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Cardiac malformations associated with the congenital nephrotic syndrome
1Department of Paediatrics, St Luke's Hospital, Guardamangia, Malta. victor.e.grech@magnet.mt
Insights
Congenital nephrotic syndrome (CNS) is linked to heart defects, including pulmonary and subaortic stenosis. Regular cardiac reviews are crucial for early diagnosis and intervention in CNS patients.
Area of Science:
- Pediatric Cardiology
- Nephrology
- Medical Genetics
Background:
- Congenital nephrotic syndrome (CNS) is a rare kidney disorder.
- Cardiac malformations associated with CNS are infrequently reported.
- Previous reports documented cardiac issues in only one family with CNS.
Observation:
- This study details four pediatric patients diagnosed with CNS.
- Three patients presented with pulmonary valve stenosis; one required intervention.
- One patient had discrete subaortic stenosis necessitating surgical resection.
Findings:
- The findings indicate a higher prevalence of cardiac malformations in CNS patients than previously recognized.
- Specific cardiac lesions identified include pulmonary valve stenosis and discrete subaortic stenosis.
- The study highlights the need for comprehensive cardiac evaluation in CNS cases.
Implications:
- Regular pediatric cardiac assessments are recommended for all CNS patients.
- Prompt referral to a cardiologist is advised, especially when flow murmurs are present.
- Early diagnosis and management of cardiac lesions are vital to prevent complications like bacterial endocarditis.
Abstract:
The association of cardiac malformation with the congenital nephrotic syndrome (CNS) has been previously reported in only one family. We report four patients with CNS: three with pulmonary valve stenosis (one requiring valvuloplasty) and one with discrete subaortic stenosis requiring surgical resection. We conclude that the cardiac status of all patients with CNS should be reviewed regularly by a paediatrician, with a low threshold for referral to a cardiologist, as flow murmurs due to chronic anaemia may obscure cardiac pathology. It is important to diagnose any associated cardiac lesions as these may require intervention, and may also predispose to the development of bacterial endocarditis if surgical or dental procedures are undertaken without appropriate antibiotic prophylaxis.