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| Name | Class |
|---|---|
| San Raffaele University Hospital, Italy | OTHER |
| San Giuseppe Moscati Hospital | OTHER |
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Peripartum cardiomyopathy (PPCM) is a rare, severe and potentially life-threatening disorder of largely unknown etiology and pathophysiology, with unexplained geographical differences and heterogeneous presentation. Investigators hypothesize that a network-based multidisciplinary strategy integrating clinical and molecular phenotyping of PPCM patients might anticipate diagnosis, optimize treatments, and identify novel mechanisms to achieve the unmet goal of personalized medicine.
Specific aims of this study are: a) to create a multicenter pilot registry of PPCM in different areas in Italy to assess incidence and prevalence of this rare disease, associated comorbidities and risk factors. b) to deeply characterize identified PPCM patients through clinical, imaging, genetic, biochemical, and molecular phenotyping. c) to gain novel mechanistic information on PPCM by performing deep clinical and molecular phenotyping in available biobanks samples of patients with PPCM and healthy controls.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Peripartum cardiomyopathy | Diagnosis of Peripartum cardiomyopathy (PPCM) will be defined according to the ESC guidelines as: (i) the development of the disease in the last month of pregnancy or within 5 months of delivery; (i) absence of an identifiable cause of heart failure; (iii) absence of recognizable heart disease before the last month of pregnancy; (iv) left ventricle systolic dysfunction demonstrated by classical echocardiographic criteria. |
| |
| Healthy pregnant volunteers | Healthy pregnant women |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Molecular and genetic screening | Diagnostic Test | Molecular and genetic screening |
|
| Measure | Description | Time Frame |
|---|---|---|
| Death or hospitalization due to heart failure | Death or hospitalization due to heart failure during the follow-up period | 0-6 months |
| Development of significant cardiac arrhythmias | New onset sustained supraventricular or ventricular arrhythmias or conduction blocks during the follow-up period | 0-6 months |
| Measure | Description | Time Frame |
|---|---|---|
| Left ventricular dysfunction | Left ventricular % ejection fraction during the follow-up period | 0-6 months |
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Inclusion Criteria
Exclusion Criteria
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Diagnosis of PPCM will be defined according to the ESC guidelines as: (i) the development of the disease in the last month of pregnancy or within 5 months of delivery; (i) absence of an identifiable cause of heart failure; (iii) absence of recognizable heart disease before the last month of pregnancy; (iv) left ventricle systolic dysfunction demonstrated by classical echocardiographic criteria (Eur Heart J 2018;34: 3165; Eur Heart J 2021; 42: 3599). Like other rare diseases, correct diagnosis of PPCM is mostly based on exclusion criteria; however, the differential diagnosis between PPCM, pre-existing chronic heart failure, and other causes of acute heart failure in the peripartum scenario remains challenging.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Cinzia Perrino | Contact | +39 081 7462223 | perrino@unina.it |
| Name | Affiliation | Role |
|---|---|---|
| Cinzia Perrino, MD pHD | Federico II University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Federico II University Hospital | Recruiting | Naples | 80131 | Italy |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 40914510 | Derived | Ilardi F, Manzo R, Peretto G, Lanni F, Peano V, Loffredo FS, Masarone D, Gerardi D, di Maio S, Bardi L, Licciardi M, Montali N, Pezzullo E, Di Lorenzo E, Stabile E, Battaglia C, Calanducci M, Bifulco G, Anastasia L, Carusone F, Cascone A, Di Santo M, Cavoretto PI, D'Alconzo D, Palmentieri A, Carotenuto M, Di Spiezio Sardo A, Ioele D, Paolillo R, Polese P, Saccone G, Esposito G, Chieffo A, Perrino C. Clinical presentation and echocardiographic characteristics of women with peripartum cardiomyopathy: Insights from the Italian Multicentre Registry. Int J Cardiol. 2026 Jan 1;442:133866. doi: 10.1016/j.ijcard.2025.133866. Epub 2025 Sep 4. |
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| ID | Term |
|---|---|
| D000099088 | Peripartum Cardiomyopathy |
| ID | Term |
|---|---|
| D011249 | Pregnancy Complications, Cardiovascular |
| D011248 | Pregnancy Complications |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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Peripheral Blood Mononuclear Cells (PBMCs) and serum will be profiled by whole exome sequencing (PBMCs), and proteomics, metabolomics or transcriptomics assays serum.
| D009202 | Cardiomyopathies |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |