Noncompaction Cardiomyopathy in Childhood Flashcards
What is Noncompaction Cardiomyopathy (NCCM)?
A genetic disease characterized by excessive and unusual trabeculations within the mature left ventricle.
What is the primary morphological appearance of NCCM?
A spongy morphological appearance of the myocardium with abnormal trabeculations.
Which part of the heart is primarily affected by NCCM?
The left ventricle (LV).
What are the two distinct layers of myocardium noted in NCCM?
- Compacted myocardium
- Non-compacted myocardium
What are some clinical associations of NCCM?
- Left ventricular dilation
- Hypertrophy
- Systolic dysfunction
- Diastolic dysfunction
- Atrial enlargement
- Congenital heart disease
What is the estimated occurrence of NCCM in live births?
Approximately 1 per 7000 live births.
True or False: NCCM can occur in both children and adults.
True.
What are the risks associated with NCCM?
- Left or right ventricular failure
- Ventricular arrhythmias
- Atrioventricular block
- Sudden death
What factors may contribute to the variability in clinical presentation of NCCM?
Age and presence of associated systemic diseases.
Which imaging technique is commonly used for diagnosing NCCM?
Echocardiography.
What are the genetic causes of left ventricular noncompaction?
- ACTC1
- CASQ2
- DTNA
- DYS
- GLA
- LDB3
- LMNA
- MIB1
- MYBPC3
- MYH7
- Nkx2-5
- TAZ
- TNNT2
What are the potential outcomes for patients with NCCM?
- Asymptomatic
- End-stage heart failure
- Lethal arrhythmias
- Sudden cardiac death
Fill in the blank: NCCM is also known as _______.
left ventricular noncompaction (LVNC)
What was the prevalence of NCCM reported among heart failure patients?
3–4%.
What is a significant feature of NCCM pathology?
Numerous excessively prominent trabeculations with deep intra-trabecular recesses.
What is the role of mitochondrial function in NCCM?
Disrupted mitochondrial function is thought to have a causal role.
What is the significance of the Notch or Wnt signaling pathways in NCCM?
They may be part of a ‘final common pathway’ for NCCM associated with congenital heart disease.
What treatments are focused on for NCCM?
- Improvement of cardiac efficiency
- Reduction of mechanical stress
- Arrhythmia therapy
- Implantation of an ICD
Which age group has the worst reported outcomes for NCCM?
Infants.
True or False: Most patients with NCCM are symptomatic.
False.
What does the American Heart Association classify NCCM as?
A distinct cardiomyopathy.
What are the clinical features of NCCM?
Highly variable, ranging from asymptomatic to severe heart failure or arrhythmias.