Title : The Underrepresented: A rare form of hypertrophic cardiomyopathy
Abstract:
Hypertrophic cardiomyopathy is a disease of the myocardium with an autosomal dominant inheritance pattern. Its primary cause is a mutation in the cardiac sarcomere proteins with contractile function. A defining feature and major hallmark of the disease is a left ventricular obstruction resulting in hypertrophy. Patterns of left ventricular hypertrophy include asymmetric septal, concentric, reverse septal, and apical. Among these, apical pattern—the pattern seen in our case, is the less known variant. Apical hypertrophic obstructive cardiomyopathy (AHOCM) is a rare form of hypertrophic cardiomyopathy more prevalent in men than women. AHOCM presents with increased wall thickness of the left ventricle (LV) and inverted T-wave as seen in the image below. Among young people, mostly young asymptomatic student-athletes, AHOCM increases the risk of sudden cardiac death. Our patient is a 71-year-old female with a history of hypertension, gastric reflux disease, and rheumatoid arthritis presented with epigastric pain described as “belt tightening.” She had a family history of coronary artery disease, heart attack, and unexpected deaths. AHOCM often imitate other conditions such as apical cardiac tumor and LV apical thrombus. Therefore, it is imperative that accurate diagnostics tools are implemented to rule out other differentials. Although AHOCM is treatable and consistent with normal longevity, timely and accurate diagnosis is imperative. In the case of our patient who presented with myocardial ischemia and monomorphic ventricular tachycardia, it was timely and accurate diagnoses and treatment that prevented what would have otherwise been a fatal outcome. Management options include heart failure symptoms management, betablockers, AICD implant (primary and secondary prevention), genetic counseling, and close clinical follow up. An annual routine re-evaluation to reassess LV morphology and heart failure symptoms is recommended. Our patient received an ICD, which remains the primary prevention, before discharge. Based on our patient’s family history, she was referred to genetic testing and family counseling. The case highlights the importance of obtaining a thorough patient's history as part of our initial evaluation. Family and past medical history is especially pertinent in curating a narrowed differential list. The Journal of the American College of Cardiology recommends that all AHOCM patients and families receive systemic genetic counseling especially before planned conception. Additionally, screening is also recommended for first-degree and close relatives.
