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Clinical approach to genetic cardiomyopathy in children
M L Schwartz1, G F Cox, A E Lin
1Department of Cardiology, Children's Hospital, Boston, Mass, MA 02115, USA.
Insights
A new approach aids in diagnosing genetic causes of pediatric cardiomyopathy (CM). This strategy helps identify the specific etiology, improving treatment and outcomes for affected children.
Area of Science:
- Pediatric Cardiology
- Genetics
- Diagnostic Medicine
Background:
- Pediatric cardiomyopathy (CM) is a major cause of death in children, often with unknown etiology.
- Etiology-specific treatments are crucial for reducing morbidity and mortality.
- Diagnosing genetic causes of pediatric CM is challenging due to numerous rare genes, varied presentations, and complex tests.
Purpose of the Study:
- To present a multidisciplinary diagnostic approach for identifying genetic causes of pediatric CM.
- To establish criteria for diagnosing CM based on cardiac structure and function.
- To offer a systematic strategy for evaluating children with suspected genetic CM.
Main Methods:
- Defined criteria for abnormal left ventricular performance and structure using echocardiography.
- Classified genetic conditions associated with CM (metabolic disorders, malformation syndromes, neuromuscular diseases, familial isolated CM).
- Developed a presentation-based diagnostic strategy (biochemical abnormalities, encephalopathy, dysmorphic features, neuromuscular disease, isolated CM, pathology).
Main Results:
- Provided a differential diagnosis of genetic conditions linked to pediatric CM.
- Outlined a diagnostic strategy tailored to clinical presentation.
- Recommended adjunctive treatments for suspected metabolic CM and a protocol for moribund patients.
Conclusions:
- The proposed approach assists specialists in evaluating pediatric CM for genetic causes.
- A presentation-based strategy can increase diagnostic yield for pediatric CM.
- Establishing a genetic diagnosis has significant implications for treatment, prognosis, and genetic counseling.
Background:
Cardiomyopathy (CM) remains one of the leading cardiac causes of death in children, although in the majority of cases, the cause is unknown. To have an impact on morbidity and mortality, attention must shift to etiology-specific treatments. The diagnostic evaluation of children with CM of genetic origin is complicated by the large number of rare genetic causes, the broad range of clinical presentations, and the array of specialized diagnostic tests and biochemical assays.
Methods And Results:
We present a multidisciplinary diagnostic approach to pediatric CM of genetic etiology. We specify criteria for abnormal left ventricular systolic performance and structure that suggest CM based on established normal echocardiographic measurements and list other indications to consider an evaluation for CM. We provide a differential diagnosis of genetic conditions associated with CM, classified as inborn errors of metabolism, malformation syndromes, neuromuscular diseases, and familial isolated CM disorders. A diagnostic strategy is offered that is based on the clinical presentation: biochemical abnormalities, encephalopathy, dysmorphic features or multiple malformations, neuromuscular disease, apparently isolated CM, and pathological specimen findings. Adjunctive treatment measures are recommended for severely ill patients in whom a metabolic cause of CM is suspected. A protocol is provided for the evaluation of moribund patients.
Conclusions:
In summary, we hope to assist pediatric cardiologists and other subspecialists in the evaluation of children with CM for a possible genetic cause using a presentation-based approach. This should increase the percentage of children with CM for whom a diagnosis can be established, with important implications for treatment, prognosis, and genetic counseling.