Typical signs of LVNC in patients with heart failure and/or arrhythmias may include shortness of breath, fatigue, dizziness, presyncope, syncope, and palpitations. Signs in infants with LVNC can be excessive sweating during feeding/activity, poor growth, or difficult feeding. LVNC patients without symptoms may be at risk for critical complications, such as cardiac arrest due to ventricular tachycardia. Most LVNC patients have a low risk for sudden cardiac arrest. However, individuals with LVNC at risk need regular follow-up by an experienced cardiologist. Diagnosis of LVNC includes family history, individual medical history (symptoms of heart failure, arrhythmias, exercise intolerance), and physical assessment by electrocardiogram, Holter-ECG, echocardiography, exercise testing, and cardiac magnetic resonance imaging.
Typical signs of DCM in adult individuals are shortness of breath, fatigue, syncope, palpitations, persistent cough, or unexplained weight gain. Newborns or infants with DCM may show difficult feeding, poor growth, excessive sweating, or fast breathing. Diagnosis of DCM usually occurs by assessing the cardiac function and size with echocardiography. Echocardiography examines the degree of left ventricular dilatation and ejection fraction. Diagnosis of DCM includes the family history, individual medical history, and physical assessment with electrocardiogram, Holter-ECG, echocardiography, exercise testing, and cardiac magnetic resonance imaging. The individual medical history should focus on heart failure signs such as poor feeding/growth, arrhythmias and exercise intolerance. The patient’s family history needs to assess cardiomyopathy, arrhythmias, sudden cardiac death, and other cardiac diseases in relatives.
Patients with 1p36 deletion syndrome may develop cardiomyopathy (LVNC and DCM) and/or structural heart defects.
Congenital heart defects 43-71%
Cardiomyopathy: LVNC and dilated cardiomyopathy 23-27%
Patients with 1p36 deletion syndrome are characterized by various deficits resulting from the contiguous gene syndrome. Among the features associated with 1p36del are craniofacial dysmorphism, structural brain abnormalities, seizure disorder, hearing loss, intellectual disability, obesity, and growth delay. Other features are:
- Large anterior fontanelle
- Low-set ears
- Flat nasal bridge
- Pointed chin
- Mental retardation
- Structural brain abnormalities
- Eye/ vision problems
- Seizures
- Skeletal anomalies
- Brachydactyly
- Short feet
- Hypotonia