Congenital Heart Disease and Noncompaction Cardiomyopathy Flashcards
What is noncompaction cardiomyopathy (NCCM)?
A genetic cardiomyopathy characterized by an abnormal structure of the heart muscle, often diagnosed in adulthood
What is the prevalence of NCCM?
Approximately 0.14%
Which congenital heart disease is most commonly associated with NCCM?
Ebstein anomaly
What are common congenital heart diseases associated with NCCM?
- Ebstein anomaly
- Aortic coarctation
- Tetralogy of Fallot
- Bicuspid aortic valve
What diagnostic methods are used for NCCM?
- Transthoracic echocardiography
- Cardiac MRI
What is the diagnostic ratio for NCCM using echocardiography?
Greater than 2:1 at the end of diastole
True or False: NCCM can be present from birth.
True
What is Ebstein anomaly?
A malformation of the tricuspid valve characterized by the displacement of the tricuspid leaflets
What complications are associated with Ebstein anomaly?
- Cyanosis
- Right-sided heart failure
- Arrhythmias
- Sudden cardiac death
What are the common clinical presentations of NCCM?
- Heart failure
- Supraventricular arrhythmias
- Ventricular arrhythmias
- Sudden cardiac death
What are common treatments for NCCM?
- Beta-blockers
- Angiotensin-converting enzyme (ACE) inhibitors
What is the recommended follow-up for asymptomatic patients with preserved LV function?
Annual or biannual cardiologic follow-up
Fill in the blank: The main diagnostic modality for Ebstein anomaly is _______.
Transthoracic echocardiography
What is the risk associated with patients having both Bicuspid aortic valve (BAV) and NCCM?
Increased risk for heart failure, arrhythmias, thromboembolic events, and sudden cardiac death
What is the relationship between sarcomere gene mutations and NCCM?
Similar mutations found in patients with Ebstein anomaly suggest a genetic predisposition
What is pseudo-NCCM?
Heavily trabeculated myocardium that can be confused with NCCM, such as in congenitally corrected transposition of the great arteries
What is the significance of longitudinal studies on unaffected carriers of pathogenic mutations?
To provide insight into whether noncompaction may develop later in life
What are the challenges faced by patients with congenital heart disease (CHD) and NCCM?
Multiple previous surgical interventions and potential for heart failure and life-threatening arrhythmias
What is the recommended approach for anticoagulation therapy in NCCM?
Advised only in patients with ejection fraction less than 40%, atrial fibrillation, or previous thrombo-embolic events
True or False: Thromboembolic events are common in NCCM.
False
What is the importance of awareness among clinicians regarding NCCM?
To ensure early diagnosis and management in patients with congenital heart disease
What does the term ‘cardiac morphogenesis’ refer to?
The development of the heart’s structure during fetal growth, potentially influenced by sarcomere defects
What is the recommended diagnostic ratio for NCCM using MRI?
Greater than 2.3 at the end of diastole
What is the incidence of Ebstein anomaly?
Approximately 1 in 200,000 live births
