own, medical or surgical treatment is needed.

Medicines work best for newborns. They may receive medicine, such as indomethacin or ibuprofen, to constrict the muscle in the wall of the patent ductus arteriosus and help it close. These drugs do have side effects, so not all babies can receive them.

SURGERY
A small incision is made between the ribs on the left side.
The ductus arteriosus is tied and cut.
The risk of complications with any of these treatments is low, determined mostly by how ill the child is prior to treatment.

PDA IS GOOD OR NOT
Yes. Some babies have heart defects that require the patent ductus arteriosus to remain open for them to survive.

In some heart defects, such as pulmonary atresia (an underdeveloped or blocked pulmonary valve), the patent ductus arteriosus supplies the only adequate source of blood flow to the lungs so that oxygen can be delivered to the blood. In these patients, the ductus arteriosus supplies blood to the lungs from the aorta.

COARCTACTION OF AORTA

coarctation of the aorta11
coarctation of the aorta

Coarctation (ko-ahrk-TAY-shun) of the aorta — or aortic coarctation — is a narrowing of the aorta, the large blood vessel that branches off your heart and delivers oxygen-rich blood to body. When this occurs, your heart must pump harder to force blood through the narrowed part of your aorta.
Coarctation of the aorta is generally present at birth (congenital). The condition can range from mild to severe, and might not be detected until adulthood, depending on how much the aorta is narrowed.
Coarctation of the aorta often occurs along with other heart defects. While treatment is usually successful, the condition requires careful lifelong follow-up.

SYMPTOMS
Coarctation of the aorta symptoms depend on the severity of the condition. Most people don’t have symptoms. Children with serious aortic narrowing may show signs and symptoms earlier in life, but mild cases with no symptoms might not be diagnosed until adulthood. People may also have signs or symptoms of other heart defects that they have along with coarctation of the aorta.

  • Babies with severe coarctation of the aorta may begin having signs and symptoms shortly after birth. These include:
  • Pale skin
  • Irritability
  • Heavy sweating
  • Difficulty breathing
  • Difficulty feeding
  • Left untreated, aortic coarctation in babies might lead to heart failure or death.

Older children and adults with coarctation of the aorta often don’t have symptoms because their narrowing may be less severe. If you have signs or symptoms that appear after infancy, you most commonly will have high blood pressure (hypertension) measured in your arms. However, your blood pressure is likely to be lower in your legs.

  • SIGNS AND SYMPTOMS
  • High blood pressure
  • Headache
  • Muscle weakness
  • Leg cramps or cold feet
  • Nosebleeds
  • Chest pain

Seek medical help if child has the following signs or symptoms:

  • Severe chest pain
  • Fainting
  • Sudden shortness of breath
  • Unexplained high blood pressure
  • While experiencing these signs or symptoms doesn’t necessarily mean that you have a serious problem, it’s best to get checked out quickly. Early detection and treatment might help save your life.

CAUSES

Rarely, coarctation of the aorta develops later in life. Traumatic injury might lead to coarctation of the aorta. Rarely, severe hardening of the arteries (atherosclerosis) or a condition causing inflamed arteries (Takayasu’s arteritis) can narrow the aorta, leading to aortic coarctation.

Coarctation of the aorta usually occurs beyond the blood vessels that branch off to your upper body and before the blood vessels that lead to your lower body. This can often lead to high blood pressure in your arms but low blood pressure in your legs and ankles.

With coarctation of the aorta, the lower left heart chamber (left ventricle) of your heart works harder to pump blood through the narrowed aorta, and blood pressure increases in the left ventricle. This may cause the wall of the left ventricle to thicken (hypertrophy).

Prevention

Coarctation of the aorta can’t be prevented, because it’s usually present at birth (congenital). However, if you or your child has a condition that increases the risk of aortic coarctation, such as Turner syndrome, bicuspid aortic valve or another heart defect, or a family history of congenital heart disease, early detection can help. Discuss the risk of aortic coarctation with your doctor.