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Catastrophic presentation of an inherited disease: the devil is in the details
Session:
Casos Clínicos desafiantes 2
Speaker:
Mariana Silva Brandão
Congress:
CPC 2023
Topic:
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Theme:
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Subtheme:
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Session Type:
Speaker´s Corner
FP Number:
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Authors:
Mariana Brandão; João Gonçalves Almeida; Nuno Dias Ferreira; Marco Oliveira; Marisa Passos Silva; Ricardo Fontes-Carvalho
Abstract
<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">A 57-year-old female was brought to the emergency room for syncope at home. Past medical history included hypertension (under indapamide and bisoprolol), recurrent syncope and depression with suicidal ideation. She was hypotensive, bradycardic, with signs of hypoperfusion and altered mental status. Electrocardiogram (ECG) showed complete atrioventricular (AV) block with a broad complex escape rhythm at 20 bpm. Drug intoxication was suspected; intubation and mechanical ventilation were ensued. Potassium level was 2.4 mmol/L. During in-hospital transport for temporary pacemaker (PM) implantation, isoprenaline infusion was started due to transcutaneous PM’s loss of capture, but was immediately suspended due to monomorphic ventricular tachycardia (VT). The patient then suffered a refractory cardiac arrest due to complete AV block. Transvenous PM was implanted, and venoarterial extracorporeal circulation membrane oxygenation (VA-ECMO) was placed for cardiopulmonary resuscitation. Coronary disease was excluded. The patient improved, with AV conduction recovery; ECMO was explanted 3 days later. </span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">ECG showed sinus rhythm, left anterior fascicular block and right bundle branch block. Echocardiography showed left ventricular (LV) hypertrophy (septal wall 16mm) with prominent papillary muscles, inferior and inferolateral wall hypokinesia with mildly depressed LV function. Cardiac magnetic resonance showed intramural LGE in the thinned inferolateral wall. A dual-chamber defibrillator was implanted before discharge.</span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"> Genetic testing revealed two pathogenic variants in the GLA gene – c.644A>G (p.Asn215Ser), c.870G>C (p.Met290Ile) – a diagnosis of Fabry disease (FD) was made. Low plasma α-galactosidase A enzymatic activity (1nmol/h/ml; range 6-30) and high lysoGb3 levels (4nmol/L; range 0-1.5) were found. The 94-year-old father was found to carry the c.870G>C variant, and the 82-year-old mother the c.644A>G mutation; both are PM carriers.</span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">Careful investigation of systemic involvement revealed angiokeratoma, cataract, sensorial neuropathy and hypoacusis. She is under enzyme replacement therapy with agalsidase-ß and follow-up at the cardiomyopathy clinic.</span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">We report a catastrophic presentation of FD in a middle-aged woman carrying 2 GLA variants, whose parents were clinically unaffected. This rare case alerts to the importance of recognizing red flags for inherited diseases, even in the acute cardiac care setting, particularly in cases in which target therapy is available. </span></span></p>
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