2003Heterozygote pathologic mutation in the transthyretin gene (p.Gly67Ala) confirmed.
2012Onset of variant transthyretin amyloidosis (ATTRv) neuropathy symptoms.
February 2012 to October 2018Tafamidis therapy for neuropathy.
2013–18Annually repeated transthoracic echocardiography depicting progressive septal
left ventricular (LV) hypertrophy and mild diastolic dysfunction.
2017–18Cardiovascular magnetic resonance (CMR) depicting non-ischaemic late gadolinium enhancement in the septum and basal LV myocardium suggestive of cardiac amyloidosis.
November 2018 to May 2019Inotersen therapy for neuropathy.
June 2019—PresentPatisiran therapy for neuropathy.
July 2019Occurrence of symptomatic, paroxysmal, tachycardic atrial fibrillation.
July 2019Repeated CMR (with vasodilalator–stress perfusion) showing no progression of cardiomyopathy and excluding myocardial ischaemia. No coronary stenosis on invasive angiography.
July 2019Implantation of a dual-chamber, MRI-conditional pacemaker (Medtronic Ensura DR MRI) due to a marked first-degree atrio-ventricular block (AV-block) (PQ interval up to 500 ms) with intermittent second-degree AV-block (2:1 conduction) under beta-blocker therapy.
September 2020 (Present)Index cardiac evaluation, including CMR showing a relatively accelerated and unexpected improvement of cardiomyopathy findings.
2003Heterozygote pathologic mutation in the transthyretin gene (p.Gly67Ala) confirmed.
2012Onset of variant transthyretin amyloidosis (ATTRv) neuropathy symptoms.
February 2012 to October 2018Tafamidis therapy for neuropathy.
2013–18Annually repeated transthoracic echocardiography depicting progressive septal
left ventricular (LV) hypertrophy and mild diastolic dysfunction.
2017–18Cardiovascular magnetic resonance (CMR) depicting non-ischaemic late gadolinium enhancement in the septum and basal LV myocardium suggestive of cardiac amyloidosis.
November 2018 to May 2019Inotersen therapy for neuropathy.
June 2019—PresentPatisiran therapy for neuropathy.
July 2019Occurrence of symptomatic, paroxysmal, tachycardic atrial fibrillation.
July 2019Repeated CMR (with vasodilalator–stress perfusion) showing no progression of cardiomyopathy and excluding myocardial ischaemia. No coronary stenosis on invasive angiography.
July 2019Implantation of a dual-chamber, MRI-conditional pacemaker (Medtronic Ensura DR MRI) due to a marked first-degree atrio-ventricular block (AV-block) (PQ interval up to 500 ms) with intermittent second-degree AV-block (2:1 conduction) under beta-blocker therapy.
September 2020 (Present)Index cardiac evaluation, including CMR showing a relatively accelerated and unexpected improvement of cardiomyopathy findings.
2003Heterozygote pathologic mutation in the transthyretin gene (p.Gly67Ala) confirmed.
2012Onset of variant transthyretin amyloidosis (ATTRv) neuropathy symptoms.
February 2012 to October 2018Tafamidis therapy for neuropathy.
2013–18Annually repeated transthoracic echocardiography depicting progressive septal
left ventricular (LV) hypertrophy and mild diastolic dysfunction.
2017–18Cardiovascular magnetic resonance (CMR) depicting non-ischaemic late gadolinium enhancement in the septum and basal LV myocardium suggestive of cardiac amyloidosis.
November 2018 to May 2019Inotersen therapy for neuropathy.
June 2019—PresentPatisiran therapy for neuropathy.
July 2019Occurrence of symptomatic, paroxysmal, tachycardic atrial fibrillation.
July 2019Repeated CMR (with vasodilalator–stress perfusion) showing no progression of cardiomyopathy and excluding myocardial ischaemia. No coronary stenosis on invasive angiography.
July 2019Implantation of a dual-chamber, MRI-conditional pacemaker (Medtronic Ensura DR MRI) due to a marked first-degree atrio-ventricular block (AV-block) (PQ interval up to 500 ms) with intermittent second-degree AV-block (2:1 conduction) under beta-blocker therapy.
September 2020 (Present)Index cardiac evaluation, including CMR showing a relatively accelerated and unexpected improvement of cardiomyopathy findings.
2003Heterozygote pathologic mutation in the transthyretin gene (p.Gly67Ala) confirmed.
2012Onset of variant transthyretin amyloidosis (ATTRv) neuropathy symptoms.
February 2012 to October 2018Tafamidis therapy for neuropathy.
2013–18Annually repeated transthoracic echocardiography depicting progressive septal
left ventricular (LV) hypertrophy and mild diastolic dysfunction.
2017–18Cardiovascular magnetic resonance (CMR) depicting non-ischaemic late gadolinium enhancement in the septum and basal LV myocardium suggestive of cardiac amyloidosis.
November 2018 to May 2019Inotersen therapy for neuropathy.
June 2019—PresentPatisiran therapy for neuropathy.
July 2019Occurrence of symptomatic, paroxysmal, tachycardic atrial fibrillation.
July 2019Repeated CMR (with vasodilalator–stress perfusion) showing no progression of cardiomyopathy and excluding myocardial ischaemia. No coronary stenosis on invasive angiography.
July 2019Implantation of a dual-chamber, MRI-conditional pacemaker (Medtronic Ensura DR MRI) due to a marked first-degree atrio-ventricular block (AV-block) (PQ interval up to 500 ms) with intermittent second-degree AV-block (2:1 conduction) under beta-blocker therapy.
September 2020 (Present)Index cardiac evaluation, including CMR showing a relatively accelerated and unexpected improvement of cardiomyopathy findings.
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