An 85–year–old woman with hypertension, coronary artery disease (angioplasty and stent in 1998), peripheral vascular disease presented to the emergency room after a mechanical fall at home. The patient had a sudden fall and hit her head on the refrigerator door. There was no loss of consciousness, and no dizziness, vertigo, palpitations, abdominal pain, nausea or vomiting. She was not doing any strenuous activity prior to the incident. She has had other falls recently but without trauma. Her medications were amlodipine, atenolol, hydrochlorothiazide, lisinopril, atorvastatin, and clopidrogel. The patient did not have any family history of cardiac disease, heart attacks at an early age, or sudden deaths. In the ED, vital signs were stable. On the rest of her physical exam, findings were significant for dry mucus membranes, a scalp laceration that was stapled. Her cardiovascular exam revealed a regular rate and rhythm but a 3/6 holosystolic murmur that had not been previously documented. in her past medical records. The rest of her physical exam was within normal limits. Given her presentation of unexplained recurrent falls and new murmur, a trans–thoracic echocardiogram was performed that showed a hyper dynamic ejection fraction, concentric hypertrophy, and dynamic obstruction in the mid–cavity consistent with hypertrophic cardiomyopathy (HCM). A previous transthoracic echocardiogram, 4 years earlier, was within normal limits. With this new diagnosis, it was speculated that her recurrent falls may have been due to obstructive HCM in the setting of vasodilating agents and mild dehydration. Based on this, her outpatient medication regimen was revised. Amlodipine was stopped. Hydrochlorothiazide and lisinopril doses were increased, and atenolol dose was increased. She remained asymptomatic and was discharged home.
Although HCM is most often a disease of young adults, it has been previously reported in older individuals. Studies on the disease expression of HCM reveal that there may be an age–related penetrance in the HCM phenotype so that left ventricular hypertrophy can occur later in life. Therefore, a normal echocardiogram earlier if life does not preclude the diagnosis and disease onset later in life, particularly in those with a positive Family history. In Framingham study, 2% of adults with mean age of 60 had unexplained left ventricular hypertrophy. Percentage of those with flow obstruction was not identified and time course for its development is not known.
This patient’s initial presentation of recurrent falls led to a repeat echocardiogram that revealed evidence of obstructive HCM developed over a short four–year period. This lends evidence that HCM, in fact, does show penetrance that may be age–related and establishes a time course for its development.