Table 2

Demographics, history, investigations, cardiac testing and final diagnosis in 5 cases in which testing showed genetic variants in LQTS genes outside the prospective study period (‘selected’)

IDAgeAncestryCircumstances of deathSleeping arrangementSleep positionSIDS categoryPrevious medical historyCardiac tests during lifeFamily history of syncope or SIDSSocial historyNo. of family members investigatedPositive heart testsGenetic variantFinal cardiac diagnosis
11 yearAsianFound deceased in bedOwn bedFound proneSIDS IINil. Full term.NilNoNo adverse social factors3NoR1193Q in SCN5AUnlikely LQTS
2<1 monthPacificFound deceased in bedco-sleepingFound proneSIDS IINil. Full term.NilNoUnknown0I759F in SCN5AUncertain Possible LQT3
53 monthMaoriSeizures then unresponsive.Not statedNot statedn/aUnknownNilUnknownUnknown0R1047L in KCNH2 and R1193Q in SCN5AUncertain Possible LQT2
77 monthNZ EuropeanFound deceased in bedNot statedNot statedSIDS IBUnknownNoYes*Unknown9Equivocal QT prolongation.E146K in KCNQ1Possible
8<1 monthNZ EuropeanCardiac arrest while feeding.n/an/an/aNil. Full term.QTc prolonged postarrestNoNo adverse social factors5No-Normal ECGsF1522Y in SCN5A and H558R in SCN5APossible LQT
  • *Retrospective LQTS testing done after 2-year-old sibling found to be gene positive after sudden death.

  • LQTS, long QT syndrome; SIDS, sudden infant death syndrome.