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Noncompaction Cardiomyopathy > Genetics and Family Screening > Flashcards

Genetics and Family Screening Flashcards

1
Q

What is Noncompaction Cardiomyopathy (NCCM)?

A

NCCM is characterized by endocardial hypertrabeculation of the myocardium of the left ventricle.

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2
Q

What genetic mutation was first identified as a cause of NCCM?

A

A mutation in the X-linked TAZ gene.

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3
Q

In what year was the first genetic cause for NCCM identified?

A

1997.

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4
Q

What is the prevalence of mutations in sarcomere genes among NCCM patients?

A

Sarcomere genes are the most prevalent genetic causes of NCCM.

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5
Q

What percentage of NCCM patients have a mutation identified through next generation sequencing?

A

Around 35%.

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6
Q

What proportion of NCCM patients are considered to have a genetic cause?

A

Approximately 50%.

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7
Q

What is the recommendation for relatives of patients diagnosed with NCCM?

A

Referral for genetic counseling.

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8
Q

True or False: In 45% of familial NCCM, no mutation can be identified.

A

True.

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9
Q

What types of genetic causes are recognized for NCCM?

A
  • Genetic NCCM
  • Sporadic NCCM
  • Benign LV hypertrabeculation.
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10
Q

What are the three main categories of genetic burden for noncompaction recognized?

A
  • Patients with genetic NCCM
  • Sporadic NCCM without a genetic cause
  • Healthy individuals with benign LV hypertrabeculation.
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11
Q

What is the risk for first-degree relatives if a mutation is found in NCCM?

A

They are advised to undergo DNA testing for the familial mutation.

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12
Q

What percentage of NCCM patients have defects in sarcomere genes?

A

71%.

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13
Q

What is the inheritance pattern of defects in sarcomere genes causing NCCM?

A

Autosomal dominant.

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14
Q

Fill in the blank: Patients with two sarcomere gene mutations may have more severe clinical features than their relatives with _______.

A

single mutations.

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15
Q

What is Barth syndrome caused by?

A

Defects in the TAZ gene on the X chromosome.

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16
Q

What is the role of mitochondrial defects in NCCM?

A

They lead to insufficient energy production required in various organs.

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17
Q

What chromosomal defect is frequently reported in children presenting with NCCM?

A

1p36 deletion syndrome.

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18
Q

What does genetic counseling for NCCM involve?

A

Performing DNA analysis and detecting familial disease.

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19
Q

What is the purpose of genetic counseling in NCCM?

A

To estimate risk for relatives and convey information on the risks to index cases.

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20
Q

What are some mitochondrial genes linked to NCCM?

A
  • MT-ATP6
  • MT-ATP8
  • MT-CO1
  • MT-CO3
  • MT-CYB
  • MT-ND1
  • MT-ND2
  • MT-ND6.
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21
Q

What percentage of genetic NCCM patients may not show familial disease?

A

At least one third.

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22
Q

What is the primary role of genetic counselors in the context of NCCM?

A

To explain clinical features of the disease and the inheritance pattern, and organize informing and screening family members.

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23
Q

What is a key component of genetic counseling related to family members?

A

Helping index cases and their relatives handle information on heredity and discussing subsequent risks and consequences.

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24
Q

True or False: Genetic counseling aims to make scientific information accessible both intellectually and emotionally for patients and their families.

A

True

25
Q

What emotional responses may patients or relatives experience during genetic counseling?

A

Distress, anxiety, or guilt.

26
Q

What is the purpose of obtaining family history in genetic counseling for NCCM?

A

To determine if cardiomyopathy is familial and identify the mode of inheritance.

27
Q

Fill in the blank: An uninformative family history cannot completely exclude a genetic cause for _______.

A

NCCM

28
Q

What percentage of NCCM patients without affected relatives are known to have a mutation?

A

Approximately 20%

29
Q

What factors may contribute to the underreporting of familial cardiomyopathy?

A
  • Affected relatives may not have been diagnosed with NCCM.
  • Family histories may not be informative due to small family size or little information on relatives.
30
Q

What is the main goal of DNA testing for NCCM patients?

A

To identify the genetic cause for NCCM.

31
Q

How does identifying a mutation in a family help in predictive testing?

A

It allows asymptomatic relatives to have a predictive DNA test identifying those at increased risk.

32
Q

What is the significance of the genotype in NCCM patients?

A

It may help predict risk for ventricular systolic dysfunction and major cardiac adverse events.

33
Q

What do NGS gene panels improve in genetic testing for NCCM?

A

The yield of genetic testing by allowing simultaneous analysis of multiple cardiomyopathy genes.

34
Q

List three genes commonly included in cardiomyopathy gene panels.

A
  • MYH7
  • MYBPC3
  • TTN
35
Q

What classification system is used for interpreting DNA analysis results?

A
  • Pathogenic variants (PV)
  • Likely pathogenic variants (LPV)
  • Variants of unknown clinical significance (VUS)
  • Likely benign or benign variants
36
Q

True or False: DNA testing of pre-symptomatic family members is indicated only when there is a PV or LPV in the family.

A

True

37
Q

What percentage of NCCM patients have concomitant congenital heart defects?

A

Around 10%

38
Q

What is the importance of family screening in NCCM?

A

To determine the risk of cardiomyopathy in relatives.

39
Q

What factors influence the risk of cardiomyopathy in relatives of NCCM patients?

A
  • Genetic defect in the index case
  • Mode of inheritance
  • Gene-specific penetrance
  • Age at diagnosis of the index case
40
Q

What is recommended for adult relatives of NCCM patients with a causative mutation?

A

Predictive DNA testing.

41
Q

What psychological impact can regular hospital visits have on children undergoing screening for NCCM?

A

Adverse psychological effects like anxiety or depression.

42
Q

What is a significant risk for women with NCCM during pregnancy?

A

Developing heart failure and/or arrhythmias.

43
Q

What prenatal diagnostics can be discussed for women with NCCM?

A
  • Prenatal DNA testing
  • Prenatal cardiac ultrasound of the fetus
44
Q

What is the risk for women with cardiomyopathy who have symptoms before pregnancy?

A

Increased risk and need for specialized obstetric care

Women with asymptomatic cardiomyopathies usually tolerate pregnancy well.

45
Q

What is the likelihood of NCCM patients having a child with a cardiomyopathy?

A

Increased risk

Prenatal diagnosis can be discussed depending on mutation presence and risk estimates.

46
Q

Why are prenatal diagnostics for NCCM rarely requested?

A

The risk of severe congenital NCCM in children is small

Symptoms of NCCM are age-related and may not be present in patients/carriers.

47
Q

When is prenatal diagnosis for NCCM recommended?

A

When there is an affected child in the family

Individual options and limitations are discussed with NCCM patients with reproductive wishes.

48
Q

What is a significant consideration for prenatal testing in NCCM?

A

Familial mutation

Prenatal DNA testing can be performed if a mutation is present in the family.

49
Q

What are the two methods for prenatal DNA testing?

A
  • Chorionic villus sampling (10–12 weeks)
  • Amniocentesis (14–20 weeks)

Results are usually available within 2–3 weeks.

50
Q

What should parents be informed about regarding prenatal testing interventions?

A

Risks for the mother and fetus, including miscarriage

Parents may choose to terminate the pregnancy if severe conditions are detected.

51
Q

What does prenatal cardiac sonography allow for?

A

Detection of fetal cardiac malformations, cardiomyopathies, and arrhythmias

Performed in specialized tertiary prenatal centers.

52
Q

What is a major limitation of prenatal sonography for NCCM?

A

Little is known about the onset and prenatal development of NCCM

Difficulty in predicting which patients will show signs of noncompaction prenatally.

53
Q

What psychological impact may genetic testing have on patients and their families?

A

Increased burden and anxiety about risk transmission

The burden of cardiac symptoms often has a greater psychosocial impact than the genetic aspect.

54
Q

What factor may lead to more distress in index cases undergoing genetic testing?

A

Having a cardiomyopathy

Relatives usually are asymptomatic, leading to less distress.

55
Q

What is recommended for relatives from a family with a mutation?

A

Cardiologic screening

Also recommended for families without a mutation from age 10 onwards.

56
Q

What does cardiologic screening include?

A
  • Physical examination
  • 12-lead electrocardiography
  • Echocardiography

Expanded cardiac work-up may be needed if abnormalities are found.

57
Q

What should be done for mutation carriers without a phenotype?

A

Cardiac examination every 5 years

They may develop a cardiomyopathy later in life due to age-related increase in penetrance.

58
Q

What is the prevalence of cardiomyopathy identified in mutation carriers during first screening?

A

50–70%

About 30% of these patients are asymptomatic.

59
Q

When should cardiologic follow-up occur for patients diagnosed with NCCM?

A

Every 1–2 years or sooner if new symptoms arise

Lifelong follow-up is required to monitor changes in symptoms and cardiac function.

Noncompaction Cardiomyopathy (9 decks)

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