Janine Bianca Marie M. Rafael

Adult Cardiology Fellow at Philippine Heart Center 1100

Abstract Title: Heart Failure and Cardiomyopathies

Biography: Janine Bianca Marie M. Rafael, MD, MBA earned her medical and masteral degrees from the Ateneo School of Medicine and Public Health, Pasig City, Philippines in year 2020. She had her residency training in Internal Medicine from the largest Philippine government hospital (University of the Philippines – Philippine General Hospital) during the peak of the COVID-19 pandemic, and completed her training in year 2023. She is currently a second-year fellow of the Department of Adult Cardiology in the Philippine Heart Center, Quezon City, Philippines, which is the nation’s largest end-referral hospital for cardiac cases.

Research Interest: Hypertrophic cardiomyopathy (HCM) is the most common monogenic heart disease known to humankind with a prevalence of 0.2% or 1 in 500 of the general population. Despite it being known worldwide, there is still an annual mortality of 1-2% with it being the number one cause of sudden cardiac death among young people. We present a 26-year-old Filipino female with a diagnosed hypertrophic non-obstructive cardiomyopathy who presented with progressive shortness of breath associated with easy fatigability, dizziness, and exertional dyspnea. Workup for the patient revealed complete heart block, a multisegmental wall motion abnormality and abnormal speckle tracking strain values on transthoracic echocardiogram, and a reduced left ventricular ejection fraction of 39% with patchy scattered fibrosis and elevated native T1 values on cardiac magnetic resonance imaging. Dualchamber implantable cardioverter defibrillator (ICD) implantation was successfully done with no perioperative complications. She was discharged well with guideline-directed medical therapy appropriate for her heart failure with reduced ejection fraction. This case report is the first in the Philippines that links hypertrophic non-obstructive cardiomyopathy and heart failure with reduced ejection fraction as well as the rare presentation of complete heart block in HCM that was extensively worked up and successfully managed with a dual-chamber ICD implantation. This case highlights the importance of knowing both the typical and atypical presentations of patients with hypertrophic cardiomyopathy with concomitant heart failure and proper diagnostic tests to initiate an early intervention, which may be life-saving for our patients