Cardiomyopathy in Children: Symptoms, Treatment, & Mortality

Kidnapped 5-year old American heart patient, Porter Stone, found safe — and how his case highlights cardiomyopathy in children

Five year-old Porter Stone, a heart patient who was next on a transplant waiting list when he was kidnapped by his estranged father from a St. Louis, Missouri hospital, has been found safe just outside Chicago, police announced early on April 25.

He was found in the wee hours of the morning in Alsip, a southwest suburb in Missouri, and then brought to the emergency room of Advocate Christ Medical Center in nearby Oak Lawn for an evaluation. The hospital staff said he is doing fine.

Illinois State Police located and arrested Porter’s 33-year old father Jeffrey Stone and his grandmother, Rhonda Maria Matthews in Alsip early in the morning of April 25. Three felony warrants were issued against them for kidnapping, interfering with custody and endangering the welfare of a child.

His discovery was a huge relief, since Porter was being treated for cardiomyopathy — a thickening of the heart muscle — and he had only about a day’s worth of medication left in a portable IV on him.

His father is now in police custody, a police dispatcher said. Shortly after the boy was taken from the hospital on April 24, a missing child alert was issued since the boy’s father didn’t have legal custody over him.

According to relatives, Porter’s parents are going through a divorce and are in a bitter custody battle over him, but right now it’s the mother, Tiffany Stone, who has legal custody of Porter.

The young boy, who lives in St. Joseph in northwestern Missouri, was on the St. Louis Children’s Hospital waiting list for a heart transplant. He was discharged after several days’ stay so that he could be monitored by doctors closer to home.

But right after being discharged, the father took Porter to the pharmacy while the mother went to get the car. Porter’s mother then reported that the father never came to the car. Then he reportedly called her while she was still at the hospital to say he was leaving with the child.

Asked why Jeffrey Stone took his son, Porter’s maternal uncle, Ian Fife said: “I believe it’s to try and hurt my sister, to try and take control of the situation since he has no custody of the children.”

“Anytime you have one parent, against the law, take a child who’s under certain medical care, and no longer is available to have that medical care, we’re very concerned. Very concerned,” said St. Louis police Capt. Jim Moran.

Before police found the boy, his doctor had expressed extreme concern. “He is currently on medicine for his heart condition, which is continuously infused into his vein, and he has enough for approximately the next 24 hours,” said Dr. F. Sessions Cole. “His heart function, which is already compromised, will begin to deteriorate” without treatment, the doctor said.


A weakening of the heart muscle or a change in the heart muscle — that’s what cardiomyopathy is. It occurs when the heart can’t pump as well as it should, and often, it comes together with other heart function problems. Most cardiomyopathy patients have heart failure.

Common cardiomyopathy types include:
• Dilated cardiomyopathy — is when the heart becomes enlarged and weak, and can’t pump blood well enough. Many different medical conditions can cause this type of cardiomyopathy.
• Hypertrophic cardiomyopathy (HCM) — is when heart muscle becomes thick. This thickening makes it harder for blood to leave the heart. This type of cardiomyopathy is usually hereditary. It’s the type that Porter Stone suffers from.
• Ischemic cardiomyopathy — is caused by the narrowing of the arteries that supply the heart with blood.
• Restrictive cardiomyopathy — describes a group of disorders that cause the heart muscle to become stiff, causing the heart chambers to be unable to fill with blood properly.
• Peripartum cardiomyopathy — occurs during pregnancy or in the first five months afterward.

Common causes of cardiomyopathy are:
• Coronary artery disease is the most common cause
• Genetic defects
• Amyloidosis, a group of diseases resulting from abnormal deposition of certain proteins (amyloids) in various bodily areas
• Infections due to viruses — HIV, Lyme disease and Chagas disease
• Chemotherapy drugs used to treat cancer
• Alcoholism and cocaine use
• End-stage kidney disease
• High blood pressure or hypertension
• Nutritional deficiencies — of selenium, thiamine, and calcium
• Pregnancy
• Systemic lupus erythematosus

Cardiomyopathy in children
Cardiomyopathy is the leading reason for heart transplants and sudden deaths in children. At least 100,000 children across the world are affected with cardiomyopathy. The disease occurs in about 12 children out of every million, with about 1,000 to 5,000 new cases diagnosed each year, according to the Pediatric Cardiomyopathy Registry. The majority of diagnosed children are infants under the age of one year old, followed by children 12 to 18 years of age.

Cardiomyopathy in children before puberty is considered extremely unusual and typically doesn’t have the same causes, symptoms or progression as cardiomyopathy in adults. This is unfortunate since there’s a mountain of literature on adult cardiomyopathy, but much of the information isn’t applicable to children diagnosed with the disease.

According to the Children’s Cardiomyopathy Foundation, there’s been little research and focus on pediatric cardiomyopathy over the years. Because of this, the causes aren’t well understood: in less than 25 percent of child cardiomyopathy, patients have an identified cause despite rigorous, standardized evaluation, according to the Pediatric Cardiomyopathy Registry.

What is known is that:
• Pediatric cardiomyopathy is more likely to be due to genetic factors, unlike adult cardiomyopathy where lifestyle or environmental factors play a greater role.
• The underlying causes of cardiomyopathy in infants and children are considerably different from those diagnosed in adolescents and adults with similar symptoms.
• When a child is diagnosed with cardiomyopathy, it’s important for this child to be properly evaluated for other suspected genetic disorders since pediatric cardiomyopathy may be a symptom of a larger genetic disorder that hasn’t been immediately detected — although this is rare.

Some genetic disorders that can cause cardiomyopathy:
• An infant or young child with dilated cardiomyopathy may be suffering from a rare genetic heart disease called Barth Syndrome or a mitochondrial defect like Kearns-Sayre syndrome.
• A child with severe hypertrophic cardiomyopathy may actually have Noonan Syndrome, Pompe disease (type II glycogen storage disease), a fatty acid oxidation disorder, or mitochondrial HCM.

Unfortunately, a thorough evaluation remains a complicated and expensive process because:
• Rare genetic causes are numerous.
• The range of symptoms is broad.
• Many specialized biochemical, enzymatic and genetic tests exist.
• Verifying a diagnosis requires getting additional blood, urine or tissue tests and consulting other specialists including a neurologist and geneticist.

Different symptoms
Typically, symptoms are not apparent until the late teens or adult years — this is when most patients are diagnosed. Even in the genetic versions of cardiomyopathy, a child that carries the muted gene from birth may be asymptomatic and appear to have a normal heart until puberty. In children, cardiomyopathy may also present differently that diagnosed in teenagers or adults. Because hypertrophic cardiomyopathy commonly develops in association with growth, it’s detected when a child progresses through puberty. Thus, overall, it’s considered unusual when an infant or a child is diagnosed with symptoms at such a young age.

In infants, common symptoms are:
• tachypnea or labored breathing that is faster and deeper than normal when lying down or with exertion
• poor appetite
• slow weight gain

In older children, signs may include:
• poor exercise tolerance
• gastrointestinal distress

Upon examination, children may show:
• swelling of the lungs
• an enlarged liver and heart
• abnormal lung and heart sounds related to a rapid, galloping heartbeat
• congestion in the lungs

In more severe cases, patients may experience:
• fainting (syncope)
• irregular heartbeats (arrhythmias)
• sudden cardiac death

Children with cardiomyopathies of a metabolic nature may have additional symptoms such as:
• hypoglycemia or low blood sugar
• metabolic acidosis or excessive acidity in the blood
• hypotonia neurological abnormalities such as decreased muscle tone
• encephalogpathy that causes changes in mental status or behavior

These symptoms may arise when the body’s metabolic demand exceeds supply or when the body cannot break down accumulated toxins.

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