Sudden Death (SD) and hypertrophic...

Sudden Death (SD) and hypertrophic cardiomyopathy (HCM) –Attempt of risk stratification

84th Annual Scientific Meetingof the Aerospace Medical AssociationMay 12-16, 2013Sheraton Chicago Hotel & Towers, Chicago

Dr. med. Franz H. HauerFlugmedizin Oberkassel (Düsseldorf)

Flugmedizinischer Sachverständiger Klasse 1Senior Aviation Medical Examiner (AME-FAA)

Innere Medizin - KardiologieEuropean Cardiologist - FESC

Flugmedizin – VerkehrsmedizinHypertensiologe® DHL

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Disclosure Information

84th Annual AsMA Scientific MeetingFranz H. Hauer

I have no financial relationships to disclose.

I will not discuss off-label use and/or investigational use in my presentation.

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Hypertrophic Cardiomyopathy (HCM)

Hypertrophic Cardiomyopathy (HCM) is a relatively common primary heart

disease

and quite often the cause of sudden cardiac death (SCD)

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

DefinitionDefinition Risk Faktors

Case Report

Examination

Requirements of ICAO

Results

Proposal for special issuance

.

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Definition

Absence of another cardiac disease producing leftventricular hypertrophy (LVH)

Exclusion of Athlete´s heart

Autosomal dominant mutation

Prevalence of 0.2 % (i.e. 1:500) in the general population

Echocardiography: septal thickness more than 15 mm, 13 - 14 mm are

considered as borderline if there exists a family history of hypertrophic

cardiomyopathy or unexplained sudden cardiac death (SCD)

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Prevalence

Prevalence of 0.2 % (i.e. 1:500) in the general population

Estimated frequency seems much higher than the occurence in cardiologic

practices

Affected persons mostly remain unidentified, in most cases symptom free and

without shortened life expectancy (Guideline 2011 ACCF/AHA)

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

DefinitionDefinition

Risk Faktors Case Report

Examination

Requirements of ICAO

Results

Proposal for special issuance

.

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Major Risk Factors

Cardiac arrest (ventricular fibrillation)

Sustained ventricular tachycardia (sVT)

Non-sustained ventricular tachycardia (nsVT)

Septal thickness > 30 mm

Family history of sudden cardiac death (SCD)

Syncope

Abnormal blood pressure (BP) under exercise

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Potential Risk Factors

Left ventricular outflow tract (LVOT)

Resting gradient more than 33 mmHg;

5 mmHg increase doubles the risk of

sudden cardiac death (SCD);

(NB: after myektomy very low rates of sudden cardiac death were

seen)

LGE (Late Gadolinium Enhancement) in CMR (Cardio-MRI):

Represents fibrosis and scarring; LGE has been associated with nsVT

and ventricular ectopy, but not with sudden cardiac death (SCD)

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Potential Risk Factors

Genetic Mutation

More than 500 mutations in 14 genes are known.

In the european collective mutations can be found in

80% in both major genes MYH7 und MYBPC3

Atrial fibrillation (AFIB)

AFIB generally is an important cause of severe symtoms as for instance stroke and

heart failure

Factors for development are age, heart failure, size and volume of left atrium (LA)

AFIB is seldom seen in patients below 30 years of age

In some cases AFIB is not associated with symptoms, but is often poorly tolerated

in others

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

DefinitionDefinition

Risk Faktors

Case Report Examination

Requirements of ICAO

Results

Proposal for special issuance

.

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Case Report

37 y/o airline pilot

Non-smoker

height 189 cm, weight 81 kg, Body-Mass-Index 22,7 kg/qm

Free of symptoms, active sportsman

No cardiac risk factors

No medication

One of his uncles (father´s brother) died by a not identified heart disease

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

DefinitionDefinition

Risk Faktors

Case Report

Examination Requirements of ICAO

Results

Proposal for special issuance

.

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

ECG / Stress-ECG

ECG

Sinusrhythm, 77 beats/min, indifference typ, no alterations of T-

waves

Stress-Testing (bicycle)

Maximal load 225 Watt

Rise of frequency from 79 to 170 beats/min

Rise of blood pressure from 128/73 to 172/84 mmHg

no alterations of T-waves, no rhythm disturbances

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

ECG (resting)

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Echocardiography

Results

normal left ventricular enddiastolic diameter (LVEDD)

No wall motion abnormalities

No SAM (Systolic Anterior Movement), Mitralinsufficiency I°

normal systolic pulmonary pressure

Septal thickness 24 mm , no pressure gradient in left ventricular

outflow tract (LVOT) ,under exercise not more than 6 mmHg

normal size of left atrium (LA)

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Echocardiography

Stress echocardiography

Maximal load 175 Watt

Flow velocity in LVOT not more than 2,5 m/s (i.e. 25 mmHg

maximum)

No SAM unter maximal effort, no signs of obstruction

Conclusion

Completely normal findings

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

CMR (Cardio-MRI)

Normal enddiastolic diameter (LVEDD)

No wall motion abnormalities

Marked midventricular septal hypertrophy of 21 mm

Normal size of left atrium (LA)

No enlargement of right ventricle with normal function

Normal size of right atrium (RA)

No heart valve defects, no pericardial effusion

No apical aneurysm

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Adenosin-Perfusion-Scan

No perfusion abnormalities resting and under exercise

Late Gadolinium Enhancement:

patchy contrasting agent enrichement in the area of the hypertrophic septum

Conclusion

normal systolic function

No signs of ischemia

According CMR-Criteria: hypertrophic

non-obstructive cardiomyopathie (HNCM)

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Myocardial Biopsy

9 biopsies from the right-ventricular septum to assess morphological changes

Histologic Findings

moderate hypertrophy of the heart muscle fibers

focally marked fibrosis of the endocard

no specific findings for the diagnosis of cardiomyopathy

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Cardiopulmonary (metabolic) Testing

Reaching the necessary exercise level

No ventilatory limitation, good oxygen absorption

normal PO2 resting and under exercise

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Reveal-Recorder

Results

Normal findings

One ventricular, some premature ventricular beats

No atrial fibrillation (AFIB)

No ventricular tachycardia (VT)

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Reveal-Recorder

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

DefinitionDefinition

Risk Faktors

Case Report

Examination

Requirements of ICAO Results

Proposal for special issuance

.

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Requirements of ICAO

Manual of Civil Aviation Medicine (Doc 8984-AN/895), 3rd.Edition 2012

Blood Pressure Response normal

no VT

no family history of Sudden Death (SCD)

IVS < 25 mm

OML-Operation

AFIB paroxysmal or systemic is disqualifiing

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

DefinitionDefinition

Risk Faktors

Case Report

Examination

Requirements of ICAO

Results Proposal for special issuance

.

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Results

Normal exercise test without electrical instability or fall in BP (which may be

predictive of SCD)

No ventricular tachycardia (VT)

No atrial fibrillation (AFIB) (Circulation 2001, 104:2518 ff.)

No family history of sudden cardiac death (SCD)

IVS (interventricular septum) < 25 mm

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Results

CMR confirms diagnosis and shows LGE

Research of main risk factors is negative

No LA dilatation

No outflow tract gradient

genetic Screening (MYH7 und MYBPC3)

actual: mutation in gene MYBPC3

(Myosin-Binding Protein Typ 3,

heartspecific), hybrid pattern;

No changes in MYH7 (Myosin,heavy chain 7)

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Statistics

Risk of sudden cardiac death in the general population is approximately

1% (< 0,5% - 1,5%>)

55% of the whole population with HCM show no maior risk factors

Regarding these data the mortality of this group can be compared with the

mortality of the normal population

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

DefinitionDefinition

Risk Faktors

Case Report

Examination

Requirements of ICAO

Results

Proposal for special issuance

.

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Proposal for Special Issuance(VO(EU) 1178/2011 , Acceptable Means of Compliance and Guidance Material to Part-MED (EC) No 216/2008)

TML (six months)

OML-Operation

Holter-Monitoring or data of implanted Reveal-Recorder every six months

CMR (Cardio-MRT) every two years

84th AsMA Annual Scientific Meeting, Chicago May 12-16, 2013 Dr. med. Franz H. Hauer, Düsseldorf, Germany

Routine Examination (yearly)

Resting ECG

Stress Testing (bicycle)

Echocardiography with determination of outflow tract gradient

24-hour Holter Monitoring or Data of Reveal-Recorder

Lab findings including common risk factors

Dr. med. Franz H. HauerFlugmedizin Oberkassel (Düsseldorf)

Flugmedizinischer Sachverständiger Klasse 1Senior Aviation Medical Examiner (AME-FAA)

Innere Medizin - KardiologieEuropean Cardiologist - FESC

Flugmedizin – VerkehrsmedizinHypertensiologe® DHL

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