activity disclaimer3 learning objectives 1. suspect hypertrophic cardiomyopathy (hcm) in patients...

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Cardiomyopathies

CPT Megan Mahowald, MD

ACTIVITY DISCLAIMERThe material presented here is being made available by the American Academy of Family Physicians for educational purposes only. Please note that medical information is constantly changing; the information contained in this activity was accurate at the time of publication. This material is not intended to represent the only, nor necessarily best, methods or procedures appropriate for the medical situations discussed. Rather, it is intended to present an approach, view, statement, or opinion of the faculty, which may be helpful to others who face similar situations.

The AAFP disclaims any and all liability for injury or other damages resulting to any individual using this material and for all claims that might arise out of the use of the techniques demonstrated therein by such individuals, whether these claims shall be asserted by a physician or any other person. Physicians may care to check specific details such as drug doses and contraindications, etc., in standard sources prior to clinical application. This material might contain recommendations/guidelines developed by other organizations. Please note that although these guidelines might be included, this does not necessarily imply the endorsement by the AAFP.

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DISCLOSUREIt is the policy of the AAFP that all individuals in a position to control content disclose any relationships with commercial interests upon nomination/invitation of participation. Disclosure documents are reviewed for potential conflict of interest (COI), and if identified, conflicts are resolved prior to confirmation of participation. Only those participants who had no conflict of interest or who agreed to an identified resolution process prior to their participation were involved in this CME activity.

All individuals in a position to control content for this session have indicated they have no relevant financial relationships to disclose.

The content of my material/presentation in this CME activity will not include discussion of unapproved or investigational uses of products or devices.

CPT Megan Mahowald, MDPhysician/Hospital Medicine Fellow, Department of Family Medicine, Womack Army Medical Center (WAMC), Fort Bragg, North Carolina

Dr. Mahowald is a Captain in the U.S. Army. She earned her medical degree from the Uniformed Services University of the Health Sciences in Bethesda, Maryland, and completed a family medicine residency at Madigan Army Medical Center in Tacoma, Washington. She is a first-year hospital medicine fellow at WAMC. She earned a master’s degree in education and continues to pursue her dual interest in medicine and education by creating, implementing, and improving the inpatient medicine curricula for the WAMC Family Medicine Residency Program and the hospital medicine fellowship program.

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Learning Objectives1. Suspect Hypertrophic cardiomyopathy (HCM) in patients with

certain history, physical findings, and ECG abnormalities.

2. Screen for cardiomyopathy, in accordance with current clinical guidelines.

3. Include genetic counseling during evaluation of patients with familial inheritance.

4. Initiate appropriate medical therapy in patients with the obstructive form of HCM.

Additional Learning Objectives:• Understand the various methods for classification

of cardiomyopathy• Recognize, evaluate, and treat the various types

of cardiomyopathy• Initiate a work-up for underlying etiology of

cardiomyopathy • Counsel families on genetic components of

cardiomyopathy, available genetic testing, and completion of surveillance

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Audience Engagement SystemStep 1 Step 2 Step 3

Associated Session

• (PBL) Cardiomyopathies

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AES Question #1

Which of the following is the appropriate method for classification of cardiomyopathies?A. The MOGE(s) nomenclature

B. By the underlying cause

C. By morphology and hemodynamic effect

D. Whatever my cardiologist says…

E. All of the above

CARDIO MYO PATHY(heart) (muscle) (disease)

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CARDIO MYO PATHY(heart) (muscle) (disease)

1. 1995 World Health Organization Classification

2. 2006 American College of Cardiology (ACC)/American Heart Association (AHA)

3. 2008 European Society of Cardiology (ESC)

4. 2013 MOGE(s) Classification World Health Organization

CARDIO MYO PATHY2008 ESCFamilial vs Non-familial

•Dilated

•Hypertrophic

•Restrictive

•Arrhythmogenic RVC

•Arrhythmogenic CM

•Unclassified

1995 WHO/ISFC•Dilated

•Hypertrophic

•Restrictive

•Arrhythmogenic

•Unclassified

2006 ACC/AHA•Primary

-Genetic

-Mixed

-Acquired

•Secondary

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MOGE(s)

• 2013 WHO

• Based on TNM staging system

Example:MH OH GAD EG-MYBPC3[IVS16-1G>A] SB-II

Eloisa Arbustini et al. JACC 2014;64:304-318v

CARDIO MYO PATHY

Jorge Muniz, Medcomic.com

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Case One: Mr. Lou E. Fraction35 year old male who

presents to the ED with 2 weeks of progressive shortness of breath with exertion and new lower extremity edema. His dad died suddenly at age 40.

Case courtesy of Dr Andrew Dixon, Radiopaedia.org, rID: 10666

Dilated Cardiomyopathy

Echocardiogram courtesy of Ryan Flanagan, MD FAAP FACC

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Dilated Cardiomyopathy: Epidemiology

• 40 cases per 100,000 individuals

• 60% of childhood cardiomyopathies

• Most common indication for heart transplant worldwide

• 1 year mortality 25-50%, but 50% survival rate at 5 years

Case courtesy of Dr Hani Salam, Radiopaedia.org, rID: 10760

AES Question #2Case One: Mr. Lou E. Fraction

A CT demonstrates large, dilated right and left ventricles. A formal echocardiogram is ordered and pending. Which of the following questions should be specifically addressed with the patient? A. Recent preceding viral illness

B. Alcohol use

C. At least a 3 generation family history

D. Presence of multifocal joint pain

E. All of the above

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Dilated Cardiomyopathy: Causes

• Genetic Mutations

• Neuromuscular disorders

• Infection (Myocarditis)

• Autoimmune Diseases

• Peripartum Cardiomyopathy

• Toxins

• Nutritional deficiency

• Inborn errors of metabolism

• Drugs

• Endocrinopathies

Dilated Cardiomyopathy: Clinical Features

History

• Heart failure symptoms– Present in 80% of patients

• Palpitations and syncope

• Thromboembolic events

• Sudden death

Physical Exam

• Tachycardia, pedal edema, JVP

• Gallop or mitral regurgitation murmur

Case courtesy of Dr Hani Salam, Radiopaedia.org, rID: 10283

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Dilated Cardiomyopathy: Work-Up

For the diagnosis:• EKG• BNP and N-terminal BNP• Chest X-Ray • Echocardiogram • Cardiac MRI

For the etiology:• Endocrine labs• Infectious work-up• Tissue biopsy• Genetic testing EKG courtesy of https://lifeinthefastlane.com/ecg-library/dilated-cardiomyopathy/

Dilated Cardiomyopathy: Management

Pharmacologic

• β-blockers

• ACE-I/ARB

• Mineralocorticoid

• Ivabradine

• Neprilysin inhibitor

Non-Pharmacologic• Na and H2O

• Exercise

• Sleep-disorder breathing

• Heart Failure Team

Surgery• LVAD

• Transplant

Electrical Device• Pacer

• AICD

Specific Therapies?Specific Therapies?

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Case One (continued):

Patient eventually completes genetic screening and is found to have a mutation in the LMNA gene. He has two young daughters, ages 10 and 12.

What would you recommend for their evaluation?

Dilated Cardiomyopathy: Genetic Testing & Screening

Genetic Pathogenesis• 35% of cases with “idiopathic disease”

• All patterns of inheritance, but AD most common

• Oligogenic phenotype

• TTN and LMNA genes

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Dilated Cardiomyopathy: Genetic Testing & Screening

Genetic Pathogenesis• 35% of cases with “idiopathic disease”

• All patterns of inheritance, but AD most common

• Oligogenic phenotype

• TTN and LMNA genes

Screening and Surveillance • FH and clinical screening of 1st

degree family (EKG & echo)• Cardiomyopathy genetic panel• General Rule:

• every 1-2 years to age 20• every 2-3 years to age 40• every 3-5 years until age 80

AES Question #3Case One (continued):

Patient eventually completes genetic screening and is found to have a mutation in the LMNA gene. He has two young daughters, ages 10 and 12.

What would you recommend for their evaluation? A. Start surveillance when reach the age their father presented with

CMB. Discuss genetic testing to see if they are carriers of the LMNA

mutationC. An initial EKG and echocardiogram nowD. A & BE. B & C

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Peripartum Cardiomyopathy

Cardiomyopathy with a reduced ejection fraction, usually <45%, presenting toward the end of pregnancy or in the months after delivery in women without previously known structural heart disease


Risk Factors

• Age

• Race

• Preeclampsia and hypertension

• Multiple gestations

Features & Diagnosis• Post-partum (1wk),

rarely 2nd & 3rd tri• Signs of CHF• EKG – sinus tach• Elevated BNP and

TnT• Echocardiogram

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Treatment & Outcomes

• Similar to tx for systolic HF

• Bromocriptine (?)

• Anticoagulation (Class II/LOE C)

• Wearable defibrillators

• ≈45-70% recovery by 6 mo

• Variable recurrence with subsequent pregnancies

Case courtesy of Dr Henry Knipe, Radiopaedia.org, rID: 47443

HypertrophicCardiomyopathy

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AES Question #4:

Which of the following is true about hypertrophic cardiomyopathy?A. Affects 1 out of 500 peopleB. Predominantly a recessive trait mutationC. Primarily occurs in North American countriesD. Typically produces concentric hypertrophic

changes

Hypertrophic Cardiomyopathy: Epidemiology

• Most common heritable cardiomyopathy

• Affects 1 out of 500 people

• Autosomal dominant (50% are de novo mutations)

• Leading cause of sudden death among young athletes

• Diagnosis of exclusionCase courtesy of A.Prof Frank Gaillard, Radiopaedia.org, rID: 23727

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Hypertrophic Cardiomyopathy: Definition

• Exclude secondary causes of LVH

• Diastolic heart failure

• Wall thickness ≥15mm(≥13mm in 1st degree family members)

• Typically asymmetric, septal hypertrophy

• Difficult to distinguish from normal changes elite athletes

Imaging courtesy of https://radiologykey.com/

Hypertrophic Cardiomyopathy: Symptoms

Wide range of clinical manifestations:

• Asymptomatic

• Systolic murmur

• Atrial fibrillation

• Exertional dyspnea

• Pre-syncope/Syncope

• Sudden deathEKG courtesy of https://lifeinthefastlane.com/ecg-library/hcm/

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Hypertrophic Cardiomyopathy

Diagnosis

Family Screening Symptom Alleviation SCD Risk Stratification

Lifestyle Modification

Medications

Septal reduction therapy

Risk Calculators + Shared Decision Making

AICD placement

Hypertrophic Cardiomyopathy: Genetics

• Genetic cause only found in 34% cases

• All first-degree family members of HCM patients should undergo disease screening

• If no gene is identified: – Echo surveillance every 5 years starting at onset of puberty

– Increase to every 12-18 months if competing in sports

• Discontinue screening in 7th decade

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Case Two: Cadet V. Tack 20 yo female who collapsed during her summer ROTC training.

No known cardiac history. She received CPR and defibrillation on site with ROSC. She is following up with you in clinic.

Vitals: BP 110/80, HR 98 (sinus tach).

Exam: crescendo-decrescendo murmur, displaced PMI

EKG: Sinus tach, LVH, deep ‘dagger-like’ Q-waves in inferior and lateral leads.

Echo: Pronounced septal thickening (28mm) with no obstruction noted on resting echocardiogram

Sudden Cardiac Death

• Incidence of 1-2% per year• Risk Factors:

– History of cardiac arrest – Young age – LV wall thickness ≥30mm– Ventricular fibrillation or non-sustained vtach

• Most commonly due to heart failure and thromboembolism

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PRACTICE RECOMMENDATIONS• Avoidance of competitive sports (Class I/LOE C)

• ICD placement for secondary prevention (Class I/LOE B)

• ICD placement for primary prevention IF there is SCD in 1st degree FM from HCM or LV thickness >30mm or >1 episode of unexplained syncope (Class IIa/LOE C)

• ICD placement for primary prevention if pts with abnormal blood pressure response during exercise if risk factors are present (Class IIa/LOE C)


PRACTICE RECOMMENDATIONS:

• Routine ICD placement without indication of increased risk (Class III/LOE C)

• ICD placement to allow participation in competitive athletics (Class III/LOE C)

• ICD placement in pts with identified HCM genotype, but absence of clinical manifestations (Class III/LOE C)

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AES Question #5Case Two: Cadet V. Tack

20 yo female who collapsed during her summer ROTC training, subsequently found to have HCM on post-arrest work-up.

Which of the following would you recommend starting today?

A. A beta blocker, titrated to HR <90

B. A beta blocker, titrated to the maximum dose tolerated

C. Furosemide twice daily to prevent hypervolemia

D. Amioderone to prevent future arrhythmias

AES Question #6Case Two (cont): Cadet V. Tack

20 yo female who collapsed during her summer ROTC training, subsequently found to have HCM on post-arrest work-up.

She was told she might need a defibrillator, but wants to know your recommendations. What do you tell her?A. Yes, she survived cardiac arrest

B. Yes, so she can continue to participate in sports

C. No, not until a 48hr ambulatory EKG is completed to evaluate for arrhythmias

D. No, because her septum is <30mm

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RestrictiveCardiomyopathy

Case courtesy of Dr Gregor Savli, Radiopaedia.org, rID: 25137

Restrictive Cardiomyopathy:

• Diastolic dysfunction with right or left-sided heart failure

• Etiology varies by location

• Echo: normal systolic function and evidence of diastolic dysfunction with restrictive filling pattern

• Consider cardiac MRI

• Very difficult to treat

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Cardiac Amyloidosis

• Thickened heart walls without HTN

• Low voltage QRS despite thickened walls

• h/o carpal tunnel syndrome

• Constitutional sx

• Poor tolerance of HF rx

Cardiac Sarcoidosis

Cardiac Hemochromatosis

• Asymptomatic

• Otherwise healthy young or middle-age pts

• Conduction defects: RBBB or 3o heart block

• Arrhythmias: VT, VF, frequent PVCs

• May precede other organ involvement

• 15-20% of pts with HH

• CMR to quantify Fe

• Transferrin saturation >45%

• Serum ferritin above normal

• Reversible with tx

Cardiac Amyloidosis






Cardiac Sarcoidosis


• Asymptomatic










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Cardiac Amyloidosis






Cardiac Sarcoidosis


• Asymptomatic










Takotsubo’sSyndrome

Case courtesy of Dr Yune Kwong, Radiopaedia.org, rID: 29997

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Case Three: Mrs. Birken HartA 67-year old woman presents to the emergency department with 4 hours of

substernal chest pain. She is currently mourning the death of her husband, who died three weeks ago. Her initial TnT is 0.99.

EKG Courtesy of https://lifeinthefastlane.com/ecg‐library/tako‐tsubo/

AES Question #7Case Three: Mrs. Birken Hart

A 67-year old woman presents to the emergency department with 4 hours of substernal chest pain.

What is the most likely diagnosis?A. Coronary artery vasospasmB. STEMIC. Takotsubo syndromeD. Cocaine abuseE. Unstable angina

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Takotsubo Syndrome

Acute and usually reversible left ventricular dysfunction, EKG changes that mimic MI, and release of myocardial enzymes in the absence of obstructive coronary artery disease.

• Female predominance (90%)

• Mortality 6x higher in males

• Triggers-Emotional 27%-Physical 36%-None 28%

Case courtesy of Dr Gregor Savli, Radiopaedia.org, rID: 25090

Takotsubo Syndrome: Presentation & Prognosis

Presentation

• Chest pain

• Dyspnea

• Cardiogenic shock

• ST segment elevations

• T-wave inversions

• Elevated troponins

Prognosis

• Favorable

• Supportive treatment

• In-hospital mortality 1-7%

• May develop heart failure

• Rapidly resolve

• Follow-up at 3-6 mo

• Recurrence occurs

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Practice Recommendations• Dilated Cardiomyopathy:

– In pts with alcoholic cardiomyopathy, total abstinence from alcohol is recommended (Class I; LOE C)

– First degree relatives of pts with familial cardiomyopathy should undergo serial echocardiogram screening (Class I; LOE C)

• Peripartum Cardiomyopathy

– If LV function fails to normalize, pts should be counseled againstsubsequent pregnancies (Class I; LOE B)

– Guideline-directed medical therapy known to benefit pts with LV dysfunction and HF should be considered taking into account pregnancy and breast feeding status (Class I; LOE B)

Practice Recommendations• Hypertrophic Cardiomyopathy:

– A TTE is recommended in the initial evaluation of all patients with suspected HCM (Class I; LOE B)

– Evaluation of familial inheritance and genetic counseling is recommended as part of the assessment of patients with HCM (Class 1; LOE B)

– 24-hour ambulatory (Holter) electrocardiographic monitoring is recommended in the initial evaluation of patients with HCM to detect VT and identify patients who may be candidates for ICD therapy. (Class 1; LOE B)

– ICD is recommended in pts with documented cardiac arrest or hemodynamically significant VT (Class I; LOE B)

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Questions

Contact Information

Megan Mahowald, MD

Email: [email protected]

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Resources:1. Gianni M et al. Apical ballooning syndrome or takotsubo cardiomyopathy: a systematic review.

European heart journal (2006) 27, 1523-1529

2. Lyon A et al. Current state of knowledge on Takotsubo syndrome: a position statement from the task force on Takotsubo syndrome of the heart failure association of European Society of Cardiology. European journal of heart failure (2016) 18, 8-27

3. Muchtar E. et al. Restrictive cardiomyopathy genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circulation res. (2017); 121: 819-837

4. Geske J et al. Hypertrophic cardiomyopathy clinical update. J Am Coll Cardiol HF (2018) 364-75

5. Weintraub R et al. Dilated cardiomyopathy. Lancet (2017) 390: 400-414

6. Arany Z et al. Peripartum cardiomyopathy. Circulation. (2016); 133: 1397-1409

7. Gersh B. et al. 2011 ACCF/AHA guideline for diagnosis and treatment of hypertrophic cardiomyopathy. Jour Am Car (2011) 58; 25

8. Bozkurt, et al. Current diagnostic and treatment strategies for specific dilated cardiomyopathies. Circulation. 2016; 134: e579-e646

activity disclaimer3 learning objectives 1. suspect hypertrophic cardiomyopathy (hcm) in patients...

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