Pediatric Inherited Cardiovascular Conditions 

In our Pediatric Inherited Cardiovascular Disorders program at the Betty Irene Moore Children’s Heart Center, we work to detect an array of inherited heart and blood vessel conditions—from simple to the most rare and complex. Upon identification, we collaborate with specialized heart care teams at Stanford Medicine Children’s Health (as listed below) to ensure that your child receives the best possible treatment for their inherited cardiovascular disorder.

The main categories of cardiovascular conditions for which we provide genetic services include the following, among others:

Inherited cardiomyopathies

Cardiomyopathy is a disease of the heart muscle, which causes it to become unusually thick and stiff or unusually thin and weak. Some forms of cardiomyopathy are hereditary (run in the family). Cardiomyopathies that we frequently identify include hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), dilated cardiomyopathy (DCM), left ventricular noncompaction (LVNC), and arrhythmogenic right ventricular cardiomyopathy (ARVC), among others.

We coordinate your child’s care with our Stanford Children’s Pediatric Cardiomyopathy Program and/or the Pediatric Advanced Cardiac Therapies (PACT) program, as needed.

Inherited arrhythmias

An arrhythmia is a problem in the heart’s electrical system that creates an irregular heartbeat. Some forms of arrhythmia are due to inherited arrhythmia conditions that can affect multiple family members. Our program frequently identifies the following inherited arrhythmia conditions among others: long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome (BrS), and also sudden death with uninformative autopsy or unknown cause.

We coordinate your child’s care for a hereditary arrhythmia with our Stanford Children’s Pediatric Electrophysiology and Arrhythmia Program.

Inherited lipid conditions

If your child has abnormal blood cholesterol levels (e.g., high LDL cholesterol and high triglycerides), and there is a family history of high cholesterol and/or early-onset heart attacks, your child may have an inherited form of high cholesterol, such as familial hypercholesterolemia (FH), which can be managed with treatment. Early identification of inherited high cholesterol, followed by appropriate management, is an important step toward reducing your child’s risk of developing heart disease over their lifetime.

For children who are suspected of having familial high cholesterol, we recommend a referral to our Stanford Children’s Pediatric Lipid Clinic.

Single ventricle anomalies and other congenital heart defects

Congenital heart defects (CHD) happen when the structure (anatomy) of the heart does not develop properly in the womb, causing a difference in how a baby’s heart and/or major blood vessels are formed and how they function. Some examples of these heart defects that we see in our program include hypoplastic left heart syndrome (single ventricle anomaly), tetralogy of Fallot, coarctation of the aorta, and bicuspid aortic valve. We coordinate your child’s care with our Stanford Children’s programs that specialize in CHD, such as our Single Ventricle and Pulmonary Artery Reconstruction programs.

In some instances, CHD can be due to an underlying genetic condition, which can be either isolated or associated with a syndrome (meaning that other organ systems are also affected). If your child has isolated CHD, their cardiologist might recommend a visit to our program. If there is suspicion that CHD is associated with a genetic syndrome, you may be referred to the medical genetics team of the specialty heart program that is caring for your child.

In some instances, CHD can be due to an underlying genetic condition, which can either be isolated or associated with a syndrome (meaning that other organ systems are also affected). If an individual has isolated CHD, an appointment with a cardiovascular genetic counselor may be recommended. If there is suspicion that CHD is associated with a genetic syndrome, you may be referred to the medical genetics team of the specialty heart program that is caring for your child.

Cardiovascular connective tissue disorders

Connective tissue is found throughout the body. Its job is to hold tissues and organs in place. Specific genes affect how the connective tissue within a child’s body is formed. When these genes are damaged or altered, children can develop a connective tissue disorder. We commonly see the following connective tissue disorders, among others, that can have cardiovascular consequences: Marfan syndrome, Williams syndrome, and Loeys-Dietz syndrome.

We coordinate your child’s care for a genetic cardiovascular connective tissue disorder with our Stanford Children’s Cardiovascular Connective Tissue Disorders Program.

Inherited pulmonary hypertension/pulmonary vascular disease

Pulmonary hypertension (PH)/pulmonary vascular disease (PVD) is when the blood vessels in the lungs do not form correctly while a baby develops in the womb. Over time, these vessels can become increasingly blocked or narrowed, causing high blood pressure in the lungs, which can at times lead to heart failure. Some types of PH are inherited. We coordinate your child’s care for pulmonary hypertension with our Stanford Children’s Pulmonary Vascular Disease Program.

Curious to learn more about inherited heart or blood vessel disease? Watch this video featuring our genetic counselors to learn more:

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