Myocardial Infarction in a 17-Year-Old Patient diagnosed with MPOD II syndrome

Abstract

Introduction

Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) syndrome type 2, caused by a mutation in the PCNT gene (21q22.3), is a rare autosomal recessive disorder. Patients often present with bone dysplasia, dental anomalies, insulin resistance leading to diabetes, chronic kidney diseases, and cardiac malformations, making them prone to vascular diseases. Cardiomyopathy, hypertension, and coronary diseases are documented. The prognosis is strongly associated with cerebrovascular complications.

Method

We report case of a patient with MOPD type II who suffered an inferior myocardial infarction hospitalized in our institution. Informed consent for publishing patient information and images was obtained from the patient's parents.

Results

A 17-year-old female with MPOD II syndrome, weighing 20 kilograms and with a height of 86 centimeters, was referred for chest pain. She exhibited typical disease-related features. Thoracic pains had been occurring for over a month, increasing in intensity, with an episode prompting emergency consultation. Initial tests revealed elevated troponin and an inflammatory response. ECG showed ST-segment depression and elevation. Echocardiography revealed hypokinetic inferior walls with moderate concentric hypertrophy. Coronary CT scan showed subendocardial hypodensity. Diagnostic coronary angiography revealed tri-branch lesions and almost complete stenoses or occlusions on the circumflex artery (Figure 1). No indication for interventional treatment due to diffuse atheromatous lesions. Exclusive medical treatment was initiated.

Conclusion

MPOD II syndrome is associated with cardiac malformations and neurovascular complications, including myocardial infarction. Despite the infrequency of coronary syndrome at this age, regular electrocardiogram monitoring is advisable. Active surveillance for coronary diseases is necessary from adolescence onward. Recognizing this complication allows for prompt intervention at the onset of initial clinical signs. This case highlights the need for specific monitoring and prompt management of chest pain in patients with MPOD II syndrome. Primary prevention could mitigate the occurrence of coronary events in this high-risk population.