Dataset Information

Paucisymptomatic Tetralogy of Fallot diagnosed in a 56-year-old patient: a case report.

ABSTRACT:

Background

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. It is generally diagnosed and surgically repaired early in life, with good overall outcomes.

Case presentation

We report the case of a patient incidentally diagnosed with paucisymptomatic TOF at the age of 56 years old, during investigations for carbon monoxide poisoning. The patient had a history of thyroidectomy, arterial hypertension, and four uncomplicated vaginal deliveries.

Conclusions

This case shows us that some patients with TOF can reach older ages without surgical correction. Late surgical repair should be meticulously decided on a case basis.

SUBMITTER: Hakim K

PROVIDER: S-EPMC10219914 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature

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Publications

Paucisymptomatic Tetralogy of Fallot diagnosed in a 56-year-old patient: a case report.

Hakim Kaouthar K Benothman Rihab R Mekki Nouha N Msaad Hela H Ouarda Fatma F

The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology 20230526 1

<h4>Background</h4>Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. It is generally diagnosed and surgically repaired early in life, with good overall outcomes.<h4>Case presentation</h4>We report the case of a patient incidentally diagnosed with paucisymptomatic TOF at the age of 56 years old, during investigations for carbon monoxide poisoning. The patient had a history of thyroidectomy, arterial hypertension, and four uncomplicated vaginal deliveries.<h4>Conclusi ...[more]

PMID: 37233917

Similar Datasets

Project description:BackgroundAlagille syndrome is an autosomal dominant disorder usually caused by pathogenic variants of the JAG1 gene. In the past, cholestasis was a condition sine qua non for diagnosis of the syndrome. However, recent advancements in genetic testing have revealed that clinical presentations vary from lack of symptoms, to multiorgan involvement. Tetralogy of Fallot, the most frequent complex congenital heart defect in Alagille Syndrome, very rarely leads to renal failure requiring dialysis - there are only single reports of such cases in the literature, with none of them in Alagille Syndrome.Case presentationA 41-year-old woman suffering from cyanosis, dyspnea and plethora was admitted to the hospital. The patient suffered from chronic kidney disease and tetralogy of Fallot and had been treated palliatively with Blalock-Taussig shunts in the past; at admission, only minimal flow through the left shunt was preserved. These symptoms, together with impaired mental status and dysmorphic facial features, led to extensive clinical and genetic testing including whole exome sequencing. A previously unknown missense variant c.587G > A within the JAG1 gene was identified. As there were no signs of cholestasis, and subclinical liver involvement was only suggested by elevated alkaline phosphatase levels, the patient was diagnosed with incomplete Alagille Syndrome. End-stage renal disease required introduction of renal replacement therapy. Continuous ambulatory peritoneal dialysis was chosen and the patient's quality of life significantly increased. However, after refusal of further treatment, the patient died at the age of 45.ConclusionsTetralogy of Fallot should always urge clinicians to evaluate for Alagille Syndrome and offer patients early nephrological care. Although tetralogy of Fallot rarely leads to end-stage renal disease requiring dialysis, if treated palliatively and combined with renal dysplasia (typical of Alagille Syndrome), it can result in severe renal failure as in the presented case. There is no standard treatment for such cases, but based on our experience, peritoneal dialysis is worth consideration. Finally, clinical criteria for the diagnosis of Alagille Syndrome require revision. Previously, diagnosis was based on cholestasis - however, cardiovascular anomalies are found to be more prevalent. Furthermore, the criteria do not include renal impairment, which is also common.

Dataset Information

Paucisymptomatic Tetralogy of Fallot diagnosed in a 56-year-old patient: a case report.

Background

Case presentation

Conclusions

Publications

Paucisymptomatic Tetralogy of Fallot diagnosed in a 56-year-old patient: a case report.

Similar Datasets

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