Post-assessment

Q1. What unexplained maximal left ventricular wall thickness measured at end diastole is consistent with a clinical diagnosis of hypertrophic cardiomyopathy (HCM)?

Q2. What is the approximate prevalence of HCM in the general population based on genetic population studies?

Q3. Which of the following statements is correct?

Q4. HCM is under-recognized – approximately what proportion of cases go unidentified?

Q5. What populations are most at risk of under-recognition of HCM? (Select all that apply)

Q6. Which of these symptoms are commonly occurring in HCM? (Select all that apply)

Q7. At what point is ambulatory ECG monitoring recommended to assess the risk of sudden cardiac death from HCM?

Q8. Which of these factors is not considered when assessing a patient’s risk for sudden cardiac death from HCM? (Select all that apply)

Q9. Owing to the genetic component of HCM, who should be screened for disease?

Clinical case using data from Labate et al., 2017

• A 72-year-old mild hypertensive woman was referred for evaluation of exertional dyspnea (NYHA III).
• ECG revealed sinus rhythm, left atrial (LA) dilation and left bundle branch block (LBBB).
• Rest transthoracic echocardiogram (TTE) revealed: left ventricular (LV) septal hypertrophy (interventricular septal thickness 16 mm) with normal LV function (LVEF 58%); absence of LV outflow tract (LVOT) obstruction at rest and after Valsalva maneuver (LVOT gradient: 7 mmHg); diastolic dysfunction (E/e´: 26); normal pulmonary pressures (PASP 30 mmHg).
• Chest X-ray, spirometry and laboratory tests were normal. The N-terminal pro B-type natriuretic peptide (NT-pro BNP) level was 699 ng/L

Q.10 What are the next steps to obtaining a diagnosis?

Clinical case using data from: Doctorian et al., 2017

• 53-year-old female
• Presented with chronic, progressive, chest pains, pre-syncope, and palpitations; initially brought on by exertion although frequency and occurrence increase to both activity and rest
• Past medical history notable for hypertension, recent stroke, and obesity
• Paternal grandfather suffered a sudden cardiac death
• First cardiac troponin-I was indeterminate at 0.3 ng/mL
• Electrocardiogram exhibited deep T wave inversions and met criteria for left ventricular hypertrophy
• Chest radiograph showed normal cardiac silhouette and no pulmonary congestion
• TTE showed demonstrated preserved ejection fraction (55% to 60%), grade 2 diastolic dysfunction (mild restrictive pattern), moderately dilated left atrium (63 mL volume), mildly elevated pulmonary artery systolic pressure (35 mmHg), and possible left ventricular aneurysm. Right atrial size and pressure, and right ventricular systolic function were within normal limits
• TTE showed no evidence of wall motion abnormalities, dynamic left ventricular outflow tract obstruction, or valvular disease, although the images were technically difficult to interpret, and the left ventricular apex was not well visualized
• Patient was noted to have several pre-syncopal episodes with non-sustained ventricular tachycardia (NSVT) during admission

Q11. As diagnosis was not definitive with initial TTE, what are the next steps? (Select all that apply.)

Clinical case using data from: Martìn et al., 2009

• 17-year-old male athlete with a regular and intensive training schedule had an electrocardiogram (ECG) as part of a pre-participation screening program
• Asymptomatic with no family history of SCD or HCM
• ECG revealed T-wave inversion and left ventricle hypertrophy and an echocardiogram revealed a septal thickness of 28 mm. There was no systolic anterior motion of the mitral valve or outflow tract obstruction, left atrial and left ventricle diameters were normal
• Holter monitoring and exercise stress test were normal

Q12. What is the next step of the diagnosis?

Clinical case using data from: Dahiya et al.

• 16-year-old boy found to have abnormal electrocardiogram (ECG)
• Had previously spontaneously recovered from a small muscular ventricular septal defect
• Transthoracic echocardiogram (TTE) was inconclusive
• Prescribed beta blockers
• Father has history of obstructive HCM, requiring transplant

Q13. What are the next steps?

• 19-year-old male
• Complaints of exertional dyspnea and shortness of breath while running for the bus
• Initially resolves itself but is becoming increasingly frequent
• Family history reports that the father died suddenly aged 38
• Prescribed beta-blockers

Q14. What is the next step?