PRDM16

Clinical Characteristics

Typical signs in adult LVNC patients with heart failure and/or abnormal heart rhythm may include shortness of breath, fatigue, dizziness, temporary loss of consciousness, and feeling of abnormal heart beating. 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 requires cardiac testing (echocardiography). The family history, individual medical history (symptoms of heart failure, arrhythmias, exercise intolerance), and physical assessment are important .

Typical signs of DCM in adult individuals are shortness of breath, fatigue, feeling dizzy, temporary loss of consciousness, feeling abnormal heart beating, persistent cough, or unexplained weight gain. Newborns or babies with DCM may show difficult feeding, poor growth, excessive sweating, excessive fussiness, or fast breathing. Diagnosis of DCM usually occurs by assessing the cardiac function and structure with echocardiography. Echocardiography diagnoses the degree of left ventricular dilatation and heart performance. Further diagnostic tests comprise electrocardiography (ECG), exercise stress echocardiography, blood test, cardiac magnetic resonance imaging. Physical examination is required to assess the cardiac function and the skeletal muscle strength. 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 and/or structural heart defects. Patients with 1p36 deletion syndrome are characterized by craniofacial dysmorphism, structural brain abnormalities, seizure disorder, hearing loss, intellectual disability, obesity, and growth delay.