Inherited Cardiac Conditions We Treat

In our Cardiogenomics program at Betty Irene Moore Children’s Heart Center we treat an array of inherited heart conditions—from simple to the most complex. These conditions include:

Familial hypercholesterolemia

Familial hypercholesterolemia (FH) is an inherited form of high cholesterol. Individuals with this condition are at a significantly increased risk of premature coronary artery disease and heart attacks. This is due to the buildup of LDL cholesterol, commonly referred to as “bad cholesterol,” in the coronary arteries. If not treated early, this bad cholesterol begins building up in childhood. Boys with FH who go untreated have an estimated 50 percent risk of heart attack by age 50. Untreated girls with FH have an estimated 30 percent risk of heart attack by age 60. These life-threatening events can be prevented, but only if the condition is identified early and properly treated. Children can be started on cholesterol lowering medications as early as age 8. Starting these medications early can significantly reduce the risk of premature coronary disease, and can ultimately save an individual’s life.

Congenital heart defects

Congenital heart defects occur when the heart does not develop properly, causing a difference in how the heart and/or major blood vessels are formed. The underlying genetic cause of congenital heart defects is still being explored. Often, congenital heart defects are believed to be multifactorial, meaning both genetic and environmental factors play a role in their development. Some types of heart defects tend to be highly heritable, so other family members may be at an increased risk of also having the congenital heart defect. Some types of congenital heart defects are mild and may go unnoticed but do have possible associated health complications. Heart defects affecting the left side of the heart tend to be the most heritable type. Some examples of these defects include tetralogy of Fallot, hypoplastic left heart, coarctation of the aorta and bicuspid aortic valve.

Inherited arrhythmias

An arrhythmia is an irregularity in the heart’s electrical system that creates an irregular heartbeat. This can impact the heart’s ability to pump properly. Some forms of arrhythmia are hereditary, and checking family members’ hearts may help reveal whether one of these conditions is running in the family. Arrhythmias can be triggered by certain types of events (i.e., exercise, stress, startle). These events can increase an individual’s risk of sudden cardiac arrest and death. If arrhythmias are identified early and properly treated or managed, the risk can be decreased.

Some of the heart rhythm conditions we see frequently are:

  • Long QT syndrome (LQTS)
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT)
  • Brugada syndrome (BrS)
  • Sudden death with uninformative autopsy

Inherited cardiomyopathies

A cardiomyopathy is a disease of the heart muscle walls. The walls may become unusually thick and stiff or unusually thin and weak. This impacts how well the heart muscle is able to squeeze and relax. These changes to the muscle can make it difficult for the heart to carry out its ability to effectively pump blood to the body. There are different types of cardiomyopathy, and each type has a particular impact on heart function. Cardiomyopathies can also increase the risk of arrhythmias. If identified early and properly treated or managed, the risk can be decreased.

Some of the cardiomyopathies we see frequently are:

  • Hypertrophic cardiomyopathy (HCM)
  • Restrictive cardiomyopathy (RCM)
  • Dilated cardiomyopathy (DCM)
  • Left ventricular noncompaction (LVNC)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Other specialists at our hospital provide care for other inherited conditions, as well. If your family is affected by one of the following conditions, please contact these other groups directly.

Have questions? Call us for more information: (650) 262-3341