A novel type 1b pseudohypoparathyroidism gene mutation in an adult with dilated cardiomyopathy and massive pericardial effusion

Pseudohypoparathyroidism (PHP) is a medical condition that affects calcium-mediated myocardial membrane depolarization [1] and cardiac contractility. Hypocalcemic ventricular dysfunction secondary to parathyroid dysfunction is a rare event in adults [2] that responds promptly to restoration of normocalcemia.

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Publication Details

Journal
Journal of Clinical and Medical Images Case Reports
Published
2024-08-30
DOI
https://doi.org/10.55920/2771-019x/1729
Primary Topic
Genetic Syndromes and Imprinting
Type
article
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article

A novel type 1b pseudohypoparathyroidism gene mutation in an adult with dilated cardiomyopathy and massive pericardial effusion

Maria Luisa do Nascimento Felipe
Journal of Clinical and Medical Images Case Reports
Genetic Syndromes and Imprinting
article

A novel type 1b pseudohypoparathyroidism gene mutation in an adult with dilated cardiomyopathy and massive pericardial effusion

Maria Luisa do Nascimento Felipe
article en

Abstract

Pseudohypoparathyroidism (PHP) is a medical condition that affects calcium-mediated myocardial membrane depolarization [1] and cardiac contractility. Hypocalcemic ventricular dysfunction secondary to parathyroid dysfunction is a rare event in adults [2] that responds promptly to restoration of normocalcemia.

Journal of Clinical and Medical Images Case ReportsVol. 4(4)
Openalex Percentile: Top 72%
Genetic Syndromes and Imprinting
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A novel type 1b pseudohypoparathyroidism gene mutation in an adult with dilated cardiomyopathy and massive pericardial effusion — Maria Luisa do Nascimento Felipe · Journal of Clinical and Medical Images Case Reports (2024) | TGRS Research Map | TGRS