Table 1

Patient Characteristics

Patient #1Patient #2Patient #3Patient #4Patient #5 (2)
Age4561414263
SexMaleFemaleMaleMaleMale
PhenotypeHypertrophic nonobstructiveApical-septal hypertrophicSevere concentric hypertrophySevere concentric hypertrophy with hypertrabeculationApical-septal hypertrophic with apical aneurysm
Clinical presentationRenal insufficiency, sudden cardiac deathEnzyme replacement therapyEnzyme replacement therapy, renal transplant, atrial fibrillation, CVAEnzyme replacement therapy, renal transplant, atrial fibrillationEnzyme replacement therapy, atrial fibrillation, ICD (primary prevention)
GLA mutationc.469C>T (missense)c.469C>T (missense)IVS3+1G>C (splice-site)c.547G>Ac.713G>A
ECG PR interval, ms132138120130Pacemaker
LVEF, %6177626060
Maximum thickness, mm22.32.22.12.8
LAVI, ml/m2603662.351.450.6
GLS, %–14.3–7–11.1–12.5
DD stage21222
Septal e′, cm/s7.66.52.35.24
DT, ms213201282241196

CVA = cerebrovascular accident; DD = diastolic dysfunction grade; DT = mitral valve inflow deceleration time; ECG = electrocardiogram; GLS = global longitudinal strain; ICD = implantable cardioverter-defibrillator; LAVI = left atrial volume index; LVEF = left ventricular ejection fraction.