Hypertrophic Cardiomyopthy (Complications (Atrial Fibrillation, Heart…
Genetic mutations of sarcomere proteins
Hypertrophy not explained by something else
Presence of genetic mutation related to HCM
Sudden Cardiac Death
Ouflow Tract stenosis
How does HCM kill?
Who is at risk of SCD?
Clinical risk score (O Mahony 2015)
744 patients 12 % died over 8 years, 51% SCD 45 +- 20 y, 36% HF 56 +-19y, 13% stroke Afib 73 +- 14 y (maron 2000)
Who is at risk of heart failure?
How can we detect preclinical HCM in patients?
ML ECG screening (Ramnah 2015)
ML genetic analysis missense variations (Jordan 2011)
ML echo assessment (Narula 2016)
Define a continuous scale of HCM phenotypes
ML ECG phenotypes related to risk score (Lyon 2018)
600 echo studies: found heterogeneous hypertrophy 28% had hypertrophy in one segment only 38% had three or more segments
Are there any disease pathways whereby one phenotype leads to another (and possibly ends in SCD or HF)?
110 patients with mutations in myosin binding protein C gene, protein truncating variants were associated with earlier disease manifestation and more frequent medical intervention (Erdmann 2001)
Sources of data