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The apple doesn't fall far from the tree – a Portuguese family with persistent ST-segment depression
Session:
Casos Clínicos: Doença Valvular, Pericárdica, Pulmonar, Congénita e Miocardiopatias
Speaker:
Ana Isabel Pinho
Congress:
CPC 2024
Topic:
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme:
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Subtheme:
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Session Type:
Sessão de Casos Clínicos
FP Number:
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Authors:
Ana Isabel Pinho; Sandra Amorim; Cátia Oliveira; Luís Daniel Santos; Carla Sousa; Luís Adão; Rui André Rodrigues
Abstract
<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:"Times New Roman",serif">A previously healthy 31-year-old woman was referred to Cardiology due to abnormal electrocardiographic (ECG) and Holter findings, following the onset of short episodes of palpitations. She denied any other symptoms. Her physical examination was unremarkable.</span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:"Times New Roman",serif">Her ECG demonstrated sinus rhythm (SR) with ST-depression in leads II, III, aVF, V3-6 and ST-elevation in aVR; 24-hour Holter showed SR, premature ventricular contractions (PVCs) and episodes of accelerated idioventricular rhythm. </span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:"Times New Roman",serif">The differential diagnosis included causes of ST-depression and ventricular arrhythmias, such as coronary artery disease (CAD), cardiomyopathies, metabolic causes and primary arrhythmia syndromes.</span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:"Times New Roman",serif">An integrated sequential assessment was undertaken. Transthoracic echocardiogram (TTE) and blood tests, including brain natriuretic peptide and thyroid function, were within the normal range. Coronary angiography by CT excluded CAD, and cardiac magnetic resonance (CMR) excluded structural abnormalities and areas of fibrosis. Treadmill exercise test showed dynamic accentuation of the preexisting ST-depressions during exercise and frequent PVCs in the recovery stage; she was asymptomatic. </span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:"Times New Roman",serif">A detailed familial history revealed that her mother was admited to Cardiology at the age of 49, after going to the emergency department with palpitations. Her ECG showed SR, ST-depression in multiple leads with reciprocal changes in aVR and V1; troponin levels were elevated and TTE was unremarkable. Telemetry documented non-sustained ventricular tachycardia. Coronary angiogram revealed normal coronary arteries but she suffered air embolism during catheterization. CMR was normal except for an area of recent infarction related to this complication. She remained stable on bisoprolol, never complaining of chest pain, and was discharged from Cardiology until 2023, when she attended an appointment following her daughter's findings. Follow-up ECG shows less pronounced (but similar to her daughter’s) ST-segment deviations. Recent TTE shows no structural disease. </span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:"Times New Roman",serif">Genetic testing of our patient revealed a variant of unknown significance in the FLNC gene. Her mother is a carrier of the same variant. Mother and daughter are now on regular follow-up in Cardiology and remain asymptomatic on bisoprolol. Their ECG pattern remains stable over time.</span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:"Times New Roman",serif">Discussion: Recognition of specific ECG patterns, in addition to a detailed family history, remains the hallmark of inherited arrhythmia syndromes. Widespread ST depression is not uncommon in clinical practice and raises concern for myocardial ischemia; patients will typically undergo a routine work-up including biochemistry, TTE, and coronary imaging. Familial ST-depression syndrome may have been misdiagnosed in the past but unremarkable findings, in combination with persistence of this pattern, should prompt further investigation and screening of family members. </span></span></p>
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