Approaching the facts between genetic mutation and clinical practice of hypertrophic cardiomyopathy

INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is one of the most common cardiomyopathies, which induces sudden cardiac death. Several mutants have been identified among HCM cases. METHODS AND RESULTS: A 10-month female infant who experienced cough, fever, aggressive exertional dyspnea, and recurrent cyanosis was admitted to our hospital. The patient was first diagnosed with type I respiratory failure, dysfunction of heart, severe pneumonia, and also some cardiac disorders were suspected. The echocardiography, cardiac computed tomography scan, cardiac magnetic resonance imaging scan, and also electrocardiogram were performed to confirm a diagnosis of HCM. Moreover, the whole-genome sequencing and chromatin analysis have been suggested. Based on the sequencing analysis, a new heterozygous mutant of RAF1 at c. 770C>T had been identified in absence of the same mutant in both her parents. Besides, the existence of normal karyotypes was confirmed among 3 samples. CONCLUSION: So we first reported a single mutant of RAF1 770C>T with idiopathic HCM in a very early age. This patient would have suffered significant cardiac ventricular hypertrophy with more severe clinical manifestation in an extremely younger age compared with other identified mutations. However, we could only take limited advantages of deoxyribonucleic acid sequencing in HCM diagnosis and therapy. Reporting additional observations of well designed cohorts with a long-term follow-up would be very helpful to accelerate the transition of genetic molecular research on HCM.