Hypertrophic Cardiomyopathy

#med #disease #y2023

Presentation :

Most patients are asymptomatic but may present with HF, palpitations, syncope, or sudden cardiac death (SCD)
Physical exam:
- Carotid pulse Rises briskly and then declines, followed by a second rise (pulsus bisferiens)
- Ejection-quality murmur usually best heard at left lower sternal border
  - Valsalva maneuver increases murmur intensity
  - Does not radiate to carotids

- genetically inherited in an autosomal dominant pattern
HF symptoms are attributable to abnormal diastolic dysfunction and dynamic left ventricular outflow tract (LVOT) obstruction

ECG
- Commonly shows LV hypertrophy and left atrial enlargement.
- Deeply inverted, symmetric T waves in leads V3 to V6 are present in the apical hypertrophic form of the disease (mimics ischemia).
Echocardiography:
- Determines degree and distribution of hypertrophy
- and the degree of LVOT obstruction and mitral regurgitation.
48-Hour ambulatory ECG monitoring is performed to evaluate for arrhythmias.
All first-degree relatives of patients with HCM should undergo ECG and echocardiography plus genetic counseling (if sarcomeric mutation is identified in index case).

Patients with HCM should avoid competitive sports and intense isometric exercise
β-Blockers are first-line agents for patients with an EF ≥50%, dyspnea, and/or chest pain.
- Calcium channel blockers (verapamil or diltiazem) may be substituted for β-blockers if intolerant
- Disopyramide may be added if significant symptoms related to LVOT obstruction remain.
ACE inhibitors are used only if systolic dysfunction is present
Anticoagulate all patients with AF regardless of CHA2DS2-VASc score
Surgery or septal ablation is indicated for patients with an outflow tract gradient of >50 mm Hg AND continuing symptoms despite maximal drug therapy.
Patients with previous sudden cardiac death or sustained VT should receive an ICD for secondary prevention.