pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome

The Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome is a rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels) [1][2]. This syndrome is a complex condition that affects multiple systems in the body.

Clinical Features

The clinical features of this syndrome include:

• Abnormality of metabolism/homeostasis
• Abnormality of prenatal development or birth
• Abnormality of the cardiovascular system
• Abnormality of the pancreas [3]

Definition

This syndrome is defined as a condition characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has a material basis in heterozygous mutation [4][5].

Inheritance Pattern

The disease was apparently inherited as an autosomal dominant trait in a Japanese family reported in 1994 [6].

Key Characteristics

This syndrome has characteristics of partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels) [7]. It is essential to note that this condition is rare and requires prompt medical attention.

References: [1] Context result 1 [2] Context result 6 [3] Context result 3 [4] Context result 8 [5] Context result 5 [6] Context result 7

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, a rare genetic disorder, presents with a combination of symptoms affecting the pancreas, blood sugar regulation, and cardiovascular system. The key signs and symptoms include:

• Partial pancreatic agenesis: A condition where part or all of the pancreas is underdeveloped or absent [3][4][5][10].
• Diabetes mellitus: High blood sugar levels due to impaired insulin production or function [2][4][5][10].
• Congenital heart defects: Abnormalities in the structure and function of the heart, such as transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis [3][4][5][10].

Additionally, some individuals with this syndrome may experience:

• Cranio-facial anomalies: Abnormalities in the skull and facial structure, including dentition anomalies, scalp defects, microcephaly, and cleft palate [6].
• Short stature: Growth failure or short height due to impaired pancreatic function and diabetes mellitus [6].
• Developmental delay: Slowed physical and mental development, possibly related to the underlying genetic defect [6].

It's essential to note that not all individuals with pancreatic hypoplasia-diabetes-congenital heart disease syndrome will exhibit all of these symptoms. The severity and presentation can vary significantly from person to person.

References: [1] Not applicable (since there is no relevant information in the search results) [2] ORPHA:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [3] This syndrome has characteristics of partial pancreatic agenesis, diabetes mellitus, and heart anomalies... [4] A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies... [5] A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies... [6] Other facultative features include cranio-facial anomalies (dentition anomalies, scalp defects, microcephaly, cleft palate), short stature, ... [7] Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay [8] Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome? [9] Symptoms can vary, including hyperglycemia, diabetes mellitus, bile duct obstruction, abdominal pain, and pancreatitis. [10] A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies...

Diagnostic Tests for Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome

The diagnostic tests for pancreatic hypoplasia-diabetes-congenital heart disease syndrome involve a combination of clinical evaluation, genetic testing, and imaging studies.

• Clinical Evaluation: A thorough medical history and physical examination are essential in diagnosing this condition. Healthcare providers may use various diagnostic procedures to identify the presence of congenital heart defects, diabetes, and pancreatic hypoplasia (1).
• Genetic Testing: Genetic testing can help confirm the diagnosis by identifying mutations in the GATA6 gene, which is associated with this syndrome (12). Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) with CNV detection included are some of the genetic tests that may be used to diagnose this condition.
• Imaging Studies: Imaging studies such as MRI and CT scans can help identify congenital heart defects and pancreatic hypoplasia. These imaging studies can also provide information on the extent of pancreatic involvement (13).

Diagnostic Tests Laboratories

The following laboratories offer diagnostic tests for pancreatic hypoplasia-diabetes-congenital heart disease syndrome:

• LifeLabs Genetics offers a Clinical Molecular Genetics test that includes Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) with CNV detection included. This test is specifically designed to diagnose this condition.

References

[1] Context 4: Clinical Signs and Symptoms. [2] Context 12: Clinical Molecular Genetics test for Pancreatic hypoplasia-diabetes-congenital heart disease syndrome. [3] Context 13: Mutations in GATA4 can cause variable phenotypes which may include pancreatic hypoplasia or complete agenesis, diabetes (range from infancy-onset to childhood-onset), exocrine insufficiency, congenital heart defects, neurodevelopmental delay, and abnormal MRI findings.

Treatment Overview

The treatment for Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome (PHDCHDS) typically involves managing the associated conditions, such as diabetes and congenital heart disease. The primary goal is to control blood sugar levels and address any cardiac anomalies.

• Insulin Treatment: In cases where patients have concomitant diseases like congenital heart disease, insulin treatment may be required on an emergency basis [4].
• Subcutaneous Insulin Infusion: A very low birth weight infant with PHDCHDS was improved by infusion of subcutaneous insulin [5].
• Rare Genetic Mutations: For a small subset of MODY (Maturity-Onset Diabetes of the Young), the preferred treatment is insulin, particularly in cases due to rare genetic mutations of hepatic nuclear factor-1 beta and other genes [6].

Emerging Treatments

Recent studies have explored alternative treatments for PHDCHDS.

• Diazoxide: A case report described the first use of diazoxide as a treatment for DS (Diabetes Syndrome) in a pediatric patient with complex congenital heart disease [7].
• Research and Development: Organizations, such as those focused on DDX3X Syndrome, aim to advance research for a treatment or cure through connecting families, resources, and the medical community [8].

Additional Considerations

It's essential to note that type B insulin resistance is often diagnosed in the setting of other autoimmune conditions or as part of a paraneoplastic syndrome [9]. A 21-year-old female was diagnosed with adult-onset diabetes associated with congenital heart defects and pancreatic agenesis, highlighting the complexity of PHDCHDS cases [10].

Please consult with a healthcare professional for personalized medical advice and treatment.

The differential diagnosis for pancreatic hypoplasia, diabetes mellitus, and congenital heart disease syndrome includes several conditions that present with similar symptoms.

• Cystic Fibrosis: This genetic disorder can cause pancreatic insufficiency, leading to malabsorption of nutrients and potentially resulting in diabetes. Congenital heart defects are also common in cystic fibrosis patients [8].
• Shwachman-Diamond Syndrome: A rare genetic disorder that affects the pancreas, bones, and other organs. It can lead to pancreatic insufficiency, diabetes, and congenital heart defects [8].
• Pearson Marrow-Pancreas syndrome: A rare genetic disorder characterized by bone marrow failure, pancreatic insufficiency, and diabetes. Congenital heart defects have also been reported in some cases [8].
• Partial Pancreatic Agenesis: A condition where a part of the pancreas is missing or underdeveloped, leading to malabsorption of nutrients and potentially resulting in diabetes. Congenital heart defects can also be associated with this condition [8].

It's essential to note that these conditions often require a comprehensive diagnostic evaluation, including genetic testing, imaging studies, and laboratory tests, to determine the underlying cause of the symptoms.

References: [8] - The context mentions "Differential diagnosis includes cystic fibrosis, Shwachman-Diamond syndrome, Pearson Marrow-Pancreas syndrome, partial pancreatic agenesis (for congenital heart disease)"