How to Prepare for Your Appointment

To get the most out of your genetic counseling appointment, we encourage you to gather information about your family history before your appointment. Your genetic counselor will want to know about any medical conditions—especially any heart-related conditions—that you or your family members may have.

Many hereditary heart conditions can move through a family silently. A few generations may go by without anyone showing obvious signs of disease. This is why the genetic counselor will look very broadly at your family history over three to four generations. Even if a suspicious event occurred in a distant relative, it can still be useful information.

Frequently asked questions

  • Yourself
  • Your children
  • Your brothers and sisters
  • Your nieces and nephews
  • Your parents
  • Your aunts and uncles
  • Your cousins
  • Your grandparents
  • Their current age, or their age at death and the cause of their death
  • Their medical condition, and at what age each condition first appeared

It may be helpful to ask your family members if anyone in the family has experienced the following and, if so, how old they were when the event occurred.

  • Heart attack (cardiac arrest or myocardial infarction, especially before age 50)
  • Fainting episodes (especially with exercise, loud noises or strong emotion/startle)
  • Unexplained seizures
  • Palpitations, chest pain or shortness of breath
  • Heart murmur
  • Heart failure (especially before age 50)
  • Enlarged heart or thick heart
  • Stroke or abnormal blood clots (especially before age 60)
  • Heart surgery (valve replacement, myectomy, heart transplant or other)
  • Need for a pacemaker or implanted defibrillator (especially before age 50)
  • Born with a hole in the heart or another heart problem
  • Childhood deafness
  • Infant death, SIDS, late-term miscarriage or stillbirth
  • Accidental death (a drowning of someone who knew how to swim, or a single-car accident)
  • Other sudden, unexplained death of a seemingly healthy person (especially during exercise or sleep, and especially before age 50)

The Family History form may assist with collecting this information. Prior to the appointment, you might also be sent an online survey that asks questions about your personal and family history of disease.

Be sure to bring copies of any medical records, death certificates or autopsy reports you have that relate to a possible hereditary heart condition in the family. That way, the cardiologist and genetic counselor can review these with you during your appointment.

After the genetic counselor draws out your family tree, she or he may point out additional family members whose records it would be most helpful to have.

Cardiology records can be requested directly from the hospital or doctor's office where the family member was seen using this form. If your family members already have a copy of their records, they can scan and email them to your genetic counselor or fax them to our Betty Irene Moore Children's Heart Center at (650) 724-4922. (Be sure to indicate the name of the Heart Center patient on the fax cover sheet and send the records to the attention of the cardiogenomics team.)

You may wish to bring another adult or a babysitter with you to the appointment. Your visit with the genetic counselor will include a discussion of any heart disease symptoms or sudden deaths in the family, and it may involve discussions of other family members’ risk of sudden death. If you are concerned that these topics will be scary for your young children, or if you can focus better on the discussion without children in the room, that additional adult can take them to the waiting room.

You might suspect a heritable heart condition in your family in the following situations:

  • Familial hypercholesterolemia (FH)
    • A family history of premature coronary artery disease and/or heart attacks at early ages (men < 50; women < 60)
    • Elevated LDL-C levels (untreated)
      • Adults ≥ 190 mg/dL
      • Children ≥ 160 mg/dL
  • Congenital heart defects
  • Cardiomyopathy/arrhythmias
    • Unexplained sudden cardiac arrest or sudden death (especially < age 50)
    • Unexplained fainting and/or fainting with exercise, stress or startle
    • Enlarged heart, weak heart or cardiomyopathy
    • History of arrhythmias (atrial fibrillation, ventricular tachycardia) or ablation procedures
    • Family members have needed a pacemaker or ICD at a young age (< age 50)
    • Family members have had heart failure at young ages (< age 60)

During the appointment, your pediatric cardiologist and genetic counselor will work together to provide the following.

  • A thorough assessment of your family history (30 to 45 minutes)
  • Discussion of the diagnosis, including:
    • Suspected underlying cause
    • Inheritance pattern
    • Risk to other relatives and recurrence risk for future children
  • Discussion of genetic testing options and pre-/post-test genetic counseling
  • Screening recommendations and coordination of care for at-risk family members

Depending on your child’s reason for referral and his or her medical history, the doctor may recommend the following tests.

Genetic counselors also provide support to help you and your family deal with emotions that come with the diagnosis of an inherited condition. The genetic counselor will be happy to answer any questions you may have, so feel free to bring a list of questions and to tell your counselor what you most hope to accomplish during your appointment.