Table 1.

Patients with Left Ventricular Hypertrophy: Important Elements of a Family History

Known cardiac diagnoses (request records) Hypertrophy may be reported as an “enlarged”, “strong”, “thick”, or even “athletic” heart Age of onset Symptoms in a young, athletic person is typical of HCM Onset before puberty suggests multiple genetic variants may be present Chest pain Particularly pain that improves during a lengthy exercise warm-up Arrhythmia symptoms Palpitations, syncope or presyncope, particularly with exertion Stroke (particularly at unusually young ages), abnormal blood clotting Valve problems, heart murmurs Heart failure symptoms “Exercise-induced asthma” is a common misdiagnosis, particularly in children Medications Beta blockers, calcium-channel blockers, and antiarrhythmic agents are frequently taken for HCM Heart-related surgeries and procedures (request records) Includes catheterization, endocardial biopsy, myectomy, mitral valve replacement, cardiac transplant Cardiac devices Implantable cardioverter-defibrillators (ICDs), pacemakers Sudden cardiac death (request autopsy reports) Particularly concerning < age 35 or in the documented absence of coronary artery disease Obtain further details regarding deaths labeled as “heart attack” Accidental/Unexpected death, particularly in young individuals Single-car accidents in which the family member was the driver, drownings, SIDS deaths Genetic testing (request laboratory results to verify interpretation) Screening echocardiograms performed on at-risk family members (request records)

Features relevant to differential diagnosis

Learning disabilities/mental retardation Noonan syndrome, Danon disease Paresthesias Fabry disease, transthyretin amyloidosis Renal disease Fabry disease, immunoglobulin light chain (primary) amyloidosis Skeletal muscle weakness Pompe disease, Danon disease, mitochondrial disorders Liver pathology, skin bronzing Hereditary hemochromatosis Facial dysmorphology Noonan syndrome