Medical Student Edward Via College of Osteopathic Medicine: Virginia Campus Blacksburg, Virginia
Introduction: Familial cardiomyopathy was suspected in a young family presenting to a village clinic in Punta Cana, Dominican Republic in October 2023 due to key signs and symptoms in 6 children. The mother reported that her half-sister had suddenly died in her sleep at the age of 23, but was unaware of any family history of disease as there is no regular access to healthcare. This case is unique, as six children in the same family were identified with signs of Hypertrophic Obstructive Cardiomyopathy (HOCM) by point of care ultrasound (POCUS) and physical examination, as other resources were limited.
Case Study: The 13 year old male reported epistaxis, dizziness, headache, and chest pain, especially during periods of exertion. The patient also had distended jugular veins in the neck with valsalva, pulsatile carotids, and a 3/6 systolic murmur, more prominent with standing. A point-of-care cardiac ultrasound was performed, indicating suspected mitral regurgitation, thickened interventricular septum, and left ventricular hypertrophy, highly suspicious for hypertrophic cardiomyopathy.
Current HOCM treatments include pharmacological therapy, implantable cardiac defibrillators, or myomectomy to reduce the risk of a left ventricular outflow obstruction. Proper treatment according to current medical guidelines may increase 10-year survival to 94%, representing an incredible improvement in longevity and quality of life. Without treatment, these children could suffer a major cardiac event. Coordinated care with a local family medicine physician and cardiologist was established for further evaluation and treatment including an electrocardiogram, echocardiogram, and whole exome sequencing.
Discussion: This case report further highlights the benefit of increased utility of POCUS and expanded osteopathic physical exam skills in low resource environments to improve quality of care. Additionally, many gene alterations have been implicated in HOCM, with most being related to sarcomeric proteins. We hypothesize that the family carries an autosomal dominant variant of the MYH7 gene, one of the most common genes to be mutated in HOCM.
Patients with HOCM are at risk for a sudden cardiac event, as most patients have an arrhythmic event and children have a higher mortality rate of 6%, compared to symptomatic adults at 1-3% annually. HOCM is considered to be one of the most common causes of sudden cardiac death in those under the age of 35, and all symptomatic children have a higher likelihood of childhood mortality. Recent studies indicate that clinically significant HOCM can present in childhood and this case supports recommendations for family screening by the European Society of Cardiology guidelines.
