Background: Neonatal cardiomyopathy is a rare disease that ranges from being asymptomatic to abruptly lethal and is not well characterized [1]. We investigated the clinical features of five neonates with cardiomyopathy in our hospital to determine key clinical characteristics.
Methods: We retrospectively reviewed the records of five newborns who were diagnosed with cardiomyopathy between January 2000 and December 2018. The primary evaluation included reasons for diagnosis, underlying diseases, therapy, and turning point.
Results: Patients with hypertrophic cardiomyopathy (HCM) or left ventricular noncompaction (LVNC) were diagnosed on the basis of cardiac murmur, while the patient with dilated cardiomyopathy (DCM) was diagnosed on the basis of sucking failure. Underlying diseases included Noonan syndrome and LEOPARD syndrome. All patients had received β-blockers, and those with DCM and LVNC were also administered diuretics and angiotensin-converting enzyme inhibitors. The two patients with HCM underwent follow-up as out-patients. One patient with HCM died at 3 years old because of arrhythmia. The patient with DCM died due to heart failure 38 days after birth. The patient with LVNC exhibited severe heart failure after birth, requiring follow-up while considering heart transplantation.
Conclusion: Noonan syndrome and LEOPARD syndrome, which is RAS/MAPK-related diseases, should be considered in patients diagnosed HCM. Because heart failure progresses rapidly in patients with neonatal DCM and those with LVNC, planned therapy should include consideration of heart transplantation.
Noonan syndrome and RASopathies: Clinical features, diagnosis and management
