16 Jun - Hypertrophic Cardiomyopathy and Abnormal Vaginal Bleeding

Coindidenatl admission with abnormal uterine bleeding and newly diagnosed hypertrophic cardiomyopathy.  Probably unrelated?  Possibly not - this study describes functional vWF deficiency in patients with HCM and associated spontaneous bleeding events.  Hmm.

Hypertrophic cardiomyopathy is reviewed in this JAMA article.  Myosin heavy chain, troponin T, and myosin binding proteins are all described to be mutated in HCM - mode of inheritance is autosomal dominant.  This patient presented with evidence of LVOT obstruction, but only 25% of HCM patients have obstructive physiology.  Given this, murmur may be absent in the majority of patients with this disease.  To better differentiate the HCM murmur from other systolic murmurs, some maneuvers can be attempted (in general, things that decrease LV filling will increase HCM murmur):

Valsalva: increases HCM
Standing: increases HCM
Hand Grip: decreases HCM

Found this neat quiz for working up murmurs online - answers are in the back.

Management consists of preventing sudden cardiac death in high risk individuals, treatment of heart failure symptoms (possibly surgical myomectomy) and management of A-fib which is a common comorbid comdition.

With regards to the abnormal menstrual bleeding in this case, one should be aware of the basics of a primary care approach to this condition.  First - rule out pregnancy.  Second - screen by hx and exam for signs or symptoms consistent with PCOS, other hormone disorders, or bleeding disorders like vWF deficiency.  Any uterine bleeding in a postmenopausal woman should worry you for endometrial carcinoma.