Monogenic hypertension

Area of Science:

• Cardiology
• Genetics
• Endocrinology

Background:

• Hypertension represents a major global health challenge.
• Approximately 30% of hypertension cases stem from monogenic causes.
• Monogenic hypertension is characterized by increased sodium (Na+) transport, either mineralocorticoid-dependent or -independent.

Purpose of the Study:

• To outline the diagnostic approaches for monogenic hypertension.
• To highlight the role of genetic testing in identifying monogenic hypertension.
• To describe the inheritance patterns of monogenic hypertension.

Main Methods:

• Diagnosis relies on physical examination and blood pressure monitoring.
• Laboratory analyses include renin, aldosterone, cortisol, and potassium levels.
• Genetic testing aids in confirming the diagnosis and differentiating it from other forms of hypertension.

Main Results:

• Monogenic hypertension presents as the primary or sole manifestation in affected individuals.
• Distinct patterns of mineralocorticoid-dependent or -independent Na+ transport are observed.
• Autosomal dominant and autosomal recessive inheritance patterns are identified.

Conclusions:

• Monogenic hypertension is a distinct subtype of hypertension with identifiable genetic origins.
• A combination of clinical, laboratory, and genetic evaluations is crucial for diagnosis.
• Understanding the genetic basis and inheritance is vital for patient management and genetic counseling.