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Hypertrophic Cardiomyopathy pp 9–21Cite as

Natural History of Hypertrophic Cardiomyopathy

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Abstract

Hypertrophic cardiomyopathy (HCM) is estimated to affect 1:500 individuals. It may develop at any age but typically develops during adolescence or early adulthood. Mortality rates in HCM are lower than initially suspected, especially in treated patients, but remain higher than those in the general population. Although the majority of HCM patients develop few or no symptoms, a significant minority will develop advanced heart failure, atrial fibrillation, or stroke. The presence of left ventricular outflow tract obstruction, development of systolic dysfunction (i.e., end-stage HCM), and possibly apical aneurysms has been associated with worse outcomes.

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Authors and Affiliations

  1. Division of Cardiology, Peter Munk cardiac Centre, Toronto General Hospital, Toronto, ON, Canada

    Arnon Adler, Qin Li & Harry Rakowski

  2. Department of Cardiology, Papworth Hospital NHS Foundation Trust, Cambridge, UK

    Lynne Williams

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  1. Arnon Adler
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  2. Qin Li
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  3. Lynne Williams
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  4. Harry Rakowski
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Correspondence to Harry Rakowski .

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Editors and Affiliations

  1. Westchester Medical Center, Valhalla, NY, USA

    Srihari S. Naidu

Posttest

Posttest

  1. 1.

    What is true regarding HCM disease penetrance and progression?

    1. A.

      Left ventricular wall thickness continues to progress throughout lifetime in most patients.

    2. B.

      A patient who has not developed signs of HCM by the age of 30 is almost certainly going to remain phenotype negative and can be discharged from follow-up.

    3. C.

      Most patients who survive to their sixth decade will develop end-stage HCM.

    4. D.

      Almost all patients who carry the familial mutation will develop at least some signs of the disease during their lifetime.

    5. E.

      Most patients who develop signs of HCM do so during adolescence or early adulthood.

    Answer: E. Although most HCM patients first develop signs of the disease during adolescence or early adulthood, some will do so only later in life. No recommendation regarding the exact age after which follow-up can be discontinued is available, but development of HCM after the age of 30 is certainly possible. Wall thickness usually plateaus after the initial spurt and does not continue to progress with aging in most cases. End-stage HCM develops in <5% of patients. The exact disease penetrance in HCM is unknown, but it is highly unlikely to approach 100%.

  2. 2.

    What is false regarding mortality in patients with HCM?

    1. A.

      The annual incidence of sudden cardiac death in contemporary HCM cohorts is <1%.

    2. B.

      In infants diagnosed with HCM, HCM-related mortality is exceedingly low during childhood.

    3. C.

      Sudden cardiac death remains a leading cause of death, especially in young HCM patients.

    4. D.

      HCM patients have a higher mortality rate than in the general population, but this is attenuated with age.

    5. E.

      Contemporary therapies (e.g., ICD implantation, heart transplantation) have contributed to the declining mortality rates in HCM patients.

    Answer: B. The prognosis of patients diagnosed during their first year of life is relatively poor with a 19% risk of death or transplant within 1 year of diagnosis. In the overall HCM population, however, mortality rates have declined over the past few decades, partially due to the advent of contemporary therapies and partially due to inclusion of milder cases in HCM cohorts. Current annual SCD rates are below 1% although it remains an important cause of death, especially in the young. The standardized mortality rate in older HCM patients approaches that in the general population.

  3. 3.

    What is true regarding myocardial fibrosis as demonstrated by late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR)?

    1. A.

      It develops in <20% of patients with HCM.

    2. B.

      In about half of the cases, it is extensive (>20% of myocardial mass).

    3. C.

      It is associated with lower incidence of sudden cardiac death.

    4. D.

      Only a minority of HCM patients with LGE on CMR will develop end-stage HCM.

    5. E.

      LGE is not regarded as a good surrogate for myocardial fibrosis in HCM patients.

    Answer: D. Although myocardial fibrosis probably plays a significant role in the development of systolic dysfunction, most patients with LGE will not develop end-stage HCM. LGE is found in 40–70% of HCM patients and in most cases is mild to moderate (<20% of myocardial mass). It has been associated with increased risk of sudden death (see Chap. 14) and is regarded as a good surrogate for myocardial fibrosis.

  4. 4.

    What is true regarding atrial fibrillation in HCM?

    1. A.

      The prevalence of AF in HCM is similar to that in the general population.

    2. B.

      Because HCM patients with AF are usually younger and have less comorbidities than patients without HCM who have AF, anticoagulation is not necessary in the majority of cases.

    3. C.

      AF has been associated with increased mortality in the general population but not in patients with HCM.

    4. D.

      Stroke rates in HCM patients with AF do not increase with age.

    5. E.

      Female gender is a risk factor for the development of AF in patients with HCM.

    Answer: E. Age, female gender, left atrial size, and higher NYHA class are all important risk factors for AF in HCM. The prevalence of AF in patients with HCM is around 20%, much higher than in the general population. The CHA2DS2-VASc score is not regarded as an accurate method for estimating stroke risk in HCM and anticoagulation is recommend for all patients who do not have a contraindication.

  5. 5.

    What is false regarding an HCM patient who develops shortness of breath?

    1. A.

      NYHA class III–IV symptoms develop in the minority of patients.

    2. B.

      Atrial fibrillation is an important cause for the development of new symptoms in HCM patients.

    3. C.

      The majority of HCM patients with NYHA class III–IV symptoms have LVOTO.

    4. D.

      NYHA class III–IV symptoms are a bad prognostic sign.

    5. E.

      Coronary artery disease should be ruled out in older patients who develop new symptoms.

    Answer: C. Advanced shortness of breath (NYHA class III–IV) is most commonly attributed to diastolic dysfunction and only in the minority of cases to LVOTO (in 22% according to one study). That being said, septal reduction therapy may alleviate both obstruction and diastolic dysfunction in symptomatic patients. In a patient with new onset shortness of breath, AF and CAD should be ruled out as these are important causes for symptoms. Patients with advanced symptoms have worse prognosis with a 6-year risk of death or heart transplant of 36% according to one study. Luckily, less than 25% of patients develop advanced symptoms with the youngest patients least likely to do so.

  6. 6.

    What is false regarding a patient who is found to have a left ventricular ejection fraction <50% in the absence of coronary artery disease?

    1. A.

      His prognosis is significantly worse than an HCM patient without systolic dysfunction.

    2. B.

      Such a finding is uncovered in ≈ 20% of HCM patients.

    3. C.

      Myocardial fibrosis is thought to play an important role in the development of systolic dysfunction in this patient.

    4. D.

      Once systolic dysfunction is diagnosed, clinical deterioration is relatively rapid.

    5. E.

      If cardiac transplant is indicated, the survival posttransplant is better than in patients with ischemic heart disease.

    Answer: B. End-stage HCM , defined as LVEF <50% in the absence of non-HCM-related causes, occurs in <5% of patients. Data on this subgroup of patients is limited, but their risk of death or transplant is considerable (59% over 3.3 years of follow-up according to one publication). Although the time from HCM diagnosis to the development of systolic dysfunction is typically prolonged (> 10 years) once systolic dysfunction is detected deterioration is relatively rapid. On the positive side, survival posttransplant is comparable to that of other nonischemic cardiomyopathy patients and better than in patents with ischemic heart disease. Myocardial fibrosis is thought to play a major role in development of systolic dysfunction in HCM, and its burden is much higher in end-stage cases.

  7. 7.

    What is true regarding a patient with an LVOT gradient of 20 mmHg at rest and 60 mmHg postexercise?

    1. A.

      Advanced symptoms (NYHA class III–IV) are more likely to occur in this patient than in a patient without LVOT gradients even after provocation.

    2. B.

      The fact that he has no gradient at rest suggests SAM is not part of the mechanism leading to LVOTO.

    3. C.

      Such findings occur in <15% of HCM patients.

    4. D.

      Patients with LVOTO are at increased risk of SCD but not overall mortality.

    5. E.

      AF is unlikely to develop in this patient.

    Answer: A. LVOTO , defined as an LVOT gradient ≥30 mmHg at rest or after provocation, is a risk marker for development of advanced symptoms, mortality (including SCD, HCM-related, and overall mortality), and AF. LVOTO only after provocation occurs in ≈ 1/3 of patients. The mechanism of LVOTO in these patients is the same as in patients with significant gradients at rest.

  8. 8.

    What is true regarding a patient with hypertrophy isolated to segments distal to the papillary muscles?

    1. A.

      Such morphology is rare in Asian HCM patients.

    2. B.

      The thickened apex protects this patient from the development of an apical aneurysm.

    3. C.

      The finding of an apical scar in this patient invariably suggests coronary artery disease.

    4. D.

      The absence of basal septal hypertrophy suggests advanced fibrosis and wall thinning of these segments.

    5. E.

      This patient’s prognosis is favorable when compared with a patient with “reverse curvature” morphology.

    Answer: E. Apical HCM is associated with less morbidity and mortality than other types of HCM. These patients may develop, however, apical aneurysms in the absence of CAD. The reason for development of hypertrophy limited to the apical segments is unknown and is not due to “burnt out” basal segments. Most studies demonstrate it is more common in Asians.

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Adler, A., Li, Q., Williams, L., Rakowski, H. (2019). Natural History of Hypertrophic Cardiomyopathy. In: Naidu, S. (eds) Hypertrophic Cardiomyopathy. Springer, Cham. https://doi.org/10.1007/978-3-319-92423-6_2

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  • DOI: https://doi.org/10.1007/978-3-319-92423-6_2

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