Soonchunhyang Med Sci.  2016 Jun;22(1):38-41. 10.0000/sms.2016.22.1.38.

Left Ventricular Noncompaction Complicated with Myocardial Infarction with Barth Syndrome in a Newborn

• Yoo GH

• KMID: 2328778
• DOI: http://doi.org/10.0000/sms.2016.22.1.38

Abstract

Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized by a hypertrabeculation of the left ventricle. Patients may present with heart failure, arrhythmia, and thromboembolism. LVNC may be isolated or associated with congenital heart defects. The first discovered genetic cause of isolated LVNC was Barth syndrome (BTHS), an X-linked disorder caused by taffazin (TAZ) gene mutation. BTHS is characterized by cardiomyopathy, neutropenia, skeletal myopathy, and growth delay. A newborn male baby was referred to Soonchunhyang University Cheonan Hospital due to cyanosis and dyspnea. Based on findings of cardiomegaly, ST depression, and elevated cardiac enzyme, echocardiography was done, which revealed a hypocontractile, enlarged left ventricle with distinctive trabeculation in the apex. Heparinization for the treatment of myocardial infarction and continuous infusion of milrinone was started. During hospitalization, the TAZ gene mutation was detected in the patient, his mother, and elder sister. After 3 months, the patient was discharged with heart failure medication and aspirin.

Keyword

Isolated noncompaction of the ventricular myocardium; Barth syndrome; Infant, newborn; Myocardial infarction

MeSH Terms

Arrhythmias, Cardiac
Aspirin
Barth Syndrome*
Cardiomegaly
Cardiomyopathies
Chungcheongnam-do
Cyanosis
Depression
Dyspnea
Echocardiography
Heart Defects, Congenital
Heart Failure
Heart Ventricles
Heparin
Hospitalization
Humans
Infant, Newborn*
Isolated Noncompaction of the Ventricular Myocardium
Male
Milrinone
Mothers
Muscular Diseases
Myocardial Infarction*
Neutropenia
Siblings
Thromboembolism
Aspirin
Heparin
Milrinone