LAUSR

Introduction: Sudden cardiac death (SCD) in the young is often caused by hereditary cardiomyopathies and primary arrhythmia syndromes. Family screening in these situations can prevent further SCD events. We present a case of SCD in two young Amish brothers and the subsequent diagnosis of a heritable disease in their relatives. Description: A 27 year-old previously healthy man had an unwitnessed cardiac arrest, with VF as initial rhythm and sustained ROSC after 40 minutes. His echo showed severely dilated hypokinetic LV, EF 15% and normal size RV with mild hypokinesis. He developed anoxic brain injury and had withdrawal of life support. He was part of an Amish community and had 3 maternal cousins with SCD in their twenties. After his death his relatives were referred for cardiac evaluation. Two months later, his 37 year-old brother had a witnessed cardiac arrest with bystander CPR. His initial rhythm was VF and had sustained ROSC after 70 minutes. Four days before this, he had had an initial cardiac evaluation, with an ECG that showed NSR, incomplete RBBB and normal axis. After the cardiac arrest his echo showed severely dilated hypokinetic LV, EF 10% and normal size RV with severe hypokinesis. He had complete neurological recovery and had an AICD implanted. A comprehensive cardiomyopathy multi-gene panel showed a pathogenic heterozygous c.699G>A variant in the DSP gene. All his siblings, his mother and some maternal cousins were tested and 3 more cases of the same variant were identified. Two of them had dilated cardiomyopathy and had an AICD implanted. A CPR training session for the local Amish community was organized by our ICU staff. Discussion: In this report, a fatal SCD case led to the identification of 4 relatives at risk for SCD from a genetic variant in the DSP gene that is associated with ARVC/D and dilated cardiomyopathy. The Amish are genetically closed communities with high incidence of genetic disorders including this variant. Young patients with unexplained SCD should have genetic analysis (and a cardiac-specific autopsy if deceased) and their 1st-degree relatives should have a cardiac evaluation as this can yield the diagnosis of a heritable disease in up to 40% of families. Intensivists must be aware of these recommendations as they are often the primary physicians of SCD patients.