Sudden Death (SD) and hypertrophic cardiomyopathy (HCM) Attempt of risk stratification 84th Annual Scientific Meeting of the Aerospace Medical Association May 12-16, 2013 Sheraton Chicago Hotel & Towers, Chicago Dr. med. Franz H. Hauer Flugmedizin Oberkassel (Düsseldorf) Flugmedizinischer Sachverständiger Klasse 1 Senior Aviation Medical Examiner (AME-FAA) Innere Medizin - Kardiologie European Cardiologist - FESC Flugmedizin Verkehrsmedizin Hypertensiologe DHL
Disclosure Information 84th Annual AsMA Scientific Meeting Franz H. Hauer I have no financial relationships to disclose. I will not discuss off-label use and/or investigational use in my presentation.
Hypertrophic Cardiomyopathy (HCM) Hypertrophic Cardiomyopathy (HCM) is a relatively common primary heart disease and quite often the cause of sudden cardiac death (SCD)
. Definition Risk Faktors Case Report Examination Requirements of ICAO Results Proposal for special issuance
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)
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)
. Definition Risk Faktors Case Report Examination Requirements of ICAO Results Proposal for special issuance
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
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)
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
. Definition Risk Faktors Case Report Examination Requirements of ICAO Results Proposal for special issuance
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
. Definition Risk Faktors Case Report Examination Requirements of ICAO Results Proposal for special issuance
ECG / Stress-ECG ECG Sinusrhythm, 77 beats/min, indifference typ, no alterations of Twaves 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
ECG (resting)
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)
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
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
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)
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
Cardiopulmonary (metabolic) Testing Reaching the necessary exercise level No ventilatory limitation, good oxygen absorption normal PO2 resting and under exercise
Reveal-Recorder Results Normal findings One ventricular, some premature ventricular beats No atrial fibrillation (AFIB) No ventricular tachycardia (VT)
Reveal-Recorder
. Definition Risk Faktors Case Report Examination Requirements of ICAO Results Proposal for special issuance
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
. Definition Risk Faktors Case Report Examination Requirements of ICAO Results Proposal for special issuance
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
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)
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
. Definition Risk Faktors Case Report Examination Requirements of ICAO Results Proposal for special issuance
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
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
Thank you for your attendance Dr. med. Franz H. Hauer Flugmedizin Oberkassel (Düsseldorf) Flugmedizinischer Sachverständiger Klasse 1 Senior Aviation Medical Examiner (AME-FAA) Innere Medizin - Kardiologie European Cardiologist - FESC Flugmedizin Verkehrsmedizin Hypertensiologe DHL