Table 1 Clinical information about the patients within the pedigree

ID	Genetics	Age of Dx.	Age at Death	Age at Last Eval.	Cause of Death	QT prolongation	Arrhythmia	Med.	Cardio-myopathy	NDDs	Other Clinical Phenotypes
II:2	NAA10 p.R4S	> 40 yrs	N/A	> 40 yrs	N/A	Yes, QTc 450-480 ms	No	Unknown	Normal echo	None	None known
II:5	NAA10 p.R4S	18 – 40 yrs	N/A	> 40 yrs	N/A	Unknown	Unknown	Beta Blocker	Unknown	Mild cognitive delay	Unknown
III:1	NAA10 p.R4S	18 – 40 yrs	N/A	18 – 40 yrs	N/A	Yes, QTc = 480 - 500 ms	Yes, intermittent VT, ICD implanted	Beta Blocker, SCB	Yes, RCM and LVNC	Yes, ASD and LDs	Proximity muscle weakness
III:6	KCNH2 p.R164H NAA10 p.R4S (inferred)	5 - 18 yrs	18 – 40 yrs	N/A	Sudden Cardiac Death	Yes, QTc 450-480 ms	Unknown	Beta Blocker	Normal echo	None	None
III:8	NAA10 p.R4S	5 - 18 yrs	5 - 18 yrs	N/A	Heart failure	Yes, QTc > 500 ms	Yes, VT/VF, multiple shocks from ICD	Beta Blocker, SCB	Yes, DCM, EF = < 30%	Yes, ASD and LDs	Proximity muscle weakness
III:9	Unknown	N/A	<5 yrs	N/A	Respiratory distress	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown
III:11	Unknown	N/A	<5 yrs	N/A	?myocarditis	Unknown	Unknown	Unknown	Unknown	Unknown	Unknown
IV:3	KCNH2 p.R164H	<5 yrs	N/A	5 - 18 yrs	N/A	No, QTc <450 ms	No	None	Normal echo	None	None
IV:4	KCNH2 p.R164H NAA10 p.R4S	<5 yrs	N/A	5 - 18 yrs	N/A	Yes, QTc > 500 ms	Yes, intermittent PVCs, ILR implanted	Beta Blocker	Normal echo	Yes, speech delays and LDs	Feeding difficulties

ASD Autism spectrum disorder, DCM Dilated cardiomyopathy, Dx Diagnosis, Echo Echocardiogram, EF Ejection fraction, Eval Evaluation, ICD Implantable cardioverter-defibrillator, ILR Implantable loop recorder, LDs Learning disabilities, LVNC Left ventricular non-compaction, Med Medications, N/A Not applicable, NDDs Neurodevelopmental disabilities, QTc Corrected QT interval, RCM Restrictive cardiomyopathy, VF Ventricular fibrillation, VT Ventricular tachycardia, SCB Class 1B sodium channel blocker.

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