Lethal Hypertrophic Cardiomyopathy
Incidence of sudden cardiac death (SCD) is 1%/year in cohorts with hypertrophic cardiomyopathy (HCM), but this estimate presumes arrhythmic cause and misses occult cases dying before diagnosis. In our 11-year countywide postmortem study, HCM meeting pathologic, clinical, or genetic criteria was associated with autopsy-confirmed arrhythmic cause of sudden death, accounting for 2% of SADs up to age 90, highest in cases <35 years old. Since 85% of cases were undiagnosed before pSCD, the true burden of HCM-related sudden death may be substantially underestimated.
Full publication: Countywide burden, pathology, and genetics of lethal hypertrophic cardiomyopathy: from the POST SCD study
Lethal Mitral Valve Prolapse
In collaboration with Dr. Francesca Delling, we investigated the characteristics of mitral valve prolapse (MVP) in our comprehensive, county-wide, post-mortem study of presumed SCD in San Francisco County. MVP prevalence was at least 4% of SADs, but one-half were missed on autopsy. Monoleaflet MVP was often underdiagnosed post-mortem. Compared with young cases of SCD, lethal MVP in older cases of SCD did not consistently have bileaflet anatomy, replacement fibrosis, or MAD.
Full publication: Antemortem and Post-Mortem Characteristics of Lethal Mitral Valve Prolapse Among All Countywide Sudden Deaths
Sudden Neurologic Death
We previously found that over 5% of all apparent SCDs are due to a neurologic cause, a condition we have coined Sudden Neurologic Death. In partnership with UCSF neurologist Dr. Anthony Kim and NYU epileptologist Dr. Orrin Devinsky we are characterizing the risk factors and underlying causes of these SNDs, including fatal strokes, intracranial hemorrhages, and Sudden Unexpected Death in Epilepsy (SUDEP).
Upon characterizing the true burden of SUDEP within apparent SCDs, we found that SUDEP cases had lower levels of cardiac pathology than sudden arrhythmic deaths (SAD). Cardiac pathology was similar between SUDEP cases and trauma and epilepsy control cases.
For more details, please refer to our publication, Incidence of cardiac fibrosis in SUDEP and control cases.