Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
December 9, 2021Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)Open Access

Family form of dilated cardiomyopathy

View Full Paper
Ask AI
Bookmark
Share

Why the study?

Cardiomyopathy is classified into familial and non-familial forms, reflecting the need to investigate the genetic basis of the disease.

Design

Clinical case report

Authors

ДСД. И. СадыковаKazan State Medical UniversityТМТ. П. МакароваKazan State Medical UniversityДСД. Р. СабироваKazan State Medical University

Discussion

Loading...

Member takes

Implication

Hypothesis-generating for MYH7 p.IIe201Thr in familial cardiomyopathy; larger studies needed before clinical adoption.

Structured PICO

P
Population
A clinical case of a patient with a familial form of non-compact cardiomyopathy in combination with a dilated form of cardiomyopathy.
I
Intervention
Diagnostic workup including echocardiography, MRI, and genetic testing.
O
Outcome
Identification of the genetic mutation responsible for the cardiomyopathy.

This case report highlights the role of the MYH7 gene p.IIe201Thr mutation in the development of combined familial non-compact and dilated cardiomyopathy.

Cite This Study

Садыкова et al. (2021) studied this question.

synapsesocial.com/papers/69f7e204b3779c4692288dcehttps://doi.org/10.21508/1027-4065-2021-66-5-202-206
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy2011 · 326 citations
  2. 2The Epidemiology of Childhood Cardiomyopathy in Australia2003 · 789 citations
  3. 3The Incidence of Pediatric Cardiomyopathy in Two Regions of the United States2003 · 897 citations
  4. 4Sudden Death and Cardiovascular Collapse in Children With Restrictive Cardiomyopathy2000 · 204 citations
  5. 5The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy1992 · 704 citations